Yiping Shen

Yiping Shen

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Yiping Shen

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The rise of the genetic counseling profession in China.

Am J Med Genet C Semin Med Genet 2019 Jun 12;181(2):170-176. Epub 2019 Mar 12.

Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai, China.

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http://dx.doi.org/10.1002/ajmg.c.31693DOI Listing
June 2019

Three additional de novo CTCF mutations in Chinese patients help to define an emerging neurodevelopmental disorder.

Am J Med Genet C Semin Med Genet 2019 Jun 20;181(2):218-225. Epub 2019 Mar 20.

Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital, Children's Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.c.31698
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http://dx.doi.org/10.1002/ajmg.c.31698DOI Listing
June 2019

Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome.

Orphanet J Rare Dis 2019 Jun 14;14(1):144. Epub 2019 Jun 14.

Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200000, People's Republic of China.

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http://dx.doi.org/10.1186/s13023-019-1111-8DOI Listing
June 2019

Novel Compound Heterozygous Variants in the Gene in a Genetically Male Patient with Female External Genitalia

J Clin Res Pediatr Endocrinol 2019 05 16;11(2):211-217. Epub 2018 Nov 16.

First Affiliated Hospital of Xinjiang Medical University, Department of Pediatrics, Xinjiang Uygur Autonomous Region, China

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http://cms.galenos.com.tr/Uploads/Article_19934/JCRPE-0-0-En
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http://dx.doi.org/10.4274/jcrpe.galenos.2018.2018.0197DOI Listing
May 2019

Two Chinese Xia-Gibbs syndrome patients with partial growth hormone deficiency.

Mol Genet Genomic Med 2019 04 6;7(4):e00596. Epub 2019 Feb 6.

Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital, Children's Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.

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http://dx.doi.org/10.1002/mgg3.596DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465669PMC
April 2019

CYP24A1 Variants in Two Chinese Patients with Idiopathic Infantile Hypercalcemia.

Fetal Pediatr Pathol 2019 Feb 11;38(1):44-56. Epub 2019 Jan 11.

a Shandong Provincial Hospital Affiliated to Shandong University , Jinan , China.

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http://dx.doi.org/10.1080/15513815.2018.1492052DOI Listing
February 2019

Evaluation of copy number variant detection from panel-based next-generation sequencing data.

Mol Genet Genomic Med 2019 01 22;7(1):e00513. Epub 2018 Nov 22.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.

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http://doi.wiley.com/10.1002/mgg3.513
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http://dx.doi.org/10.1002/mgg3.513DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6382442PMC
January 2019

[Points to consider for pre-testing genetic counseling in the United States].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Jan;36(1):54-58

Boston Children's Hospital, Harvard Medical School, Boston, MA O2115, USA. Email:

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2019.01.009DOI Listing
January 2019

Increased transactivation and impaired repression of β-catenin-mediated transcription associated with a novel SOX3 missense mutation in an X-linked hypopituitarism pedigree with modest growth failure.

Mol Cell Endocrinol 2018 12 17;478:133-140. Epub 2018 Aug 17.

Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03037207183024
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http://dx.doi.org/10.1016/j.mce.2018.08.006DOI Listing
December 2018

Targeted exome sequencing identified a novel mutation hotspot and a deletion in Chinese primary hypertrophic osteoarthropathy patients.

Clin Chim Acta 2018 Dec 4;487:264-269. Epub 2018 Oct 4.

Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao tong University School of Medicine, Shanghai 200127, PR China; Institute of Pediatric Translational Medicine, Shanghai Jiao tong University School of Medicine, Shanghai 200127, PR China. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00098981183053
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http://dx.doi.org/10.1016/j.cca.2018.10.005DOI Listing
December 2018

SOPH Syndrome with Growth Hormone Deficiency, Normal Bone Age, and Novel Compound Heterozygous Mutations in NBAS.

Fetal Pediatr Pathol 2018 Dec 28;37(6):404-410. Epub 2018 Dec 28.

a Department of Endocrinology, Shanghai Children's Medical Center , Shanghai Jiaotong University School of Medicine , Shanghai , China.

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http://dx.doi.org/10.1080/15513815.2018.1509406DOI Listing
December 2018

Trio-R: a script for assessing maternity and paternity in trio studies performed on Agilent chromosomal microarrays.

BMC Med Inform Decis Mak 2018 11 6;18(1):91. Epub 2018 Nov 6.

Department of Laboratory Medicine, Boston Children's Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1186/s12911-018-0684-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6220459PMC
November 2018

A de novo 921 Kb microdeletion at 11q13.1 including neurexin 2 in a boy with developmental delay, deficits in speech and language without autistic behaviors.

Eur J Med Genet 2018 Oct 11;61(10):607-611. Epub 2018 Apr 11.

Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China; Division of Genetics and Genomics, Boston Children's Hospital, Department of Neurology, Harvard Medical School, Boston, MA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.04.002DOI Listing
October 2018

Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients.

Orphanet J Rare Dis 2018 10 11;13(1):178. Epub 2018 Oct 11.

Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, China.

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0
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http://dx.doi.org/10.1186/s13023-018-0909-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6180513PMC
October 2018

Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience.

Genet Med 2018 09 2;20(9):1045-1053. Epub 2017 Nov 2.

Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

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http://dx.doi.org/10.1038/gim.2017.195DOI Listing
September 2018

Novel mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.

Mol Genet Metab Rep 2018 Sep 11;16:15-19. Epub 2018 Jun 11.

Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, People's Republic of China.

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http://dx.doi.org/10.1016/j.ymgmr.2018.05.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6031868PMC
September 2018

A rare exonic NRXN3 deletion segregating with neurodevelopmental and neuropsychiatric conditions in a three-generation Chinese family.

Am J Med Genet B Neuropsychiatr Genet 2018 Sep 4;177(6):589-595. Epub 2018 Aug 4.

Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People's Republic of China.

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http://dx.doi.org/10.1002/ajmg.b.32673DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6445570PMC
September 2018

The regulatory roles of VEGF-Notch signaling pathway on aplastic anemia with kidney deficiency and blood stasis.

J Cell Biochem 2018 Sep 19. Epub 2018 Sep 19.

Department of Hematology, First Hospital Affiliated to Zhejiang Chinese Medical University, Hangzhou, China.

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http://dx.doi.org/10.1002/jcb.27516DOI Listing
September 2018

Clinical and molecular genetic characterization of two patients with mutations in the phosphoglucomutase 1 (PGM1) gene.

J Pediatr Endocrinol Metab 2018 Jul;31(7):781-788

Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, P.R. China.

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http://www.degruyter.com/view/j/jpem.2018.31.issue-7/jpem-20
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http://dx.doi.org/10.1515/jpem-2017-0551DOI Listing
July 2018

Opposing Tumor-Promoting and -Suppressive Functions of Rictor/mTORC2 Signaling in Adult Glioma and Pediatric SHH Medulloblastoma.

Cell Rep 2018 Jul;24(2):463-478.e5

Cellular and Molecular Biology Graduate Program, University of Michigan Medical School, Ann Arbor, MI 48109, USA; Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, MI 48109, USA; Gilbert Family Neurofibromatosis Institute, Children's National Medical Center, Washington, DC 20010, USA; Center for Cancer and Immunology Research, Children's National Medical Center, Washington, DC 20010, USA; Center for Neuroscience Research, Children's National Medical Center, Washington, DC 20010, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2018.06.050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6116735PMC
July 2018

Novel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome.

Gene 2018 May 17;654:110-115. Epub 2018 Feb 17.

Department of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530002, PR China; Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530002, PR China; Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, PR China; Division of Genetics and Genomics, Boston Children's Hospital, Department of Neurology, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, United States. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2018.02.047DOI Listing
May 2018

[Genetic analysis of two children patients affected with CHARGE syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Apr;35(2):244-247

Department of Medical Genetics, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China.

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2018.02.022DOI Listing
April 2018

A rare unbalanced Y:autosome translocation in a Turner syndrome patient.

J Pediatr Endocrinol Metab 2018 Mar;31(3):349-353

Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, P.R. China.

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http://dx.doi.org/10.1515/jpem-2017-0244DOI Listing
March 2018

Three-generation family with novel contiguous gene deletion on chromosome 2p22 associated with thoracic aortic aneurysm syndrome.

Am J Med Genet A 2018 03 19;176(3):560-569. Epub 2018 Jan 19.

Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.38590DOI Listing
March 2018

Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia.

Mol Cytogenet 2018 3;11:13. Epub 2018 Feb 3.

7Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology Medical College of Georgia at Augusta University, Augusta, GA USA.

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http://dx.doi.org/10.1186/s13039-018-0359-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5797403PMC
February 2018

Novel compound heterozygous variants in the LHCGR gene identified in a subject with Leydig cell hypoplasia type 1.

J Pediatr Endocrinol Metab 2018 Jan;31(2):239-245

Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, P.R. China.

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http://dx.doi.org/10.1515/jpem-2016-0445DOI Listing
January 2018

Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature.

Am J Med Genet A 2017 Dec 25;173(12):3189-3194. Epub 2017 Sep 25.

Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.

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http://dx.doi.org/10.1002/ajmg.a.38473DOI Listing
December 2017

Prenatal and early diagnosis of Chinese 3-M syndrome patients with novel pathogenic variants.

Clin Chim Acta 2017 Nov 29;474:159-164. Epub 2017 Sep 29.

Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, PR China; Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, PR China; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2017.09.022DOI Listing
November 2017

The incidence of congenital hypothyroidism (CH) in Guangxi, China and the predictors of permanent and transient CH.

Endocr Connect 2017 Nov 26;6(8):926-934. Epub 2017 Oct 26.

Department of Genetic MetabolismChildren's Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People's Republic of China

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http://dx.doi.org/10.1530/EC-17-0289DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5704446PMC
November 2017

Mosaic UPD(7q)mat in a patient with silver Russell syndrome.

Mol Cytogenet 2017 17;10:36. Epub 2017 Oct 17.

Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Guangxi Birth Defects Prevention and Control Institute, No 59, Xiangzhu Road, Nanning, China.

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http://dx.doi.org/10.1186/s13039-017-0337-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5645907PMC
October 2017

Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data.

Mol Cytogenet 2017 23;10:30. Epub 2017 Aug 23.

Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, 200127 China.

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http://dx.doi.org/10.1186/s13039-017-0333-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5569469PMC
August 2017

Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families.

Fertil Steril 2017 07 7;108(1):145-151.e2. Epub 2017 Jun 7.

Section of Reproductive Endocrinology, Infertility, and Genetics, Department of Obstetrics and Gynecology, Medical College of Georgia, Augusta University, Augusta, Georgia; Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University, Augusta, Georgia; Department of Physiology, Medical College of Georgia, Augusta University, Augusta, Georgia. Electronic address:

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http://dx.doi.org/10.1016/j.fertnstert.2017.05.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5770980PMC
July 2017

CNVbase: Batch identification of novel and rare copy number variations based on multi-ethnic population data.

J Genet Genomics 2017 07 11;44(7):367-370. Epub 2017 Jul 11.

Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai 200438, China. Electronic address:

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http://dx.doi.org/10.1016/j.jgg.2017.07.001DOI Listing
July 2017

Novel pathogenic ACAN variants in non-syndromic short stature patients.

Clin Chim Acta 2017 Jun 7;469:126-129. Epub 2017 Apr 7.

Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, PR China; Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Nanning, Guangxi, PR China; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, United States; Department of Neurology, Harvard Medical School, Boston, MA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2017.04.004DOI Listing
June 2017

Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidism.

Clin Chim Acta 2017 May 16;468:76-80. Epub 2017 Feb 16.

Department of Genetic Metabolism, Children's Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, People's Republic of China; GuangXi Center for Birth Defects Research and Prevention, Nanning 530003, People's Republic of China. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2017.02.009DOI Listing
May 2017

Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency.

Int J Mol Sci 2017 Apr 18;18(4). Epub 2017 Apr 18.

Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China.

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http://dx.doi.org/10.3390/ijms18040857DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5412439PMC
April 2017

Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development.

J Child Neurol 2017 03 20;32(4):379-386. Epub 2016 Dec 20.

1 Institute of Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, PR China.

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http://dx.doi.org/10.1177/0883073816683083DOI Listing
March 2017

A Rare de novo Interstitial Duplication at 4p15.2 in a Boy with Severe Congenital Heart Defects, Limb Anomalies, Hypogonadism, and Global Developmental Delay.

Cytogenet Genome Res 2016 29;150(2):112-117. Epub 2016 Dec 29.

Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, China.

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http://dx.doi.org/10.1159/000454698DOI Listing
February 2017

[A boy with Meier-Gorlin syndrome carrying a novel ORC6 mutation and uniparental disomy of chromosome 16].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2017 Feb;34(1):68-72

Department of Endocrinology, Metabolism and Medical Genetics, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China.

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2017.01.016DOI Listing
February 2017

Further defining the critical genes for the 4q21 microdeletion disorder.

Am J Med Genet A 2017 Jan 8;173(1):120-125. Epub 2016 Sep 8.

Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, P.R. China.

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http://dx.doi.org/10.1002/ajmg.a.37965DOI Listing
January 2017

A rare occurrence of two large de novo duplications on 1q42-q44 and 9q21.12-q21.33.

Gene 2016 Dec 31;594(1):59-65. Epub 2016 Aug 31.

Laboratory of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; Guangxi Birth Defects Prevention and Control Institute, Nanning 530003, Guangxi, People's Republic of China; Department of Laboratory Medicine, Department of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, United States; Claritas Genomics, Cambridge, MA 02139, United States. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03781119163068
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http://dx.doi.org/10.1016/j.gene.2016.08.042DOI Listing
December 2016

Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients.

Clin Chim Acta 2016 Nov 13;462:127-132. Epub 2016 Sep 13.

Department of Genetic Metabolism, Children's Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, People's Republic of China; GuangXi Center for Birth Defects Research and Prevention, Nanning 530003, People's Republic of China. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2016.09.007DOI Listing
November 2016

The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability.

Mol Cytogenet 2016 29;9:74. Epub 2016 Sep 29.

Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics & Gynecology, Augusta University, Augusta, GA 30912 USA ; Department of Neuroscience and Regenerative Medicine, Augusta University, 1120 15th Street, Augusta, GA 30912 USA.

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http://dx.doi.org/10.1186/s13039-016-0286-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5041540PMC
September 2016

Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism.

Arch Endocrinol Metab 2016 Aug 16;60(4):323-7. Epub 2016 Feb 16.

Department of Genetic Metabolism, Children's Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People's Republic of China.

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http://dx.doi.org/10.1590/2359-3997000000108DOI Listing
August 2016

A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies.

BMC Neurol 2016 Aug 9;16:132. Epub 2016 Aug 9.

Department of Obstetrics & Gynecology, Section of Reproductive Endocrinology, Infertility & Genetics, Medical College of Georgia, Augusta University, 1120 15th Street, Augusta, GA, 30912, USA.

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http://dx.doi.org/10.1186/s12883-016-0642-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4979147PMC
August 2016

Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability.

Mol Cytogenet 2016 24;9(1):66. Epub 2016 Aug 24.

Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No.59, Xiangzhu Road, Nanning, China.

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http://dx.doi.org/10.1186/s13039-016-0274-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4995659PMC
August 2016

The complete mitochondrial genome sequence of Aspergillus flavus.

Mitochondrial DNA A DNA Mapp Seq Anal 2016 07 29;27(4):2671-2. Epub 2015 Apr 29.

a Department of Hematology , Zhejiang Traditional Chinese Medical Hospital , Hangzhou , Zhejiang , China.

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http://dx.doi.org/10.3109/19401736.2015.1022752DOI Listing
July 2016

Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients.

Clin Chim Acta 2016 Jul 21;458:30-4. Epub 2016 Apr 21.

Department of Genetic Metabolism, Children's Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, People's Republic of China; GuangXi Center for Birth Defects Research and Prevention, Nanning 530003, People's Republic of China. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2016.04.019DOI Listing
July 2016

A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features.

Mol Cytogenet 2016 31;9:41. Epub 2016 May 31.

Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No. 59, Xiangzhu Road, Nanning, China ; Department of Laboratory Medicine, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115 USA.

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http://dx.doi.org/10.1186/s13039-016-0251-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4886423PMC
June 2016

Causal variants screened by whole exome sequencing in a patient with maternal uniparental isodisomy of chromosome 10 and a complicated phenotype.

Exp Ther Med 2016 Jun 11;11(6):2247-2253. Epub 2016 Apr 11.

Institute of Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, P.R. China; Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, P.R. China.

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http://dx.doi.org/10.3892/etm.2016.3241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4887894PMC
June 2016

Diagnostic value of multiple café-au-lait macules for neurofibromatosis 1 in Chinese children.

J Dermatol 2016 May 13;43(5):537-42. Epub 2015 Oct 13.

Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.

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http://dx.doi.org/10.1111/1346-8138.13169DOI Listing
May 2016

X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: Identification and in vitro study of a novel small indel in the NR0B1 gene.

Mol Med Rep 2016 May 18;13(5):4039-45. Epub 2016 Mar 18.

Department of Laboratory Medicine, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200011, P.R. China.

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http://dx.doi.org/10.3892/mmr.2016.5006DOI Listing
May 2016

de novo interstitial deletions at the 11q23.3-q24.2 region.

Mol Cytogenet 2016 5;9:39. Epub 2016 May 5.

Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No59 Xiangzhu Road, Nanning, China ; Department of Laboratory Medicine, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115 USA.

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http://dx.doi.org/10.1186/s13039-016-0247-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4858824PMC
May 2016

Novel mutations in the CYP11B2 gene causing aldosterone synthase deficiency.

Mol Med Rep 2016 Apr 18;13(4):3127-32. Epub 2016 Feb 18.

Institute of Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, P.R. China.

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http://dx.doi.org/10.3892/mmr.2016.4906DOI Listing
April 2016

Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism.

Mol Cell Endocrinol 2016 Mar 8;423:60-6. Epub 2016 Jan 8.

Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Nanning, Guangxi, PR China; Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, PR China; Department of Laboratory Medicine, Department of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States; Claritas Genomics, Cambridge, MA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.mce.2016.01.007DOI Listing
March 2016

Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability.

Mol Cytogenet 2016 17;9:24. Epub 2016 Mar 17.

Department of Obstetrics & Gynecology, Augusta University, 1120 15th Street, Augusta, GA 30912 USA ; Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University, 1120 15th Street, Augusta, GA 30912 USA.

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http://dx.doi.org/10.1186/s13039-016-0234-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4797196PMC
March 2016

Novel and reported APC germline mutations in Chinese patients with familial adenomatous polyposis.

Gene 2016 Feb 25;577(2):187-92. Epub 2015 Nov 25.

State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410078, China. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2015.11.034DOI Listing
February 2016

Copy number variations in 119 Chinese children with idiopathic short stature identified by the custom genome-wide microarray.

Mol Cytogenet 2016 16;9:16. Epub 2016 Feb 16.

Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, 1665 Kongjiang Road, Shanghai, 200092 China.

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http://dx.doi.org/10.1186/s13039-016-0225-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4755006PMC
February 2016

Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population.

BMC Med Genomics 2016 Jan 8;9. Epub 2016 Jan 8.

School of Life Sciences, Obstetrics & Gynecology Hospital, Institute of Reproduction & Development, Fudan University, Shanghai, 200032, China.

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http://link.springer.com/content/pdf/10.1186%2Fs12920-015-01
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http://www.biomedcentral.com/1755-8794/9/2
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http://dx.doi.org/10.1186/s12920-015-0163-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4705616PMC
January 2016

A behavioral defect of temporal association memory in mice that partly lack dopamine reuptake transporter.

Sci Rep 2015 Dec 10;5:17461. Epub 2015 Dec 10.

Departments of Developmental and Behavioral Pediatrics, Medical Genetics, Shanghai Institute of Pediatric Translational Medicine, Shanghai Children's Medical Center, Ministry of Education-Shanghai Key Laboratory of Children's Environmental Health, Shanghai Jiao Tong University School of Medicine, Shanghai 200129.

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http://dx.doi.org/10.1038/srep17461DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4674704PMC
December 2015

Sequence Variant Interpretation 2.0: Perspective on New Guidelines for Sequence Variant Classification.

Clin Chem 2015 Nov 4;61(11):1317-9. Epub 2015 Jun 4.

Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Nanning, GuangXi, P.R. China; Shanghai Jiaotong University School of Medicine, Shanghai, P. R. China; Department of Laboratory Medicine, Department of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, MA; Claritas Genomics, Cambridge, MA.

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http://dx.doi.org/10.1373/clinchem.2015.240812DOI Listing
November 2015

[Effect of angular pyranocoumarin isolated from peucedanum praeruptorum on the proliferation and apoptosis of U266 cells].

Zhonghua Xue Ye Xue Za Zhi 2015 Nov;36(11):937-41

Department of Hematology, The First Affiliated Hospital of Zhejiang Chinese Medical University, Hangzhou 310006, China.

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http://dx.doi.org/10.3760/cma.j.issn.0253-2727.2015.10.010DOI Listing
November 2015

PAX8 pathogenic variants in Chinese patients with congenital hypothyroidism.

Clin Chim Acta 2015 Oct 8;450:322-6. Epub 2015 Sep 8.

Department of Genetic Metabolism, Children's Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, People's Republic of China; GuangXi Center for Birth Defects Research and Prevention, Nanning 530003, People's Republic of China. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2015.09.008DOI Listing
October 2015

De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.

BMC Genomics 2015 Sep 16;16:701. Epub 2015 Sep 16.

Medical Genetics Department, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, 1678 Dongfang Road, Shanghai, 200127, China.

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http://dx.doi.org/10.1186/s12864-015-1898-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4574214PMC
September 2015

Exome sequencing reveals a novel PTHLH mutation in a Chinese pedigree with brachydactyly type E and short stature.

Clin Chim Acta 2015 Jun 20;446:9-14. Epub 2015 Mar 20.

State Key laboratory of Medical Genomics, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2015.03.019DOI Listing
June 2015

Autistic children exhibit decreased levels of essential Fatty acids in red blood cells.

Int J Mol Sci 2015 May 4;16(5):10061-76. Epub 2015 May 4.

Laboratory of Lipid Medicine and Technology, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02129, USA.

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http://dx.doi.org/10.3390/ijms160510061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4463632PMC
May 2015

Whole exome sequencing to identify genetic causes of short stature.

Horm Res Paediatr 2014 20;82(1):44-52. Epub 2014 Jun 20.

Department of Genetics, Harvard Medical School, Boston, Mass., USA.

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http://dx.doi.org/10.1159/000360857DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4130218PMC
March 2015

LIN28 is involved in glioma carcinogenesis and predicts outcomes of glioblastoma multiforme patients.

PLoS One 2014 24;9(1):e86446. Epub 2014 Jan 24.

Department of Neurosurgery, Shanghai Institute of Neurosurgery, Changzheng Hospital, Second Military Medical University, Shanghai, China ; Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0086446PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3901701PMC
February 2015

Clinical and molecular evaluations of siblings with "pure" 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3).

Mol Cytogenet 2014 24;7(1):101. Epub 2014 Dec 24.

Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No59, Xiangzhu Road, Nanning, China ; Department of Laboratory Medicine, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115 USA ; Department of Pathology, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 USA.

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http://molecularcytogenetics.biomedcentral.com/articles/10.1
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http://dx.doi.org/10.1186/s13039-014-0101-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4314806PMC
February 2015

Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield.

BMC Genomics 2014 Dec 17;15:1127. Epub 2014 Dec 17.

Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China.

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http://dx.doi.org/10.1186/1471-2164-15-1127DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4378009PMC
December 2014

A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes.

J Clin Endocrinol Metab 2014 Oct 24;99(10):E2117-22. Epub 2014 Jul 24.

Department of Radiation Oncology (S.L.K.), Icahn School of Medicine at Mt Sinai, New York, New York 10029; Universidad San Francisco de Quito and Instituto de Endocrinología, Instituto de Endocrinologia Metabolismo y Reproducción (J.G.-A., C.G., M.G.-A.), 6337 CCI Quito, Ecuador; Department of Pediatrics (S.A., R.G.R., V.H.), Oregon Health and Science University, Portland, Oregon 97239; Department of Laboratory Medicine (J.G., Y.S.), Boston Children's Hospital, Boston, Massachusetts 02115; Shanghai Children's Medical Center (J.G., Y.S.), Shanghai Jiaotong University School of Medicine, Shanghai 200127, China; Department of Genetics (M.G.), Harvard Medical School, Boston, Massachusetts 02115; Program in Medical and Population Genetics (M.G., A.D.), Broad Institute, Cambridge, Massachusetts 02142; Departments of Pathology, Pediatrics and Genetics (C.O., H.O.), Albert Einstein College of Medicine of Yeshiva University, New York, New York 10461; Department of Pathology (Y.S.), Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts 02115; Universidad San Francisco (A.Z.), 12841 Quito, Ecuador; and Division of Endocrinology (A.D.), Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229.

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http://dx.doi.org/10.1210/jc.2014-1949DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184067PMC
October 2014

Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene.

Mol Cell Endocrinol 2014 Aug 4;393(1-2):1-7. Epub 2014 Jun 4.

Division of Reproductive Endocrinology and Infertility, Department of OB/GYN, University of Texas Southwestern Medical Center, Dallas, TX 75235, United States.

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http://dx.doi.org/10.1016/j.mce.2014.05.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4332518PMC
August 2014

Somatic mutations in cerebral cortical malformations.

N Engl J Med 2014 Aug;371(8):733-43

From the Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Howard Hughes Medical Institute (S.S.J., A.-T.N.L., A.M.D., B.J.B., X.Z., R.S.H., J.N.P., A.R., S.S., B.K.M., T.W.Y., C.A.W.), and the Departments of Laboratory Medicine (J.W., Y.S., B.L.W.) and Neurology (M.S., A.P.), Boston Children's Hospital, the Departments of Pediatrics (S.S.J., A.-T.N.L., A.M.D., B.J.B., X.Z., R.S.H., J.N.P., A.R., S.S., B.K.M., T.W.Y., C.A.W.), Neurology (S.S.J., A.-T.N.L., A.M.D., B.J.B., X.Z., R.S.H., J.N.P., A.R., S.S., B.K.M., T.W.Y., C.A.W., M.S., A.P.), and Pathology (Y.S., B.L.W.), Harvard Medical School, the Department of Neurology, Beth Israel Deaconess Medical Center (B.S.C.), and the Department of Neurology, Massachusetts General Hospital (T.W.Y.) - all in Boston; the Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore (S.S.J.); the Department of Genome Sciences, University of Washington, Seattle (M.K., M.B., D.A.N., J.S.); the Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai (J.W., Y.S.); the Division of Neurology, Department of Pediatrics, Hacettepe University School of Medicine, Sihhiye, Ankara, Turkey (M.T.); the Neurogenetics Unit, Montreal Neurological Hospital and Institute, Department of Neurology and Neurosurgery (D.A., E.A.) and Department of Human Genetics (E.A.), McGill University, Montreal; the Department of Neurology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels (B.D.); the Pediatric Neurology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Florence, Italy (E.P., R.G.); the Department of Medicine, University of Melbourne, Austin Health, Heidelberg (I.E.S., S.F.B.), Department of Paediatrics, Royal Children's Hospital, University of Melbourne, and the Florey Institute of Neuroscience and Mental Health, Melbourne (I.E.S.), and the Department of Neurology, Royal Children's Hospital, Murdoch Children'

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http://dx.doi.org/10.1056/NEJMoa1314432DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4274952PMC
August 2014

Spectrum of genes involved in a unique case of Potocki Schaffer syndrome with a large chromosome 11 deletion.

Clin Neuropathol 2014 May-Jun;33(3):238-44

Institute of Pathology, Neuropathology Section, Jena University Hospital, Friedrich-Schiller-University, Jena, Institute of Neuropathology, Saarland University, School of Medicine, Homburg/S., Germany, Genetic Diagnostic Laboratory, Department of Laboratory Medicine, Children's Hospital Boston, Waltham, MA, Department of Obstetrics and Gynecology, Institute of Molecular Medicine and Genetics, Georgia Regents University, Augusta, GA, and Departments of Obstetrics, Gynecology, and Reproductive Biology and of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4199189PMC
July 2014

Novel frame-shift mutations of GLI3 gene in non-syndromic postaxial polydactyly patients.

Clin Chim Acta 2014 Jun 22;433:195-9. Epub 2014 Mar 22.

Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, PR China; Department of Laboratory Medicine, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00098981140012
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http://dx.doi.org/10.1016/j.cca.2014.03.012DOI Listing
June 2014

When a "disease-causing mutation" is not a pathogenic variant.

Clin Chem 2014 May 20;60(5):711-3. Epub 2013 Dec 20.

Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, P. R. China;

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http://dx.doi.org/10.1373/clinchem.2013.215947DOI Listing
May 2014

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

Hum Mol Genet 2014 May 30;23(10):2752-68. Epub 2013 Dec 30.

The Centre for Applied Genomics.

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http://dx.doi.org/10.1093/hmg/ddt669DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990173PMC
May 2014

Characterization of six missense mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in Chinese children with hypophosphatasia.

Cell Physiol Biochem 2013 10;32(3):635-44. Epub 2013 Sep 10.

Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.

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http://dx.doi.org/10.1159/000354467DOI Listing
April 2014

Matrine cooperates with all-trans retinoic acid on differentiation induction of all-trans retinoic acid-resistant acute promyelocytic leukemia cells (NB4-LR1): possible mechanisms.

Planta Med 2014 Mar 11;80(5):399-408. Epub 2014 Mar 11.

Department of Hematology, Zhejiang Provincial Hospital of Traditional Chinese Medicine, Hangzhou, China.

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http://dx.doi.org/10.1055/s-0034-1368183DOI Listing
March 2014

Screening for coding variants in FTO and SH2B1 genes in Chinese patients with obesity.

PLoS One 2013 25;8(6):e67039. Epub 2013 Jun 25.

Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, PR China.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0067039PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3692548PMC
February 2014

A novel deletion of IGF1 in a patient with idiopathic short stature provides insight Into IGF1 haploinsufficiency.

J Clin Endocrinol Metab 2014 Jan 20;99(1):E153-9. Epub 2013 Dec 20.

Division of Endocrinology (L.B., J.E.M., J.N.H., A.D.), Boston Children's Hospital, Boston, Massachusetts 02115; Shanghai Children's Medical Center (Y.Y.), Shanghai Jiaotong University School of Medicine, Shanghai 200127, China; Pediatrics Institute (B.W.), Key Laboratory of Neonatal Diseases, Ministry of Health, Children's Hospital of Fudan University, Shanghai 201102, PR China; Program in Medical and Population Genetics (J.N.H.), Broad Institute, Cambridge, Massachusetts 02142; Department of Genetics (J.N.H.), Harvard Medical School, Boston, Massachusetts 02115; Department of Pathology (Y.S.), Harvard Medical School, and Department of Laboratory Medicine, Boston Children's Hospital, Boston, Massachusetts 02115; and Shanghai Children's Medical Center (Y.S.), Shanghai Jiaotong University School of Medicine, Shanghai 200127, China.

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http://dx.doi.org/10.1210/jc.2013-3106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3879666PMC
January 2014

SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay.

Am J Med Genet B Neuropsychiatr Genet 2013 Dec 6;162B(8):832-40. Epub 2013 Sep 6.

Institutes of Biomedical Sciences, Children's Hospital and MOE Key Laboratory of Contemporary Anthropology, Fudan University, Shanghai, China; Department of Laboratory Medicine, Boston Children's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.b.32187DOI Listing
December 2013

Mowat-Wilson syndrome: the first report of an association with central nervous system tumors.

Childs Nerv Syst 2013 Dec 3;29(12):2151-5. Epub 2013 Oct 3.

Division of Pediatric Oncology, Department of Pediatrics; Faculty of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil,

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http://dx.doi.org/10.1007/s00381-013-2283-5DOI Listing
December 2013

Delayed puberty and estrogen resistance in a woman with estrogen receptor α variant.

N Engl J Med 2013 Jul;369(2):164-71

Section of Reproductive Endocrinology, Infertility, and Genetics, Department of Obstetrics and Gynecology, Institute of Molecular Medicine and Genetics, and the Neuroscience Program, Medical College of Georgia, Georgia Regents University, Augusta, GA 30912, USA.

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http://dx.doi.org/10.1056/NEJMoa1303611DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3823379PMC
July 2013