4.5 Article

Utero-vaginal aplasia (Mayer-Rokitansky-Kuster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Genetics & Heredity

Terminal deletion of the long arm of chromosome 4 in a mother and two sons

Maria Descartes et al.

CLINICAL GENETICS (2010)

Article Genetics & Heredity

SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome

Cristina Gervasini et al.

GENETICS IN MEDICINE (2010)

Article Genetics & Heredity

Chromosome 8p23.1 Deletions as a Cause of Complex Congenital Heart Defects and Diaphragmatic Hernia

Margaret J. Wat et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)

Article Genetics & Heredity

Atypical deletion of 22q11.2: Detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays

Marie-Paule Beaujard et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2009)

Article Genetics & Heredity

Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion

Luis Fernandez et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)

Article Genetics & Heredity

Expanding the phenotype of 22q11 deletion syndrome: the MURCS association

Vera Uliana et al.

CLINICAL DYSMORPHOLOGY (2008)

Article Genetics & Heredity

Genomic imbalances associated with mullerian aplasia

C. Cheroki et al.

JOURNAL OF MEDICAL GENETICS (2008)

Article Genetics & Heredity

Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome

Usha T. Sundaram et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)

Review Genetics & Heredity

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome

Karine Morcel et al.

ORPHANET JOURNAL OF RARE DISEASES (2007)

Article Cell Biology

New insights into Fat cadherins

T Tanoue et al.

JOURNAL OF CELL SCIENCE (2005)

Article Biochemistry & Molecular Biology

Protocadherin FAT1 binds Ena/VASP proteins and is necessary for actin dynamics and cell polarization

MJ Moeller et al.

EMBO JOURNAL (2004)

Article Genetics & Heredity

Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome

SA Yatsenko et al.

CLINICAL GENETICS (2004)

Article Biochemistry & Molecular Biology

The fat-like gene of Drosophila is the true orthologue of vertebrate fat cadherins and is involved in the formation of tubular organs

C Castillejo-López et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2004)

Article Biochemistry & Molecular Biology

Multiplex PCR liquid chromatography assay for detection of gene rearrangements: application to RB1 gene

C Dehainault et al.

NUCLEIC ACIDS RESEARCH (2004)

Review Pediatrics

Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes)

E Perez et al.

CURRENT OPINION IN PEDIATRICS (2002)

Article Obstetrics & Gynecology

Mullerian agenesis: Etiology, diagnosis, and management

M Folch et al.

OBSTETRICAL & GYNECOLOGICAL SURVEY (2000)

Article Multidisciplinary Sciences

GATA3 haplo-insufficiency causes human HDR syndrome

H Van Esch et al.

NATURE (2000)