Literature DB >> 10819644

Sex reversal and diaphragmatic hernia in phenotypicaly female sibs with normal XY chromosomes.

S Manouvrier-Hanu, R Besson, L Cousin, C Jeanpierre, N Kacet, M Cartigny, L Devisme, L Storme, B De Martinville, P Lequien.   

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Year:  2000        PMID: 10819644      PMCID: PMC1734560          DOI: 10.1136/jmg.37.4.315

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


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  5 in total

1.  Impaired mesenchymal cell function in Gata4 mutant mice leads to diaphragmatic hernias and primary lung defects.

Authors:  Patrick Y Jay; Malgorzata Bielinska; Jonathan M Erlich; Susanna Mannisto; William T Pu; Markku Heikinheimo; David B Wilson
Journal:  Dev Biol       Date:  2006-10-05       Impact factor: 3.582

Review 2.  46,XY disorders of sex development and congenital diaphragmatic hernia: a case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactyly.

Authors:  Edward D Esplin; Hassan Chaib; Michael Haney; Brock Martin; Margaret Homeyer; Alexander E Urban; Jonathan A Bernstein
Journal:  Am J Med Genet A       Date:  2015-04-21       Impact factor: 2.802

3.  Infants with Bochdalek diaphragmatic hernia: sibling precurrence and monozygotic twin discordance in a hospital-based malformation surveillance program.

Authors:  Barbara R Pober; Angela Lin; Meaghan Russell; Kate G Ackerman; Sharmila Chakravorty; Bernarda Strauss; Marie Noel Westgate; Jay Wilson; Patricia K Donahoe; Lewis B Holmes
Journal:  Am J Med Genet A       Date:  2005-10-01       Impact factor: 2.802

Review 4.  Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH.

Authors:  Barbara R Pober
Journal:  Am J Med Genet C Semin Med Genet       Date:  2007-05-15       Impact factor: 3.908

Review 5.  Molecular genetics of congenital diaphragmatic defects.

Authors:  Malgorzata Bielinska; Patrick Y Jay; Jonathan M Erlich; Susanna Mannisto; Zsolt Urban; Markku Heikinheimo; David B Wilson
Journal:  Ann Med       Date:  2007       Impact factor: 4.709

  5 in total

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