Literature DB >> 7815446

Diaphragmatic herniae and translocations involving 8q22 in two patients.

I K Temple1, J C Barber, R S James, D Burge.   

Abstract

Two girls with congenital diaphragmatic herniae are reported. Both were discovered to have a balanced reciprocal translocation involving 8q22.3. In one girl the translocation was de novo, in the other it was maternally inherited. Uniparental disomy was excluded in both. 8q22.3 may be the location of a gene affecting development of the diaphragm.

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Year:  1994        PMID： 7815446      PMCID： PMC1050088          DOI： 10.1136/jmg.31.9.735

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


  5 in total

1.  A second-generation linkage map of the human genome.

Authors:  J Weissenbach; G Gyapay; C Dib; A Vignal; J Morissette; P Millasseau; G Vaysseix; M Lathrop
Journal:  Nature       Date:  1992-10-29       Impact factor: 49.962

2.  Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms.

Authors:  T J Hudson; M Engelstein; M K Lee; E C Ho; M J Rubenfield; C P Adams; D E Housman; N C Dracopoli
Journal:  Genomics       Date:  1992-07       Impact factor: 5.736

3.  Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction.

Authors:  J L Weber; P E May
Journal:  Am J Hum Genet       Date:  1989-03       Impact factor: 11.025

4.  Familial congenital diaphragmatic defects: aspects of etiology, prenatal diagnosis, and treatment.

Authors:  R Norio; H Kääriäinen; J Rapola; R Herva; M Kekomäki
Journal:  Am J Med Genet       Date:  1984-02

5.  Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene.

Authors:  H Youssoufian; P Chance; C M Tuck-Muller; E W Jabs
Journal:  Hum Genet       Date:  1988-03       Impact factor: 4.132
  5 in total
  9 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.  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 3.  Genetic factors in congenital diaphragmatic hernia.

Authors:  A M Holder; M Klaassens; D Tibboel; A de Klein; B Lee; D A Scott
Journal:  Am J Hum Genet       Date:  2007-04-04       Impact factor: 11.025

4.  Identification of TCTE3 as a gene responsible for congenital diaphragmatic hernia using a high-resolution single-nucleotide polymorphism array.

Authors:  Risa Teshiba; Kouji Masumoto; Genshiro Esumi; Kouji Nagata; Yoshiaki Kinoshita; Tatsuro Tajiri; Tomoaki Taguchi; Ken Yamamoto
Journal:  Pediatr Surg Int       Date:  2011-02       Impact factor: 1.827

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

Review 6.  Genetic aspects of human congenital diaphragmatic hernia.

Authors:  B R Pober
Journal:  Clin Genet       Date:  2008-05-28       Impact factor: 4.438

Review 7.  Management of Congenital Diaphragmatic Hernia (CDH): Role of Molecular Genetics.

Authors:  Giulia Cannata; Chiara Caporilli; Federica Grassi; Serafina Perrone; Susanna Esposito
Journal:  Int J Mol Sci       Date:  2021-06-14       Impact factor: 5.923

8.  Genetic considerations in recurrent congenital diaphragmatic hernia in two siblings.

Authors:  Khalid AlFaleh; Kyong-Soon Lee; Jennifer Ramsey; Margaret Nowaczyk
Journal:  Ann Saudi Med       Date:  2006 Sep-Oct       Impact factor: 1.526

9.  Fog2 is required for normal diaphragm and lung development in mice and humans.

Authors:  Kate G Ackerman; Bruce J Herron; Sara O Vargas; Hailu Huang; Sergei G Tevosian; Lazaros Kochilas; Cherie Rao; Barbara R Pober; Randal P Babiuk; Jonathan A Epstein; John J Greer; David R Beier
Journal:  PLoS Genet       Date:  2005-06-17       Impact factor: 5.917
  9 in total

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