Additional individuals with CHD7 variants in Chinese and other southeast Asian patients

被引：0
|
作者：
Wei, Heming [1 ]
Tan, Ee-Shien [2 ,3 ]
Jamuar, Saumya [2 ,3 ]
Lai, Angeline H. M. [2 ,3 ]
Ng, Ivy [2 ,3 ]
Tan, Ene-Choo [1 ,3 ]
机构：
[1] KK Womens & Childrens Hosp, Res Lab, Singapore, Singapore
[2] KK Womens & Childrens Hosp, Genet Serv, Singapore, Singapore
[3] SingHlth Duke NUS Grad Med Sch, Pediat Acad Clin Programme, Singapore, Singapore
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2020年 / 182卷 / 10期
基金：
新加坡国家研究基金会;
关键词：
CHARGE SYNDROME; PHENOTYPIC SPECTRUM; MUTATIONS; ASSOCIATION; UPDATE; GENE;
D O I：
10.1002/ajmg.a.61798
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：2461 / 2465
页数：5
相关论文
共 50 条
  • [41] CHD7missense variants and clinical characteristics of Chinese males with infertility
    Li, Leilei
    Wang, Ruixue
    Yu, Yang
    Zhang, Hongguo
    Jiang, Yuting
    Yang, Xiao
    Liu, Ruizhi
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2020, 8 (09):
  • [42] CHD7 mutations in patients initially diagnosed with Kallmann syndrome - the clinical overlap with CHARGE syndrome
    Jongmans, M. C. J.
    van Ravenswaaij-Arts, C. M. A.
    Pitteloud, N.
    Ogata, T.
    Sato, N.
    Claahsen-van der Grinten, H. L.
    van der Donk, K.
    Seminara, S.
    Bergman, J. E. H.
    Brunner, H. G.
    Crowley, W. F., Jr.
    Hoefsloot, L. H.
    CLINICAL GENETICS, 2009, 75 (01) : 65 - 71
  • [43] Reversible Congenital Hypogonadotropic Hypogonadism in Patients with CHD7, FGFR1 or GNRHR Mutations
    Laitinen, Eeva-Maria
    Tommiska, Johanna
    Sane, Timo
    Vaaralahti, Kirsi
    Toppari, Jorma
    Raivio, Taneli
    PLOS ONE, 2012, 7 (06):
  • [44] Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome
    Rossi, Cesare
    Ramadan, Sherin
    Evangelisti, Cecilia
    Ferrari, Simona
    Accadia, Maria
    Toydemir, Reha M.
    Panza, Emanuele
    FRONTIERS IN GENETICS, 2023, 14
  • [45] CHD7 Mutational Analysis and Clinical Considerations for Auditory Rehabilitation in Deaf Patients with CHARGE Syndrome
    Song, Mee Hyun
    Cho, Hyun-Ju
    Lee, Hee Keun
    Kwon, Tae Jun
    Lee, Won-Sang
    Oh, Sanghee
    Bok, Jinwoong
    Choi, Jae Young
    Kim, Un-Kyung
    PLOS ONE, 2011, 6 (09):
  • [46] The Prevalence of CHD7 Missense Versus Truncating Mutations Is Higher in Patients With Kallmann Syndrome Than in Typical CHARGE Patients
    Marcos, Severine
    Sarfati, Julie
    Leroy, Chrystel
    Fouveaut, Corinne
    Parent, Philippe
    Metz, Chantal
    Wolczynski, Slawomir
    Gerard, Marion
    Bieth, Eric
    Kurtz, Francois
    Verier-Mine, Odile
    Perrin, Laurence
    Archambeaud, Francoise
    Cabrol, Sylvie
    Rodien, Patrice
    Hove, Hanne
    Prescott, Trine
    Lacombe, Didier
    Christin-Maitre, Sophie
    Touraine, Philippe
    Hieronimus, Sylvie
    Dewailly, Didier
    Young, Jacques
    Pugeat, Michel
    Hardelin, Jean-Pierre
    Dode, Catherine
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2014, 99 (10): : E2138 - E2143
  • [47] Kalirin and CHD7: novel endothelial dysfunction indicators in circulating extracellular vesicles from hypertensive patients with albuminuria
    de la Cuesta, Fernando
    Baldan-Martin, Montserrat
    Moreno-Luna, Rafael
    Alvarez-Llamas, Gloria
    Gonzalez-Calero, Laura
    Mourino-Alvarez, Laura
    Sastre-Oliva, Tamara
    Lopez, Juan A.
    Vazquez, Jesus
    Ruiz-Hurtado, Gema
    Segura, Julian
    Vivanco, Fernando
    Ruilope, Luis M.
    Barderas, Maria G.
    ONCOTARGET, 2017, 8 (09) : 15553 - 15562
  • [48] Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review
    Pascual, Patricia
    Tenorio-Castano, Jair
    Mignot, Cyril
    Afenjar, Alexandra
    Arias, Pedro
    Gallego-Zazo, Natalia
    Parra, Alejandro
    Miranda, Lucia
    Cazalla, Mario
    Silvan, Cristina
    Heron, Delphine
    Keren, Boris
    Popa, Ioana
    Palomares, Maria
    Rikeros, Emi
    Ramos, Feliciano J.
    Almoguera, Berta
    Ayuso, Carmen
    Swafiri, Saoud Tahsin
    Barbero, Ana Isabel Sanchez
    Srinivasan, Varunvenkat M.
    Gowda, Vykuntaraju K.
    Morleo, Manuela
    Nigro, Vicenzo
    D'Arrigo, Stefano
    Ciaccio, Claudia
    Mesa, Carmen Martin
    Paumard, Beatriz
    Guillen, Gema
    Anton, Ana Teresa Serrano
    Jimenez, Marta Dominguez
    Seidel, Veronica
    Suarez, Julia
    Cormier-Daire, Valerie
    Nevado, Julian
    Lapunzina, Pablo
    GENES, 2023, 14 (09)
  • [49] Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome
    Michelucci, Angela
    Ghirri, Paolo
    Iacopetti, Paola
    Conidi, Maria Elena
    Fogli, Antonella
    Baldinotti, Fulvia
    Lunardi, Sara
    Forli, Francesca
    Moscuzza, Francesca
    Berrettini, Stefano
    Boldrini, Antonio
    Simi, Paolo
    Pellegrini, Silvia
    INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2010, 74 (12) : 1441 - 1444
  • [50] Southeast Asian countries vie with each other to woo foreign patients
    Choo, V
    LANCET, 2002, 360 (9338): : 1004 - 1004
12345