Literature DB >> 8042677

Autosomal recessive congenital diaphragmatic defects in the Arabs.

T I Farag, L Bastaki, M Marafie, S A al-Awadi, J Krsz.   

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Year:  1994        PMID: 8042677     DOI: 10.1002/ajmg.1320500316

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


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  5 in total

1.  Congenital diaphragmatic hernia with probable autosomal recessive inheritance in an extended consanguineous Pakistani pedigree.

Authors:  S J Mitchell; T Cole; D H Redford
Journal:  J Med Genet       Date:  1997-07       Impact factor: 6.318

2.  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 3.  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

4.  Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias.

Authors:  Eric L Bogenschutz; Zac D Fox; Andrew Farrell; Julia Wynn; Barry Moore; Lan Yu; Gudrun Aspelund; Gabor Marth; Mark Yandell; Yufeng Shen; Wendy K Chung; Gabrielle Kardon
Journal:  HGG Adv       Date:  2020-08-25

5.  Familial tetrasomy 4q35.2 associated with congenital diaphragmatic hernia and unilateral renal agenesis: a case report.

Authors:  Thomas Bogs; Florian Kipfmüller; Nicolai Kohlschmidt; Ulrich Gembruch; Andreas Müller; Heiko Reutter
Journal:  J Med Case Rep       Date:  2016-03-30
  5 in total

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