Publications by authors named "Zhengmao Hu"

93Publications

Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder.

Mol Autism 2020 Oct 6;11(1):75. Epub 2020 Oct 6.

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

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http://dx.doi.org/10.1186/s13229-020-00382-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7541261PMC
October 2020

Homozygosity mapping and next generation sequencing for the genetic diagnosis of hereditary ataxia and spastic paraplegia in consanguineous families.

Parkinsonism Relat Disord 2020 Sep 14;80:65-72. Epub 2020 Sep 14.

Department of Neurology, Xiangya Hospital, Central South University, Changsha, China; National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China; Key Laboratory of Organ Injury, Aging and Regenerative Medicine of Hunan Province, Changsha, China. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2020.09.013DOI Listing
September 2020

Excess of RALGAPB de novo variants in neurodevelopmental disorders.

Eur J Med Genet 2020 Nov 24;63(11):104041. Epub 2020 Aug 24.

Center of Medical Genetics & Hunan Key Laboratory of Medical Genetics, School Of Life Sciences, Central South University, Changsha, Hunan, China; Hunan Key Laboratory of Animal Models for Human Diseases, Changsha 410078, China. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.104041DOI Listing
November 2020

Genotype and Phenotype Correlations for TBL1XR1 in Neurodevelopmental Disorders.

J Mol Neurosci 2020 Jun 10. Epub 2020 Jun 10.

Center for Medical Genetics & Hunan Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

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http://dx.doi.org/10.1007/s12031-020-01615-7DOI Listing
June 2020

A founder splice site mutation leads to retinitis punctata albescens in two inbred Pakistani kindreds.

Ophthalmic Genet 2020 02 14;41(1):7-12. Epub 2020 Jan 14.

Centre for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

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http://dx.doi.org/10.1080/13816810.2019.1709124DOI Listing
February 2020

Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort.

Clin Genet 2020 02 14;97(2):338-346. Epub 2019 Nov 14.

Center for Medical Genetics & Hunan Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China.

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http://dx.doi.org/10.1111/cge.13665DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7307605PMC
February 2020

Genome-wide association analysis of autism identified multiple loci that have been reported as strong signals for neuropsychiatric disorders.

Autism Res 2020 03 24;13(3):382-396. Epub 2019 Oct 24.

Mental Health Institute, The Second Xiangya Hospital, Central South University, Changsha, China.

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http://dx.doi.org/10.1002/aur.2229DOI Listing
March 2020

Disruptive variants of associate with autism and interfere with neuronal development and synaptic transmission.

Sci Adv 2019 09 25;5(9):eaax2166. Epub 2019 Sep 25.

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

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http://dx.doi.org/10.1126/sciadv.aax2166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6760934PMC
September 2019

Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients.

Orphanet J Rare Dis 2019 09 18;14(1):221. Epub 2019 Sep 18.

Department of Pediatric Orthopaedics, Hunan Children's Hospital, The Pediatric Academy of the University of South China, 86# Ziyuan Road, Changsha, Hunan Province, 410007, People's Republic of China.

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http://dx.doi.org/10.1186/s13023-019-1196-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6751843PMC
September 2019

POGZ de novo missense variants in neuropsychiatric disorders.

Mol Genet Genomic Med 2019 09 25;7(9):e900. Epub 2019 Jul 25.

Center of Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.900
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http://dx.doi.org/10.1002/mgg3.900DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732319PMC
September 2019

Novel mutation of EDA causes new asymmetrical X-linked hypohidrotic ectodermal dysplasia phenotypes in a female.

J Dermatol 2019 Aug 26;46(8):731-733. Epub 2019 Jun 26.

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China.

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http://dx.doi.org/10.1111/1346-8138.14978DOI Listing
August 2019

Pathogenic missense mutation pattern of forkhead box genes in neurodevelopmental disorders.

Mol Genet Genomic Med 2019 07 14;7(7):e00789. Epub 2019 Jun 14.

Center for Medical Genetics & Hunan Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China.

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http://dx.doi.org/10.1002/mgg3.789DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625093PMC
July 2019

Rare inherited missense variants of POGZ associate with autism risk and disrupt neuronal development.

J Genet Genomics 2019 05 18;46(5):247-257. Epub 2019 May 18.

Center of Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410078, China; School of Life Sciences and Technology, Xinjiang University, Ürümqi, 830046, China; CAS Center for Excellence in Brain Science and Intelligence Technology (CEBSIT), Chinese Academy of Sciences, Shanghai, 200030, China. Electronic address:

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http://dx.doi.org/10.1016/j.jgg.2019.04.002DOI Listing
May 2019

A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family.

Clin Genet 2019 08 27;96(2):176-182. Epub 2019 May 27.

Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.

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http://dx.doi.org/10.1111/cge.13563DOI Listing
August 2019

Suppression of Akt-mTOR pathway rescued the social behavior in Cntnap2-deficient mice.

Sci Rep 2019 02 28;9(1):3041. Epub 2019 Feb 28.

Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, 410078, Hunan, P. R. China.

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http://dx.doi.org/10.1038/s41598-019-39434-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6395585PMC
February 2019

A novel variation of SERPINC1 caused deep venous thrombosis in a Chinese family: A case report.

Medicine (Baltimore) 2019 Jan;98(1):e13999

Department of Vascular Surgery, The Second Xiangya Hospital of Central South University.

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http://dx.doi.org/10.1097/MD.0000000000013999DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6344114PMC
January 2019

Genotype and phenotype correlations for SHANK3 de novo mutations in neurodevelopmental disorders.

Am J Med Genet A 2018 12 9;176(12):2668-2676. Epub 2018 Dec 9.

Center for Medical Genetics & Hunan Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.40666
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http://dx.doi.org/10.1002/ajmg.a.40666DOI Listing
December 2018

Genomic landscapes of Chinese sporadic autism spectrum disorders revealed by whole-genome sequencing.

J Genet Genomics 2018 10 21;45(10):527-538. Epub 2018 Oct 21.

Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325000, China; Beijing Institutes of Life Science, Chinese Academy of Sciences, Beijing 100101, China. Electronic address:

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http://dx.doi.org/10.1016/j.jgg.2018.09.002DOI Listing
October 2018

Identification of a VHL gene mutation in a Chinese family with Von Hippel‑Lindau syndrome.

Mol Med Rep 2018 Jul 4;18(1):435-440. Epub 2018 May 4.

National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P.R. China.

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http://dx.doi.org/10.3892/mmr.2018.8974DOI Listing
July 2018

Genotype-phenotype correlation and frequency of distribution in a cohort of Chinese Charcot-Marie-Tooth patients associated with GDAP1 mutations.

J Neurol 2018 Mar 25;265(3):637-646. Epub 2018 Jan 25.

Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, 410013, Hunan, China.

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http://dx.doi.org/10.1007/s00415-018-8743-9DOI Listing
March 2018

Not all neuroligin 3 and 4X missense variants lead to significant functional inactivation.

Brain Behav 2017 09 14;7(9):e00793. Epub 2017 Aug 14.

The Reproductive Medicine Hospital of the First Hospital of Lanzhou University Lanzhou Gansu China.

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http://dx.doi.org/10.1002/brb3.793DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5607556PMC
September 2017

Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.

Mol Psychiatry 2017 09 25;22(9):1282-1290. Epub 2017 Jul 25.

The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

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http://dx.doi.org/10.1038/mp.2017.140DOI Listing
September 2017

Exome sequencing identifies a novel missense mutation of WFS1 as the cause of non-syndromic low-frequency hearing loss in a Chinese family.

Int J Pediatr Otorhinolaryngol 2017 Sep 15;100:1-7. Epub 2017 Jun 15.

Department of Otolaryngology-Head and Neck Surgery, Xiangya Hospital, Central South University, Changsha, 410008, China; Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Changsha, 410008, China. Electronic address:

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http://dx.doi.org/10.1016/j.ijporl.2017.06.008DOI Listing
September 2017

IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients.

Neuromuscul Disord 2017 Feb 18;27(2):193-199. Epub 2016 Nov 18.

Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, China. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.11.008DOI Listing
February 2017

Insertion of a knockout-first cassette in Ampd1 gene leads to neonatal death by disruption of neighboring genes expression.

Sci Rep 2016 10 24;6:35970. Epub 2016 Oct 24.

Key laboratory of Hunan Province in Neurodegenerative Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China.

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http://dx.doi.org/10.1038/srep35970DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5075929PMC
October 2016

[Association of NLRP3 gene single nucleotide polymorphisms with metabolic syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2016 Aug;33(4):530-4

Department of Endocrinology, Xiangya Hospital, State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410008, China. Email:

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2016.04.024DOI Listing
August 2016

MORC2 mutations in a cohort of Chinese patients with Charcot-Marie-Tooth disease type 2.

Brain 2016 Oct 21;139(Pt 10):e56. Epub 2016 Jun 21.

1 Department of Neurology, The Third Xiangya Hospital of Central South University, Changsha, China

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http://dx.doi.org/10.1093/brain/aww156DOI Listing
October 2016

Identification of RELN variation p.Thr3192Ser in a Chinese family with schizophrenia.

Sci Rep 2016 Apr 13;6:24327. Epub 2016 Apr 13.

Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China.

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http://dx.doi.org/10.1038/srep24327DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4829830PMC
April 2016

AKAP2 identified as a novel gene mutated in a Chinese family with adolescent idiopathic scoliosis.

J Med Genet 2016 07 17;53(7):488-93. Epub 2016 Mar 17.

The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

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http://dx.doi.org/10.1136/jmedgenet-2015-103684DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4941158PMC
July 2016

MFN2-related genetic and clinical features in a cohort of Chinese CMT2 patients.

J Peripher Nerv Syst 2016 Mar;21(1):38-44

Department of Neurology, the Third Xiangya Hospital, Changsha, China.

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http://dx.doi.org/10.1111/jns.12159DOI Listing
March 2016

Identification of a GJA3 Mutation in a Large Family with Bilateral Congenital Cataract.

DNA Cell Biol 2016 Mar 18;35(3):135-9. Epub 2015 Dec 18.

2 The First Affiliated Hospital of Zhengzhou University , Zhengzhou, China .

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http://dx.doi.org/10.1089/dna.2015.3125DOI Listing
March 2016

GLA variation p.E66Q identified as the genetic etiology of Fabry disease using exome sequencing.

Gene 2016 Jan 9;575(2 Pt 1):363-7. Epub 2015 Oct 9.

The State Key Laboratory of Medical Genetics and School of Life Science, Central South University, Changsha, Hunan, China. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2015.09.088DOI Listing
January 2016

A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy.

Neurology 2015 Jun 15;84(24):2430-7. Epub 2015 May 15.

From the Department of Neurology, the Third Xiangya Hospital (X.L., L.L., Y.X., X.Z., R.Z.), State Key Laboratory of Medical Genetics (Z.H., J.W., K.X., B.T.), and Department of Physiology, Xiangya School of Medicine (X.L., L.W.), Central South University, Changsha, PR China.

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http://dx.doi.org/10.1212/WNL.0000000000001680DOI Listing
June 2015

Investigation of Gene Regulatory Networks Associated with Autism Spectrum Disorder Based on MiRNA Expression in China.

PLoS One 2015 10;10(6):e0129052. Epub 2015 Jun 10.

Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, P. R. China; State Key Laboratory of Medical Genetics of China, Central South University, Changsha, Hunan,410078, P. R. China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, 410008, P. R. China.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0129052PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4462583PMC
April 2016

A novel PAX6 deletion in a Chinese family with congenital aniridia.

Gene 2015 May 4;563(1):41-4. Epub 2015 Mar 4.

The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2015.03.001DOI Listing
May 2015

Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia.

Genet Med 2015 Apr 5;17(4):300-6. Epub 2015 Mar 5.

1] The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China [2] College of Life Science and Technology, Xinjiang University, Xinjiang, China [3] Key Laboratory of Medical Information Research, Central South University, Changsha, China.

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http://www.nature.com/articles/gim201528
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http://dx.doi.org/10.1038/gim.2015.28DOI Listing
April 2015

Association of genetic variants of GRIN2B with autism.

Sci Rep 2015 Feb 6;5:8296. Epub 2015 Feb 6.

1] The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China [2] College of Life Science and Technology, Xinjiang University, Xinjiang, China [3] Key Laboratory of Medical Information Research (Central South University), Changsha, Hunan, China.

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http://dx.doi.org/10.1038/srep08296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4319152PMC
February 2015

PMP22-Related neuropathies and other clinical manifestations in Chinese han patients with charcot-marie-tooth disease type 1.

Muscle Nerve 2015 Jul 31;52(1):69-75. Epub 2015 Mar 31.

Department of Neurology, Third Xiangya Hospital, Central South University, Changsha, 410013, Hunan Province, People's Republic of China.

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http://dx.doi.org/10.1002/mus.24550DOI Listing
July 2015

Novel missense mutation in the COL3A1 gene caused vascular Ehlers-Danlos syndrome in a Chinese family.

J Dermatol 2015 Jan 25;42(1):95-6. Epub 2014 Nov 25.

State Key Laboratory of Medical Genetics, Central South University, Changsha, China; Xiangtan Central Hospital, Xiangtan, China.

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http://dx.doi.org/10.1111/1346-8138.12696DOI Listing
January 2015

Common and rare variants of the THBS1 gene associated with the risk for autism.

Psychiatr Genet 2014 Dec;24(6):235-40

aSchool of Life Sciences bMental Health Institute of the Second Xiangya Hospital cState Key Laboratory of Medical Genetics dKey Laboratory of Medical Information Research, Central South University, Changsha, Hunan, China eMental Health Center of Shandong Province, Jinan, Shandong, China.

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http://pdfs.journals.lww.com/psychgenetics/2014/12000/Common
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/YPG.0000000000000054DOI Listing
December 2014

AMPD1 functional variants associated with autism in Han Chinese population.

Eur Arch Psychiatry Clin Neurosci 2015 Sep 26;265(6):511-7. Epub 2014 Aug 26.

State Key Laboratory of Medical Genetics, Central South University, 110, Xiangya Road, Changsha, Hunan, China.

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http://dx.doi.org/10.1007/s00406-014-0524-6DOI Listing
September 2015

Whole exome sequencing identifies a novel EMD mutation in a Chinese family with dilated cardiomyopathy.

BMC Med Genet 2014 Jul 5;15:77. Epub 2014 Jul 5.

State Key Lab of Medical Genetics, Central South University, 410008 Changsha, Hunan province, China.

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http://dx.doi.org/10.1186/1471-2350-15-77DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4105140PMC
July 2014

New ZNF644 mutations identified in patients with high myopia.

Mol Vis 2014 30;20:939-46. Epub 2014 Jun 30.

The State Key Laboratory of Medical Genetics, Central South University, Changsha, China ; School of Life Science, Central South University, Changsha, China.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4077594PMC
September 2014

SLC39A5 mutations interfering with the BMP/TGF-β pathway in non-syndromic high myopia.

J Med Genet 2014 Aug 2;51(8):518-25. Epub 2014 Jun 2.

The State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China School of Life Sciences, Central South University, Changsha, Hunan, China Key Laboratory of Medical Information Research, Changsha, Hunan, China.

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http://dx.doi.org/10.1136/jmedgenet-2014-102351DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4112430PMC
August 2014

Variations analysis of NLGN3 and NLGN4X gene in Chinese autism patients.

Mol Biol Rep 2014 Jun 26;41(6):4133-40. Epub 2014 Feb 26.

State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.

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http://dx.doi.org/10.1007/s11033-014-3284-5DOI Listing
June 2014

Identification of a known GJB6 mutation in an autosomal dominant inherited Chinese family with hidrotic ectodermal dysplasia.

Zhong Nan Da Xue Xue Bao Yi Xue Ban 2013 Aug;38(8):761-5

State Key Laboratory of Medical Genetics, Central South University, Changsha 410078,China.

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http://dx.doi.org/10.3969/j.issn.1672-7347.2013.08.001DOI Listing
August 2013

A diagnostic gene chip for hereditary spastic paraplegias.

Brain Res Bull 2013 Aug 10;97:112-8. Epub 2013 Jul 10.

Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan Province 410008, PR China.

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http://dx.doi.org/10.1016/j.brainresbull.2013.07.002DOI Listing
August 2013

Clinical and genetic identification of a large chinese family with autosomal dominant retinitis pigmentosa.

Ophthalmic Genet 2015 Mar 8;36(1):64-9. Epub 2013 Jul 8.

Department of Ophthalmology, The Second Xiangya Hospital, Xiangya School of Medicine, Central South University , Changsha , P.R. China .

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http://dx.doi.org/10.3109/13816810.2013.809458DOI Listing
March 2015

Disruption of Contactin 4 in two subjects with autism in Chinese population.

Gene 2012 Sep 28;505(2):201-5. Epub 2012 Jun 28.

State Key Laboratory of Medical Genetics, Central South University, Changsha, China.

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http://dx.doi.org/10.1016/j.gene.2012.06.051DOI Listing
September 2012

A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family.

Gene 2012 Jul 29;502(2):168-71. Epub 2012 Apr 29.

School of Biological Science and Technology, Central South University, Changsha, Hunan, China.

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http://dx.doi.org/10.1016/j.gene.2012.04.023DOI Listing
July 2012

Loss-of-function mutations in filaggrin gene associate with psoriasis vulgaris in Chinese population.

Hum Genet 2012 Jul 11;131(7):1269-74. Epub 2012 Mar 11.

State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.

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http://dx.doi.org/10.1007/s00439-012-1155-5DOI Listing
July 2012

Mutation analysis of the NRXN1 gene in a Chinese autism cohort.

J Psychiatr Res 2012 May 9;46(5):630-4. Epub 2012 Mar 9.

School of Biological Science and Technology, Central South University, Changsha, Hunan, China.

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http://dx.doi.org/10.1016/j.jpsychires.2011.10.015DOI Listing
May 2012

Genetics of autism spectrum disorders.

Zhong Nan Da Xue Xue Bao Yi Xue Ban 2011 Aug;36(8):703-11

Central South University, Changsha 410078,China.

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http://dx.doi.org/10.3969/j.issn.1672-7347.2011.08.001DOI Listing
August 2011

Gene localization in a Chinese family with autosomal dominant non-syndromic deafness.

Acta Otolaryngol 2011 Oct 8;131(10):1061-8. Epub 2011 Jun 8.

Department of Otolaryngology, Xiangya Hospital, Central South University, China.

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http://dx.doi.org/10.3109/00016489.2011.591822DOI Listing
October 2011

Novel mutations in the SOX10 gene in the first two Chinese cases of type IV Waardenburg syndrome.

Biochem Biophys Res Commun 2011 May 21;408(4):620-4. Epub 2011 Apr 21.

Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan, China.

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http://dx.doi.org/10.1016/j.bbrc.2011.04.072DOI Listing
May 2011

Unique penetrance of hearing loss in a five-generation Chinese family with the mitochondrial 12S rRNA 1555A > G mutation.

Acta Otolaryngol 2011 Sep 19;131(9):970-5. Epub 2011 Apr 19.

Department of Otolaryngology, Head and Neck Surgery, Xiangya Hospital, Central South University, Changsha City, Hunan Province, China.

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http://dx.doi.org/10.3109/00016489.2011.575794DOI Listing
September 2011

A novel locus for congenital simple microphthalmia family mapping to 17p12-q12.

Invest Ophthalmol Vis Sci 2011 May 18;52(6):3425-9. Epub 2011 May 18.

The State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.

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http://iovs.arvojournals.org/data/Journals/IOVS/933250/z7g00
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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.1
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http://dx.doi.org/10.1167/iovs.10-6747DOI Listing
May 2011

A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease.

Mol Vis 2010 Dec 8;16:2653-8. Epub 2010 Dec 8.

The State Key Laboratory of Medical Genetics of China, Central South University, ChangSha, China.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3002970PMC
December 2010

Report of two FOP cases with 617G>A mutation in the ACVR1 gene from Chinese population.

Clin Dysmorphol 2010 Oct;19(4):206-8

State Key Lab of Medical Genetics, Central South University, Changsha, China.

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http://dx.doi.org/10.1097/MCD.0b013e32833986c8DOI Listing
October 2010

No significant association between RELN polymorphism and autism in case-control and family-based association study in Chinese Han population.

Psychiatry Res 2011 May 7;187(3):462-4. Epub 2011 Apr 7.

Mental Health Institute of the Second Xiangya Hospital, Central South University, 139# Renmin Middle Road, Changsha, Hunan, China.

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http://dx.doi.org/10.1016/j.psychres.2010.04.051DOI Listing
May 2011

Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome.

Biochem Biophys Res Commun 2010 Jun 15;397(1):70-4. Epub 2010 May 15.

Department of Otolaryngology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, Hunan, China.

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http://dx.doi.org/10.1016/j.bbrc.2010.05.066DOI Listing
June 2010

Association analysis of CNTNAP2 polymorphisms with autism in the Chinese Han population.

Psychiatr Genet 2010 Jun;20(3):113-7

State Key Lab of Medical Genetics, Central South University, Changsha, Hunan, China.

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http://dx.doi.org/10.1097/YPG.0b013e32833a216fDOI Listing
June 2010

Mutation detection in candidate genes for benign familial infantile seizures on a novel locus.

Int J Neurosci 2010 Mar;120(3):217-21

Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, PR China.

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http://dx.doi.org/10.3109/00207450903477779DOI Listing
March 2010

Genetic screening for mutations in the Nrdp1 gene in Parkinson disease patients in a Chinese population.

Parkinsonism Relat Disord 2010 Mar 2;16(3):222-4. Epub 2009 Oct 2.

State Key Laboratory of Medical Genetics of China, Central South University, ChangSha, Hunan 410078, China.

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http://dx.doi.org/10.1016/j.parkreldis.2009.09.001DOI Listing
March 2010

[GJB2 (connexin 26) gene mutation screen in patients with nonsydromic hearing loss in Hunan].

Zhong Nan Da Xue Xue Bao Yi Xue Ban 2009 Jun;34(6):498-503

Department of Otolaryngology, Second Xiangya Hospital, Central South University, Changsha 410001, China.

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June 2009

Clinical and genetic features of a dominantly-inherited microphthalmia pedigree from China.

Mol Vis 2009 May 8;15:949-54. Epub 2009 May 8.

College of Medicine, Qingdao University, Qingdao, China.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2683027PMC
May 2009

Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus.

Mol Vis 2007 Sep 13;13:1674-9. Epub 2007 Sep 13.

Department of Neurology, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China.

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September 2007

Significant linkage and association between a functional (GT)n polymorphism in promoter of the N-methyl-D-aspartate receptor subunit gene (GRIN2A) and schizophrenia.

Neurosci Lett 2006 Nov 2;409(1):80-2. Epub 2006 Oct 2.

Institute of Mental Health, The Second Xiangya Hospital, Central South University, 139 Renmin Road, Changsha Hunan 410011, PR China.

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http://dx.doi.org/10.1016/j.neulet.2006.09.022DOI Listing
November 2006

Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease.

Hum Mol Genet 2006 Jun 21;15(11):1816-25. Epub 2006 Apr 21.

National Laboratory of Medical Genetics, Xiangya Hospital, Central South University, Changsha, Hunan 410078, China.

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http://dx.doi.org/10.1093/hmg/ddl104DOI Listing
June 2006

Mutation analysis of the ATM gene in two Chinese patients with ataxia telangiectasia.

J Neurol Sci 2006 Feb 27;241(1-2):1-6. Epub 2005 Dec 27.

Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China.

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http://dx.doi.org/10.1016/j.jns.2005.09.001DOI Listing
February 2006

Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease.

Arch Neurol 2005 Aug;62(8):1201-7

Department of Neurology, Xiangya Hospital, Central South University, Changsha, People's Republic of China.

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http://dx.doi.org/10.1001/archneur.62.8.1201DOI Listing
August 2005

[Studies on PANK2 gene mutations in Chinese patients with Hallervorden-Spatz syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2005 Apr;22(2):189-91

Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 P. R. China.

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April 2005

[ATM gene mutations in Chinese patients with ataxia telangiectasia].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2005 Apr;22(2):121-4

Department of Neurology, Xiangya Hospital, Central-South University, Changsha, Hunan, 410008 P. R. China.

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April 2005

Confirmation and refinement of a genetic locus of congenital motor nystagmus in Xq26.3-q27.1 in a Chinese family.

Hum Genet 2005 Jan 23;116(1-2):128-31. Epub 2004 Oct 23.

Department of Neurology of Second Hospital, Affiliated Zhejiang University, 310009 Hangzhou, China.

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http://dx.doi.org/10.1007/s00439-004-1188-5DOI Listing
January 2005

A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosa.

Mol Vis 2004 May 20;10:361-5. Epub 2004 May 20.

National Laboratory of Medical Genetics of China, The Second Xiangya Hospital, Central South University, Changsha, People's Republic of China.

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May 2004