High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia
about
TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasiaThe genetic basis of female reproductive disorders: etiology and clinical testingGenetic Syndromes and Genes Involved in the Development of the Female Reproductive Tract: A Possible Role for Gene Therapy.A combination of transcriptome and methylation analyses reveals embryologically-relevant candidate genes in MRKH patientsEvaluation of SHOX copy number variations in patients with Müllerian aplasia.Clinical utility gene card for: Mayer-Rokitansky-Küster-Hauser syndrome.A genome-wide screen for copy number alterations in an adolescent pilot cohort with müllerian anomalies.A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 PathologyVertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literatureMultiple complex congenital malformations in a rabbit kit (Oryctolagus cuniculi).A balanced chromosomal translocation involving chromosomes 3 and 16 in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome reveals new candidate genes at 3p22.3 and 16p13.3.Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes.Identification and functional analysis of a novel LHX1 mutation associated with congenital absence of the uterus and vagina.HNF1B-associated clinical phenotypes: the kidney and beyond.Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.Mullerian dysgenesis: a critical review of the literature.Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families.Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array to identify the causative genetic aberrations of isolated Mayer-Rokitansky-Küster-Hauser syndrome.Hyperandrogenemia and ovarian reserve in patients with Mayer-Rokitansky-Küster-Hauser syndrome type 1 and 2: potential influences on ovarian stimulation.Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia.16p11.2 transcription factor MAZ is a dosage-sensitive regulator of genitourinary development.Clinical and genetic aspects of Mayer-Rokitansky-Küster-Hauser syndrome.Etiologies of uterine malformations.17q12 microdeletion syndrome: three patients illustrating the phenotypic spectrum.Familial occurrence of Mayer-Rokitansky-Küster-Hauser syndrome: a case report and review of the literature.
P2860
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P2860
High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
High incidence of recurrent co ...... nd syndromic Müllerian aplasia
@ast
High incidence of recurrent co ...... nd syndromic Müllerian aplasia
@en
type
label
High incidence of recurrent co ...... nd syndromic Müllerian aplasia
@ast
High incidence of recurrent co ...... nd syndromic Müllerian aplasia
@en
prefLabel
High incidence of recurrent co ...... nd syndromic Müllerian aplasia
@ast
High incidence of recurrent co ...... nd syndromic Müllerian aplasia
@en
P2093
P2860
P50
P356
P1476
High incidence of recurrent co ...... nd syndromic Müllerian aplasia
@en
P2093
Charles Shaw-Smith
Christine Schulze
Lionel Willatt
Matthew Hurles
Mekayla Storer
Nigel P Carter
Pamela L Strissel
Patricia G Oppelt
Peter Oppelt
P2860
P304
P356
10.1136/JMG.2010.082412
P407
P577
2011-01-28T00:00:00Z