GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer‐Rokitansky‐Kuster‐Hauser syndrome
出版年份 2020 全文链接
标题
GREB1L
variants in familial and sporadic hereditary urogenital adysplasia and
Mayer‐Rokitansky‐Kuster‐Hauser
syndrome
作者
关键词
-
出版物
CLINICAL GENETICS
Volume -, Issue -, Pages -
出版商
Wiley
发表日期
2020-05-07
DOI
10.1111/cge.13769
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome. A case report
- (2019) Morten K Herlin et al. HUMAN REPRODUCTION
- Joint utilization of genetic analysis and semi-cloning technology reveals a digenic etiology of Müllerian anomalies
- (2019) Lingbo Wang et al. CELL RESEARCH
- Array-comparative genomic hybridization analysis in patients with Müllerian fusion anomalies
- (2018) S. Ledig et al. CLINICAL GENETICS
- Targeted gene sequencing and whole-exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies
- (2018) M. Rasmussen et al. CLINICAL GENETICS
- De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness
- (2018) Isabelle Schrauwen et al. HUMAN GENETICS
- Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract
- (2018) Amelie T. van der Ven et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- CADD: predicting the deleteriousness of variants throughout the human genome
- (2018) Philipp Rentzsch et al. NUCLEIC ACIDS RESEARCH
- A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans
- (2017) Patrick D. Brophy et al. GENETICS
- Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis
- (2017) Sarah Boissel et al. GENETICS IN MEDICINE
- A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans
- (2017) Patrick D. Brophy et al. GENETICS
- Etiologies of uterine malformations
- (2016) Adeline Jacquinet et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome
- (2016) L. Fontana et al. CLINICAL GENETICS
- Variations in RBM8A and TBX6 are associated with disorders of the müllerian ducts
- (2015) Ann-Christin Tewes et al. FERTILITY AND STERILITY
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Familial occurrence of Mayer-Rokitansky-Küster-Hauser syndrome: A case report and review of the literature
- (2014) Morten Herlin et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation
- (2013) J. B. Hiatt et al. GENOME RESEARCH
- TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia
- (2013) Maria Sandbacka et al. Orphanet Journal of Rare Diseases
- The prevalence of congenital uterine anomalies in unselected and high-risk populations: a systematic review
- (2011) Y.Y. Chan et al. HUMAN REPRODUCTION UPDATE
- High incidence of recurrent copy number variants in patients with isolated and syndromic Mullerian aplasia
- (2011) S. Nik-Zainal et al. JOURNAL OF MEDICAL GENETICS
- Hereditary urogenital adysplasia
- (2010) R. Neil Schimke et al. CLINICAL GENETICS
- Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++
- (2010) Eugene V. Davydov et al. PLoS Computational Biology
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