Yongguo Yu

Yongguo Yu

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Publications by authors named "Yongguo Yu"

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A Novel Nonsense Mutation of in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome

J Clin Res Pediatr Endocrinol 2019 11 11;11(4):419-425. Epub 2019 Jan 11.

Shanghai Jiao Tong University School of Medicine, Xinhua Hospital, Shanghai Institute for Pediatric Research, Department of Pediatric Endocrinology and Genetics, Shanghai, China

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http://dx.doi.org/10.4274/jcrpe.galenos.2019.2018.0220DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878345PMC
November 2019

Examining the blood amino acid status in pretherapeutic patients with  hyperphenylalaninemia.

J Clin Lab Anal 2019 Nov 24:e23106. Epub 2019 Nov 24.

Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.

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http://dx.doi.org/10.1002/jcla.23106DOI Listing
November 2019

Identification of variants associated with cleidocranial dysplasia.

Hereditas 2019 16;156:31. Epub 2019 Sep 16.

1Department of Pediatric Endocrinology and Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, 200092 China.

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http://dx.doi.org/10.1186/s41065-019-0107-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6747736PMC
September 2019

Identification of 8 novel gene variants in primary hyperoxaluria in 21 Chinese children with urinary stones.

World J Urol 2019 Aug 28;37(8):1713-1721. Epub 2018 Nov 28.

Department of Pediatric Urology, Xin Hua Hospital Affiliated To Shanghai Jiao Tong University School of Medicine, 1665 Kongjiang Road, Shanghai, 200092, China.

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http://dx.doi.org/10.1007/s00345-018-2563-5DOI Listing
August 2019

In vitro residual activities in 20 variants of phenylalanine hydroxylase and genotype-phenotype correlation in phenylketonuria patients.

Gene 2019 Jul 15;707:239-245. Epub 2019 May 15.

Department of Pediatric Endocrinology/Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Shanghai 200092, China. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2019.05.029DOI Listing
July 2019

The Association Between rs7574865 Polymorphism and the Susceptibility of Autoimmune Thyroid Disease: A Meta-Analysis.

Front Genet 2018 7;9:708. Epub 2019 Jan 7.

Department of Pediatric Endocrinology and Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

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http://dx.doi.org/10.3389/fgene.2018.00708DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330290PMC
January 2019

Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum Disorder.

Front Genet 2018 18;9:665. Epub 2018 Dec 18.

Shanghai Institute for Pediatric Research, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.

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https://www.frontiersin.org/article/10.3389/fgene.2018.00665
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http://dx.doi.org/10.3389/fgene.2018.00665DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305546PMC
December 2018

Genetic Diagnostic Evaluation of Trio-Based Whole Exome Sequencing Among Children With Diagnosed or Suspected Autism Spectrum Disorder.

Front Genet 2018 30;9:594. Epub 2018 Nov 30.

Developmental and Behavioral Pediatric Department - Child Primary Care Department, Brain and Behavioral Research Unit of Shanghai Institute for Pediatric Research and MOE Shanghai Key Laboratory for Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

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https://www.frontiersin.org/article/10.3389/fgene.2018.00594
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http://dx.doi.org/10.3389/fgene.2018.00594DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6284054PMC
November 2018

Clinical remission of myopathy with MYH2 deficiency after precision medicine-developed rehabilitation: a case report.

Am J Transl Res 2018 15;10(11):3827-3832. Epub 2018 Nov 15.

Department of Rehabilitation Medicine, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University Shanghai 200092, China.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6291703PMC
November 2018

De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.

Am J Hum Genet 2018 09 16;103(3):448-455. Epub 2018 Aug 16.

Department of Pediatric Endocrinology/Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Shanghai 200092, China. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.07.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128244PMC
September 2018

Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study.

Cell Physiol Biochem 2018 23;49(1):295-305. Epub 2018 Aug 23.

Department of Pediatric Endocrinology/Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

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http://dx.doi.org/10.1159/000492879DOI Listing
September 2018

JAG1 loss‑of‑function mutations contributed to Alagille syndrome in two Chinese families.

Mol Med Rep 2018 Aug 25;18(2):2356-2364. Epub 2018 Jun 25.

Department of Pediatric Cardiology, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200092, P.R. China.

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http://dx.doi.org/10.3892/mmr.2018.9217DOI Listing
August 2018

Next-generation sequencing as a second-tier diagnostic test for newborn screening.

J Pediatr Endocrinol Metab 2018 Aug;31(8):927-931

Department of Pediatric Endocrinology/Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, 200092 Shanghai, P.R.China.

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http://dx.doi.org/10.1515/jpem-2018-0088DOI Listing
August 2018

Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population.

Clin Chim Acta 2018 Jun 28;481:132-138. Epub 2018 Feb 28.

Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, China. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00098981183010
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http://dx.doi.org/10.1016/j.cca.2018.02.035DOI Listing
June 2018

A novel dNTP-limited PCR and HRM assay to detect Williams-Beuren syndrome.

Clin Chim Acta 2018 Jun 14;481:171-176. Epub 2018 Mar 14.

Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, PR China. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2018.03.011DOI Listing
June 2018

[Clinical phenotypes and genetic study of 2 cases with 22q13 deletion syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Jun;35(3):361-365

Department of Pediatric Endocrinology and Genetics, Shanghai Institute of Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China.

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2018.03.012DOI Listing
June 2018

Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions.

BMC Med Genomics 2018 05 24;11(1):49. Epub 2018 May 24.

Department of Pediatric Endocrinology/Genetics, Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, 1665 Kongjiang Road, Shanghai, 200092, China.

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http://dx.doi.org/10.1186/s12920-018-0368-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5968608PMC
May 2018

Evaluation of basal sex hormone levels for activation of the hypothalamic-pituitary-gonadal axis.

J Pediatr Endocrinol Metab 2018 Mar;31(3):323-329

Department of Clinical Epidemiology and Biostatistics, Institute of Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, 1678 Dongfang Road, Shanghai 200127, P.R. China.

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http://dx.doi.org/10.1515/jpem-2017-0124DOI Listing
March 2018

Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.

BMC Med Genomics 2017 10 30;10(1):62. Epub 2017 Oct 30.

Department of Pediatric Endocrinology/Genetics, Xin Hua Hospital affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, 1665 Kongjiang Road, Shanghai, 200092, China.

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http://dx.doi.org/10.1186/s12920-017-0298-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5663114PMC
October 2017

Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia.

J Hum Genet 2017 Jun 2;62(6):647-651. Epub 2017 Feb 2.

Department of Pediatric Endocrinology/Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Shanghai, China.

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http://dx.doi.org/10.1038/jhg.2017.10DOI Listing
June 2017

Molecular defects identified by whole exome sequencing in a child with atypical mucopolysaccharidosis IIIB.

J Pediatr Endocrinol Metab 2017 Apr;30(4):463-469

Department of Pediatric Endocrinology/Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Shanghai, 200092, P.R.

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http://dx.doi.org/10.1515/jpem-2016-0333DOI Listing
April 2017

Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development.

Sci Rep 2017 03 15;7:44536. Epub 2017 Mar 15.

Department of Pediatric Endocrinology/Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Shanghai, 200092, China.

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http://dx.doi.org/10.1038/srep44536DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5353765PMC
March 2017

Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.

Am J Med Genet A 2017 Feb 19;173(2):510-514. Epub 2016 Oct 19.

Department of Pediatric Endocrinology/Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Shanghai, China.

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http://dx.doi.org/10.1002/ajmg.a.38025DOI Listing
February 2017

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

21-hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype-phenotype correlation and identification of nine novel mutations.

Steroids 2016 Apr 21;108:47-55. Epub 2016 Jan 21.

Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Shanghai 200092, China. Electronic address:

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http://dx.doi.org/10.1016/j.steroids.2016.01.007DOI Listing
April 2016

Identification of five novel STAR variants in ten Chinese patients with congenital lipoid adrenal hyperplasia.

Steroids 2016 Apr 28;108:85-91. Epub 2016 Jan 28.

Department of Pediatric Endocrinology/Genetics, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai Institute for Pediatric Research, Shanghai 200092, China. Electronic address:

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http://dx.doi.org/10.1016/j.steroids.2016.01.016DOI Listing
April 2016

Exonic deletions of AUTS2 in Chinese patients with developmental delay and intellectual disability.

Am J Med Genet A 2016 Feb 6;170A(2):515-522. Epub 2015 Nov 6.

Department of Pediatric Endocrinology/Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Shanghai, China.

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http://dx.doi.org/10.1002/ajmg.a.37454DOI 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

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

[Molecular and prenatal diagnosis of a family with Fanconi anemia by next generation sequencing].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2015 Apr;32(2):204-7

Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai Institute of Pediatric Research, Shanghai 200092, P.R. China.

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http://doi.med.wanfangdata.com.cn/10.3760/cma.j.issn.1003-94
Publisher Site
http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2015.02.011DOI Listing
April 2015

First synthesis and characterization for the stereoisomers of Ulipristal acetate.

Steroids 2015 Mar 30;95:7-16. Epub 2014 Dec 30.

Key Laboratory of Drug Targeting and Drug Delivery Systems, West China School of Pharmacy, Sichuan University, Chengdu, Sichuan 610041, PR China. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0039128X140030
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http://dx.doi.org/10.1016/j.steroids.2014.12.009DOI Listing
March 2015

A novel CHD7 mutation in a Chinese patient with CHARGE syndrome.

Meta Gene 2014 Dec 5;2:469-78. Epub 2014 Jul 5.

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

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http://dx.doi.org/10.1016/j.mgene.2014.06.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287889PMC
December 2014

Maternal obesity caused by overnutrition exposure leads to reversal learning deficits and striatal disturbance in rats.

PLoS One 2013 4;8(11):e78876. Epub 2013 Nov 4.

West China Second Hospital, Sichuan University, Chengdu, Sichuan, China ; Department of Developmental and Behavioral Pediatrics, Shanghai Institute of Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China ; Chengdu Women's and Children's Central Hospital, Chengdu, Sichuan, China.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0078876PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3817091PMC
August 2014

A new and efficient method for the synthesis of Ulipristal acetate.

Steroids 2014 Jun 29;84:78-83. Epub 2014 Mar 29.

Key Laboratory of Drug-Targeting of Education Ministry and Department of Medicinal Chemistry, West China School of Pharmacy, Sichuan University, Chengdu 610041, PR China. Electronic address:

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http://dx.doi.org/10.1016/j.steroids.2014.03.009DOI Listing
June 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

Identification of TCIRG1 and CLCN7 gene mutations in a patient with autosomal recessive osteopetrosis.

Mol Med Rep 2014 Apr 17;9(4):1191-6. Epub 2014 Feb 17.

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.2014.1955DOI Listing
April 2014

The Fas/Fas ligand death receptor pathway contributes to phenylalanine-induced apoptosis in cortical neurons.

PLoS One 2013 7;8(8):e71553. Epub 2013 Aug 7.

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

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0071553PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3737091PMC
March 2014

22q11.2 Microduplication in a patient with 19p13.12-13.13 deletion.

Gene 2014 Mar 17;537(1):164-8. Epub 2013 Dec 17.

Pediatric Intensive Care Unit, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, PRChina. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2013.11.082DOI 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

Clinical and molecular genetic study of infantile-onset Pompe disease in Chinese patients: identification of 6 novel mutations.

Gene 2014 Feb 21;535(1):53-9. Epub 2013 Nov 21.

Department of Cardiology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2013.10.066DOI Listing
February 2014

Novel mutations in the SCNN1A gene causing Pseudohypoaldosteronism type 1.

PLoS One 2013 6;8(6):e65676. Epub 2013 Jun 6.

Research Division of Birth Defects, Institute of Pediatric Translational 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.0065676PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3675083PMC
January 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

A simple and convenient synthetic route to Ulipristal acetate.

Steroids 2013 Dec 2;78(12-13):1293-7. Epub 2013 Oct 2.

Key Laboratory of Drug-Targeting of Education Ministry and Department of Medicinal Chemistry, West China School of Pharmacy, Sichuan University, Chengdu 610041, PR China.

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https://linkinghub.elsevier.com/retrieve/pii/S0039128X130021
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http://dx.doi.org/10.1016/j.steroids.2013.09.009DOI Listing
December 2013

Molecular defects identified by whole exome sequencing in a child with Fanconi anemia.

Gene 2013 Nov 22;530(2):295-300. Epub 2013 Aug 22.

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

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http://dx.doi.org/10.1016/j.gene.2013.08.031DOI Listing
November 2013

A unique combination of 17pter trisomy and 21qter monosomy in a boy with developmental delay, severe intellectual disability, growth retardation and dysmorphisms.

Gene 2013 Mar 4;516(2):301-6. Epub 2013 Jan 4.

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

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http://dx.doi.org/10.1016/j.gene.2012.12.090DOI Listing
March 2013

Identification of LDLR mutations in two Chinese pedigrees with familial hypercholesterolemia.

J Pediatr Endocrinol Metab 2012 ;25(7-8):769-73

Research Division of Birth Defects, Institute of Pediatric Translational Medicine, Shanghai Jiaotong University School of Medicine, Shanghai, P.R. China

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http://dx.doi.org/10.1515/jpem-2012-0024DOI Listing
January 2013

Exome and whole-genome sequencing as clinical tests: a transformative practice in molecular diagnostics.

Clin Chem 2012 Nov 11;58(11):1507-9. Epub 2012 Oct 11.

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

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http://dx.doi.org/10.1373/clinchem.2012.193128DOI Listing
November 2012

Genome-wide detection of natural selection in African Americans pre- and post-admixture.

Genome Res 2012 Mar 29;22(3):519-27. Epub 2011 Nov 29.

Chinese Academy of Sciences Key Laboratory of Computational Biology, Chinese Academy of Sciences and Max Planck Society (CAS-MPG) Partner Institute for Computational Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, China.

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http://dx.doi.org/10.1101/gr.124784.111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3290787PMC
March 2012

Age- and gender-dependent obesity in individuals with 16p11.2 deletion.

J Genet Genomics 2011 Sep 17;38(9):403-9. Epub 2011 Aug 17.

Department of Laboratory Medicine, Children's Hospital Boston, Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.jgg.2011.08.003DOI Listing
September 2011

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Authors:
Sébastien Jacquemont Alexandre Reymond Flore Zufferey Louise Harewood Robin G Walters Zoltán Kutalik Danielle Martinet Yiping Shen Armand Valsesia Noam D Beckmann Gudmar Thorleifsson Marco Belfiore Sonia Bouquillon Dominique Campion Nicole de Leeuw Bert B A de Vries Tõnu Esko Bridget A Fernandez Fernando Fernández-Aranda José Manuel Fernández-Real Mònica Gratacòs Audrey Guilmatre Juliane Hoyer Marjo-Riitta Jarvelin R Frank Kooy Ants Kurg Cédric Le Caignec Katrin Männik Orah S Platt Damien Sanlaville Mieke M Van Haelst Sergi Villatoro Gomez Faida Walha Bai-Lin Wu Yongguo Yu Azzedine Aboura Marie-Claude Addor Yves Alembik Stylianos E Antonarakis Benoît Arveiler Magalie Barth Nathalie Bednarek Frédérique Béna Sven Bergmann Mylène Beri Laura Bernardini Bettina Blaumeiser Dominique Bonneau Armand Bottani Odile Boute Han G Brunner Dorothée Cailley Patrick Callier Jean Chiesa Jacqueline Chrast Lachlan Coin Charles Coutton Jean-Marie Cuisset Jean-Christophe Cuvellier Albert David Bénédicte de Freminville Bruno Delobel Marie-Ange Delrue Bénédicte Demeer Dominique Descamps Gérard Didelot Klaus Dieterich Vittoria Disciglio Martine Doco-Fenzy Séverine Drunat Bénédicte Duban-Bedu Christèle Dubourg Julia S El-Sayed Moustafa Paul Elliott Brigitte H W Faas Laurence Faivre Anne Faudet Florence Fellmann Alessandra Ferrarini Richard Fisher Elisabeth Flori Lukas Forer Dominique Gaillard Marion Gerard Christian Gieger Stefania Gimelli Giorgio Gimelli Hans J Grabe Agnès Guichet Olivier Guillin Anna-Liisa Hartikainen Délphine Heron Loyse Hippolyte Muriel Holder Georg Homuth Bertrand Isidor Sylvie Jaillard Zdenek Jaros Susana Jiménez-Murcia Géraldine Joly Helas Philippe Jonveaux Satu Kaksonen Boris Keren Anita Kloss-Brandstätter Nine V A M Knoers David A Koolen Peter M Kroisel Florian Kronenberg Audrey Labalme Emilie Landais Elisabetta Lapi Valérie Layet Solenn Legallic Bruno Leheup Barbara Leube Suzanne Lewis Josette Lucas Kay D MacDermot Pall Magnusson Christian Marshall Michèle Mathieu-Dramard Mark I McCarthy Thomas Meitinger Maria Antonietta Mencarelli Giuseppe Merla Alexandre Moerman Vincent Mooser Fanny Morice-Picard Mafalda Mucciolo Matthias Nauck Ndeye Coumba Ndiaye Ann Nordgren Laurent Pasquier Florence Petit Rolph Pfundt Ghislaine Plessis Evica Rajcan-Separovic Gian Paolo Ramelli Anita Rauch Roberto Ravazzolo Andre Reis Alessandra Renieri Cristobal Richart Janina S Ried Claudine Rieubland Wendy Roberts Katharina M Roetzer Caroline Rooryck Massimiliano Rossi Evald Saemundsen Véronique Satre Claudia Schurmann Engilbert Sigurdsson Dimitri J Stavropoulos Hreinn Stefansson Carola Tengström Unnur Thorsteinsdóttir Francisco J Tinahones Renaud Touraine Louis Vallée Ellen van Binsbergen Nathalie Van der Aa Catherine Vincent-Delorme Sophie Visvikis-Siest Peter Vollenweider Henry Völzke Anneke T Vulto-van Silfhout Gérard Waeber Carina Wallgren-Pettersson Robert M Witwicki Simon Zwolinksi Joris Andrieux Xavier Estivill James F Gusella Omar Gustafsson Andres Metspalu Stephen W Scherer Kari Stefansson Alexandra I F Blakemore Jacques S Beckmann Philippe Froguel

Nature 2011 Aug 31;478(7367):97-102. Epub 2011 Aug 31.

Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland.

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http://dx.doi.org/10.1038/nature10406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637175PMC
August 2011

Molecular characterization of 25 Chinese pedigrees with 21-hydroxylase deficiency.

Genet Test Mol Biomarkers 2011 Mar 3;15(3):137-42. Epub 2011 Jan 3.

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

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http://dx.doi.org/10.1089/gtmb.2010.0131DOI Listing
March 2011

Protective effects of insulin on polychlorinated biphenyls-induced disruption of actin cytoskeleton in hippocampal neurons.

Environ Toxicol 2007 Apr;22(2):152-8

Shanghai Key Laboratory of Children's Environmental Health, XinHua Hospital, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China.

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http://dx.doi.org/10.1002/tox.20247DOI Listing
April 2007

Polychlorinated biphenyls disrupt the actin cytoskeleton in hippocampal neurons.

Environ Toxicol Pharmacol 2007 Mar 17;23(2):140-6. Epub 2006 Aug 17.

Department of Children's Environmental Health, XinHua Hospital, Shanghai JiaoTong University, Shanghai 200092, China.

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http://dx.doi.org/10.1016/j.etap.2006.08.003DOI Listing
March 2007