Search Results

Whole-exome sequencing detected a novel AIFM1 variant in a Han-Chinese family with Cowchock syndrome.

• Authors : Wang, Chenyu^1,2 (AUTHOR); Lin, Zhaojing³ (AUTHOR); Yuan, ZhuangZhuang² (AUTHOR)

• Source: Hereditas. 5/12/2023, Vol. 160 Issue 1, p1-6. 6p.

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Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families.

• Authors : Wang L; Institute of Medical Genetics, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, Henan 450003, P.R. China.; Qin L

Subjects: Asian People* ; Genetic Counseling* ; Prenatal Diagnosis*

• Source: Molecular medicine reports [Mol Med Rep] 2018 Jan; Vol. 17 (1), pp. 172-178. Date of Electronic Publication: 2017 Oct 25.Publisher: D. A. Spandidos Country of Publication: Greece NLM ID: 101475259 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Genetic analysis of a pedigree with MECP2 duplication syndrome in China.

• Authors : Zeng, Lan; Zhu, Hui; Wang, Jin

Subjects: CHROMOSOME analysis; GENEALOGY; RESPIRATORY infectionsCHINA

• Source: BMC Medical Genomics; 2/19/2024, Vol. 17 Issue 1, p1-9, 9p

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Hereditary deafness carrier screening in 9,993 Chinese individuals.

• Authors : Yanqiu Liu; Lei Wang; Lanlai Yuan

Subjects: MEDICAL screening; DEAFNESS; GENETIC testingCHINA

• Source: Frontiers in Genetics; 2024, p1-7, 7p

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Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree.

• Authors : Jiang, Keke; Wang, Shuying; Sun, Huixin

Subjects: GENETIC mutation; MISSENSE mutation; GENEALOGYCHINA

• Source: Molecular Genetics & Genomic Medicine; Jan2024, Vol. 12 Issue 1, p1-9, 9p

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Recurrent human 16p11.2 microdeletions in type I Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome patients in Chinese Han population.

• Authors : Su, Kaizhen; Liu, Han; Ye, Xiaoqun

Subjects: CHINESE people; COMPARATIVE genomic hybridization; GENETIC counselingCHINAFUDAN University (Shanghai, China)

• Source: Molecular Genetics & Genomic Medicine; Jan2024, Vol. 12 Issue 1, p1-10, 10p

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Study on The Pedigrees of Three Cases of Whole-Arm Translocation in Hainan China and Literature Review: A Retrospective Study.

• Authors : Chen Yunchun; Lin Yao; Zhao Zhengmin

Subjects: CHROMOSOME analysis; CHROMOSOME abnormalities -- Risk factors; CHINESE genealogyCHINA

• Source: International Journal of Fertility & Sterility; Jan-Mar2024, Vol. 18 Issue 1, p81-86, 6p

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The application of late amniocentesis: a retrospective study in a tertiary fetal medicine center in China.

• Authors : Li Y; Department of Obstetrics and Gynecology, Department of Fetal Medicine and Prenatal Diagnosis, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, 63 Duobao Road, Liwan District, Guangzhou, China.; Yan H

Subjects: Aneuploidy*; Amniocentesis/Amniocentesis/Amniocentesis/*statistics & numerical data ; Congenital Abnormalities/Congenital Abnormalities/Congenital Abnormalities/*diagnosis

• Source: BMC pregnancy and childbirth [BMC Pregnancy Childbirth] 2021 Mar 30; Vol. 21 (1), pp. 266. Date of Electronic Publication: 2021 Mar 30.Publisher: BioMed Central Country of Publication: England NLM ID: 100967799 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2393

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Development of Chinese genetic reference panel for Fragile X Syndrome and its application to the screen of 10,000 Chinese pregnant women and women planning pregnancy.

• Authors : Gao F; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; National Institutes for Food and Drug Control, Beijing, China.

Subjects: Alleles*; Fragile X Syndrome/Fragile X Syndrome/Fragile X Syndrome/*genetics ; Noninvasive Prenatal Testing/Noninvasive Prenatal Testing/Noninvasive Prenatal Testing/*standards

• Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Jun; Vol. 8 (6), pp. e1236. Date of Electronic Publication: 2020 Apr 12.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Hematological Characteristics of β-Globin Gene Mutation -50 (G>A) ( HBB : c.-100G>A) Carriers in Mainland China.

• Authors : Zhao Y; Prenatal Diagnosis Unit, Gansu Provincial Maternity and Child Care Hospital, Lanzhou, Gansu Province, People's Republic of China.; Jiang F

Subjects: Alleles* ; Heterozygote* ; Mutation*

• Source: Hemoglobin [Hemoglobin] 2020 Jul; Vol. 44 (4), pp. 240-243. Date of Electronic Publication: 2020 Jul 16.Publisher: Informa Healthcare Country of Publication: England NLM ID: 7705865 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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