Literature DB >> 16252246

Narrowing the candidate region for congenital diaphragmatic hernia in chromosome 15q26: contradictory results.

L Castiglia, M Fichera, C Romano, O Galesi, L Grillo, M Sturnio, P Failla.   

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Year:  2005        PMID： 16252246      PMCID： PMC1271395          DOI： 10.1086/497082

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  10 in total

1.  De novo terminal deletion of chromosome 15q26.1 characterised by comparative genomic hybridisation and FISH with locus specific probes.

Authors:  H Tönnies; I Schulze; H Hennies; L M Neumann; R Keitzer; H Neitzel
Journal:  J Med Genet       Date:  2001-09       Impact factor: 6.318

2.  Distinct 15q genotypes in Russell-Silver and ring 15 syndromes.

Authors:  P K Rogan; J R Seip; D J Driscoll; P R Papenhausen; V P Johnson; S Raskin; A L Woodward; M G Butler
Journal:  Am J Med Genet       Date:  1996-03-01

3.  Human STX polysialyltransferase forms the embryonic form of the neural cell adhesion molecule. Tissue-specific expression, neurite outgrowth, and chromosomal localization in comparison with another polysialyltransferase, PST.

Authors:  K Angata; J Nakayama; B Fredette; K Chong; B Ranscht; M Fukuda
Journal:  J Biol Chem       Date:  1997-03-14       Impact factor: 5.157

4.  Polysialylated NCAM expression during motor axon outgrowth and myogenesis in the fetal rat.

Authors:  D W Allan; J J Greer
Journal:  J Comp Neurol       Date:  1998-02-16       Impact factor: 3.215

5.  Developmental regulation of polysialic acid synthesis in mouse directed by two polysialyltransferases, PST and STX.

Authors:  E Ong; J Nakayama; K Angata; L Reyes; T Katsuyama; Y Arai; M Fukuda
Journal:  Glycobiology       Date:  1998-04       Impact factor: 4.313

Review 6.  Long-term outlook for survivors of congenital diaphragmatic hernia.

Authors:  K K Nobuhara; D P Lund; J Mitchell; V Kharasch; J M Wilson
Journal:  Clin Perinatol       Date:  1996-12       Impact factor: 3.430

7.  Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization.

Authors:  M Klaassens; M van Dooren; H J Eussen; H Douben; A T den Dekker; C Lee; P K Donahoe; R J Galjaard; N Goemaere; R R de Krijger; C Wouters; J Wauters; B A Oostra; D Tibboel; A de Klein
Journal:  Am J Hum Genet       Date:  2005-03-04       Impact factor: 11.025

8.  Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients.

Authors:  Z Tümer; T L Harboe; E Blennow; V M Kalscheuer; N Tommerup; K Brøndum-Nielsen
Journal:  Am J Med Genet A       Date:  2004-11-01       Impact factor: 2.802

9.  Congenital diaphragmatic hernia: is 15q26.1-26.2 a candidate locus?

Authors:  Joseph R Biggio; Maria D Descartes; Andrew J Carroll; R Lynn Holt
Journal:  Am J Med Genet A       Date:  2004-04-15       Impact factor: 2.802

10.  A prospective study of the outcome for fetuses with diaphragmatic hernia.

Authors:  M R Harrison; N S Adzick; J M Estes; L J Howell
Journal:  JAMA       Date:  1994-02-02       Impact factor: 56.272
  10 in total
  5 in total

1.  Array Characterization of Prenatally Diagnosed 15q26 Microdeletion and 2q37.1 Duplication: Report of a New Case with Multicystic Kidneys and Review of the Literature.

Authors:  Molka Kammoun; Wafa Slimani; Hanene Hannachi; Mohamed Bibi; Ali Saad; Soumaya Mougou-Zerelli
Journal:  J Pediatr Genet       Date:  2017-04-26

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.  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 4.  Genetic aspects of human congenital diaphragmatic hernia.

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

5.  Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia.

Authors:  Lan Yu; Julia Wynn; Yee Him Cheung; Yufeng Shen; George B Mychaliska; Timothy M Crombleholme; Kenneth S Azarow; Foong Yen Lim; Dai H Chung; Douglas Potoka; Brad W Warner; Brian Bucher; Charles Stolar; Gudrun Aspelund; Marc S Arkovitz; Wendy K Chung
Journal:  Hum Genet       Date:  2012-11-09       Impact factor: 4.132
  5 in total

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