Literature DB >> 9650775

Two cases of prenatally diagnosed diaphragmatic hernia accompanied by the same undescribed chromosomal deletion (15q24 de novo)

D Bettelheim, M Hengstschläger, R Drahonsky, W Eppel, G Bernaschek.   

Abstract

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Year:  1998        PMID： 9650775     DOI： 10.1111/j.1399-0004.1998.tb02706.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  7 in total

1.  Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26.

Authors:  M A Pujana; M Nadal; M Gratacòs; B Peral; K Csiszar; R González-Sarmiento; L Sumoy; X Estivill
Journal:  Genome Res       Date:  2001-01       Impact factor: 9.043

2.  Mouse lacking COUP-TFII as an animal model of Bochdalek-type congenital diaphragmatic hernia.

Authors:  Li-Ru You; Norio Takamoto; Cheng-Tai Yu; Toshiya Tanaka; Tatsuhiko Kodama; Francesco J Demayo; Sophia Y Tsai; Ming-Jer Tsai
Journal:  Proc Natl Acad Sci U S A       Date:  2005-10-26       Impact factor: 11.205

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.  Prenatal diagnosis of congenital diaphragmatic hernia in a fetus with 46,XY/46,X,-Y,+der(Y)t(Y;1)(q12;q12) mosaicism: a case report.

Authors:  Hyun Young Ahn; Jong Chul Shin; Yeon Hee Kim; Hyun Sun Ko; In Yang Park; Sa Jin Kim; Jong Gu Rha; Soo Pyung Kim
Journal:  J Korean Med Sci       Date:  2005-10       Impact factor: 2.153

5.  Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.

Authors:  Ayman W El-Hattab; Teresa A Smolarek; Martha E Walker; Elizabeth K Schorry; LaDonna L Immken; Gayle Patel; Mary-Alice Abbott; Brendan C Lanpher; Zhishuo Ou; Sung-Hae L Kang; Ankita Patel; Fernando Scaglia; James R Lupski; Sau Wai Cheung; Pawel Stankiewicz
Journal:  Hum Genet       Date:  2009-06-26       Impact factor: 4.132

6.  A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

Authors:  Eva Klopocki; Luitgard M Graul-Neumann; Ulrike Grieben; Holger Tönnies; Hans-Hilger Ropers; Denise Horn; Stefan Mundlos; Reinhard Ullmann
Journal:  Eur J Pediatr       Date:  2007-10-12       Impact factor: 3.183

7.  Retinal dehydrogenase-2 is inhibited by compounds that induce congenital diaphragmatic hernias in rodents.

Authors:  Jörg Mey; Randal P Babiuk; Robin Clugston; Wei Zhang; John J Greer
Journal:  Am J Pathol       Date:  2003-02       Impact factor: 4.307
  7 in total

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