Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome.
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TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasiaProximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypesCopy number variants in patients with severe oligozoospermia and Sertoli-cell-only syndrome.Molecular genetics of Müllerian duct formation, regression and differentiationAre copy number variants associated with adolescent idiopathic scoliosis?A complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy.Genetic 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 patientsGene expression profile of patients with Mayer-Rokitansky-Küster-Hauser syndrome: new insights into the potential role of developmental pathways.Evaluation of SHOX copy number variations in patients with Müllerian aplasia.Finished sequence and assembly of the DUF1220-rich 1q21 region using a haploid human genome.Associations of Polymorphisms in WNT9B and PBX1 with Mayer-Rokitansky-Küster-Hauser Syndrome in Chinese Han.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 rare association of schizophrenia and Mayer-Rokitansky-Küster-Hauser syndrome.Vertebral 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 literatureMayer-rokitansky-kuster-hauser syndrome: embryology, genetics and clinical and surgical treatment.MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian Agenesis.A Rare Case of Mayer-Rokitansky-Kuster-Hauser Syndrome Presenting with Acute Psychosis.Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes.Identification and functional analysis of a novel LHX1 mutation associated with congenital absence of the uterus and vagina.When hormone defects cannot explain it: malformative disorders of sex development.HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.Gestational surrogacy and the role of routine embryo screening: Current challenges and future directions for preimplantation genetic testing.Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.Mullerian dysgenesis: a critical review of the literature.The Identification of Microdeletion and Reciprocal Microduplication in 22q11.2 Using High-Resolution CMA Technology.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.Magnetic resonance imaging of vaginal support structure before and after Vecchietti procedure in women with Mayer-Rokitansky-Küster-Hauser syndrome.Clinical and genetic aspects of Mayer-Rokitansky-Küster-Hauser syndrome.Etiologies of uterine malformations.Familial occurrence of Mayer-Rokitansky-Küster-Hauser syndrome: a case report and review of the literature.Complex autism spectrum disorder in a patient with a 17q12 microduplicationExome and copy number variation analyses of Mayer-Rokitansky-Küster- Hauser syndrome
P2860
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P2860
Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
2010年學術文章
@zh-hant
name
Recurrent aberrations identifi ...... tansky-Küster-Hauser syndrome.
@en
Recurrent aberrations identifi ...... tansky-Küster-Hauser syndrome.
@nl
type
label
Recurrent aberrations identifi ...... tansky-Küster-Hauser syndrome.
@en
Recurrent aberrations identifi ...... tansky-Küster-Hauser syndrome.
@nl
prefLabel
Recurrent aberrations identifi ...... tansky-Küster-Hauser syndrome.
@en
Recurrent aberrations identifi ...... tansky-Küster-Hauser syndrome.
@nl
P2093
P1476
Recurrent aberrations identifi ...... tansky-Küster-Hauser syndrome.
@en
P2093
Patricia G Oppelt
Peter Wieacker
Reiner Strick
Susanne Ledig
P304
P356
10.1016/J.FERTNSTERT.2010.07.1062
P407
P577
2010-08-24T00:00:00Z