Yiping Shen

Yiping Shen

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Yiping Shen

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Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation‑dependent probe amplification in an infant with congenital generalized lipodystrophy.

Mol Med Rep 2020 Jun 23;21(6):2296-2302. Epub 2020 Mar 23.

Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Nanning, Guangxi 530023, P.R. China.

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http://dx.doi.org/10.3892/mmr.2020.11036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7185175PMC
June 2020

Ultrahigh-Frequency Surface Acoustic Wave Sensors with Giant Mass-Loading Effects on Electrodes.

ACS Sens 2020 Jun 19;5(6):1657-1664. Epub 2020 May 19.

National Engineering Research Centre for High Efficiency Grinding, College of Mechanical and Vehicle Engineering, Hunan University, Changsha 410082, P.R. China.

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http://dx.doi.org/10.1021/acssensors.0c00259DOI Listing
June 2020

Preparation of high drug-loading celastrol nanosuspensions and their anti-breast cancer activities in vitro and in vivo.

Sci Rep 2020 Jun 1;10(1):8851. Epub 2020 Jun 1.

Institute of Medicinal Plant Development, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, 100193, China.

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http://dx.doi.org/10.1038/s41598-020-65773-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7264310PMC
June 2020

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Front Genet 2020 18;11:592. Epub 2020 Jun 18.

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

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http://dx.doi.org/10.3389/fgene.2020.00592DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7314916PMC
June 2020

Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene-disease relationship.

Mol Genet Genomic Med 2020 May 11;8(5):e1212. Epub 2020 Mar 11.

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/mgg3.1212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216800PMC
May 2020

A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5.

BMC Med Genet 2020 05 11;21(1):100. Epub 2020 May 11.

Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital, Children's Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530002, China.

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http://dx.doi.org/10.1186/s12881-020-01039-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216669PMC
May 2020

The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series.

Am J Med Genet A 2020 04 28;182(4):640-651. Epub 2019 Dec 28.

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

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http://dx.doi.org/10.1002/ajmg.a.61467DOI Listing
April 2020

Cardio-facio-cutaneous syndrome-associated pathogenic MAP2K1 variants activate autophagy.

Gene 2020 Apr 20;733:144369. Epub 2020 Jan 20.

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.gene.2020.144369DOI Listing
April 2020

De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth.

Hum Genet 2020 Apr 24;139(4):499-512. Epub 2020 Jan 24.

Maternal and Child Health Hospital, Children's Hospital and Birth Defect Prevention Research Institute of Guangxi Zhuang Autonomous Region, 59 Xiangzhu Avenue, Nanning, 530002, Guangxi, China.

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http://dx.doi.org/10.1007/s00439-020-02115-9DOI Listing
April 2020

Influence of Hydrophobic Chains in Nanocarriers on Antitumor Efficacy of Docetaxel Nanoparticles.

Mol Pharm 2020 Apr 3;17(4):1205-1214. Epub 2020 Mar 3.

Institute of Medicinal Plant Development, Chinese Academy of Medical Sciences & Peking Union Medical College, No. 151, Malianwa North Road, Haidian District, Beijing 100193, China.

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http://dx.doi.org/10.1021/acs.molpharmaceut.9b01228DOI Listing
April 2020

Applications of cerebrospinal fluid circulating tumor DNA in the diagnosis of gliomas.

Jpn J Clin Oncol 2020 Mar;50(3):325-332

Department of Neurosurgery, Chinese PLA General Hospital, Beijing, China.

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http://dx.doi.org/10.1093/jjco/hyz156DOI Listing
March 2020

[Clinical practice guidelines for Prader-Willi syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Mar;37(3):318-323

Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530000, China.

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.03.016DOI Listing
March 2020

[Clinical practice guidelines for Noonan syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Mar;37(3):324-328

Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530000, China.

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.03.017DOI Listing
March 2020

[A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (3) - Data analysis].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Mar;37(3):345-351

Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530000, China.

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.03.021DOI Listing
March 2020

[A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (4) - Report interpretation and genetic counseling].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Mar;37(3):352-357

The First Affiliated Hospital, SRRS Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China; Zhejiang DIAN Diagnostics Co., Ltd., Hangzhou, Zhejiang 310013, China; University of Rochester Medical Center, New York, NY 14642, USA.

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.03.022DOI Listing
March 2020

A novel variant of IHH in a Chinese family with brachydactyly type 1.

BMC Med Genet 2020 03 24;21(1):60. Epub 2020 Mar 24.

Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital, Children's Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530002, China.

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http://dx.doi.org/10.1186/s12881-020-01000-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7092535PMC
March 2020

Influence of the PZT Sensor Array Configuration on Lamb Wave Tomography Imaging with the RAPID Algorithm for Hole and Crack Detection.

Sensors (Basel) 2020 Feb 6;20(3). Epub 2020 Feb 6.

Hunan Provincial Key Laboratory of Health Maintenance for Mechanical Equipment, Hunan University of Science and Technology, Xiangtan 411201, China.

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http://dx.doi.org/10.3390/s20030860DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7038675PMC
February 2020

The first two Chinese Myhre syndrome patients with the recurrent SMAD4 pathogenic variants: Functional consequences and clinical diversity.

Clin Chim Acta 2020 Jan 22;500:128-134. Epub 2019 Oct 22.

Department of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, Guangxi, China; Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, United States; 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.cca.2019.10.006DOI Listing
January 2020

Biallelic ERBB3 loss-of-function variants are associated with a novel multisystem syndrome without congenital contracture.

Orphanet J Rare Dis 2019 11 21;14(1):265. Epub 2019 Nov 21.

Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, 1678 Dongfang Road, Shanghai, 200127, People's Republic of China.

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http://dx.doi.org/10.1186/s13023-019-1241-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6868814PMC
November 2019

Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 Children.

Genes (Basel) 2019 10 26;10(11). Epub 2019 Oct 26.

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

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http://dx.doi.org/10.3390/genes10110847DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6896037PMC
October 2019

New insights from unbiased panel and whole-exome sequencing in a large Chinese cohort with disorders of sex development.

Eur J Endocrinol 2019 Sep;181(3):311-323

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/10.1530/EJE-19-0111DOI Listing
September 2019

The rise of the genetic counseling profession in China.

Am J Med Genet C Semin Med Genet 2019 06 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6593421PMC
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 06 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 06 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6570847PMC
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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6571543PMC
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 09 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 07;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

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
Publisher Site
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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7342426PMC
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

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