WNT4 deficiency--a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report
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TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasiaMayer-Rokitansky-Küster-Hauser (MRKH) syndromeSERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4Mayer-Rokitansky-Kuster-Hauser syndrome: recent clinical and genetic findingsMolecular genetics of Müllerian duct formation, regression and differentiationDisulfide bond requirements for active Wnt ligands.Pax8 modulates the expression of Wnt4 that is necessary for the maintenance of the epithelial phenotype of thyroid cellsMutation analysis of the WNT4 gene in Han Chinese women with premature ovarian failure.Gene 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.R-spondin 1/dickkopf-1/beta-catenin machinery is involved in testicular embryonic angiogenesis.DSDs: genetics, underlying pathologies and psychosexual differentiation.A genome-wide screen for copy number alterations in an adolescent pilot cohort with müllerian anomalies.Literature-Informed Analysis of a Genome-Wide Association Study of Gestational Age in Norwegian Women and Children Suggests Involvement of Inflammatory Pathways.Association of WNT4 polymorphisms with endometriosis in infertile patientsMayer-rokitansky-kuster-hauser syndrome: embryology, genetics and clinical and surgical treatment.Interplay between Misplaced Müllerian-Derived Stem Cells and Peritoneal Immune Dysregulation in the Pathogenesis of Endometriosis.Molecular analysis of the beta-catenin gene in patients with the Mayer-Rokitansky-Küster-Hauser syndrome.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.Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports.Acne and PCOS are less frequent in women with Mayer-Rokitansky-Küster-Hauser syndrome despite a high rate of hyperandrogenemia: a cross-sectional studyGenetic control of ovarian development.Gene mutations associated with anomalies of human gonad formation.Adrenocortical growth and cancer.Sequence variants in ESR1 and OXTR are associated with Mayer-Rokitansky-Küster-Hauser syndrome.The Battle of the Sexes: Human Sex Development and Its Disorders.The biology of germ cell tumors in disorders of sex development.Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.Mechanism of Sex Determination in Humans: Insights from Disorders of Sex Development.Genetic Syndromes Affecting Kidney Development.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.Developmental Contribution of Wnt-signal-responsive Cells to Mouse Reproductive Tract FormationGenetic Screening of Iranian Patients with 46,XY Disorders of Sex Development.Congenital Malformations of the Reproductive Tract in a Patient with Poland Syndrome: Is There a Connection?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.SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome.Clinical and genetic aspects of Mayer-Rokitansky-Küster-Hauser syndrome.
P2860
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P2860
WNT4 deficiency--a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report
description
2007 nî lūn-bûn
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2007 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
WNT4 deficiency--a clinical ph ...... Hauser syndrome: a case report
@ast
WNT4 deficiency--a clinical ph ...... Hauser syndrome: a case report
@en
WNT4 deficiency--a clinical ph ...... Hauser syndrome: a case report
@en-gb
WNT4 deficiency--a clinical ph ...... Hauser syndrome: a case report
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type
label
WNT4 deficiency--a clinical ph ...... Hauser syndrome: a case report
@ast
WNT4 deficiency--a clinical ph ...... Hauser syndrome: a case report
@en
WNT4 deficiency--a clinical ph ...... Hauser syndrome: a case report
@en-gb
WNT4 deficiency--a clinical ph ...... Hauser syndrome: a case report
@nl
prefLabel
WNT4 deficiency--a clinical ph ...... Hauser syndrome: a case report
@ast
WNT4 deficiency--a clinical ph ...... Hauser syndrome: a case report
@en
WNT4 deficiency--a clinical ph ...... Hauser syndrome: a case report
@en-gb
WNT4 deficiency--a clinical ph ...... Hauser syndrome: a case report
@nl
P2093
P3181
P356
P1433
P1476
WNT4 deficiency--a clinical ph ...... Hauser syndrome: a case report
@en
P2093
Biason-Lauber A
De Filippo G
Schoenle EJ
P304
P3181
P356
10.1093/HUMREP/DEL360
P407
P577
2006-09-07T00:00:00Z