Literature DB >> 2363440

Terminal deletion of 6q and Fryns syndrome: a microdeletion/syndrome pair?

N Krassikoff, G S Sekhon.   

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Year:  1990        PMID： 2363440     DOI： 10.1002/ajmg.1320360327

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


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  8 in total

1.  Analysis of a familial three way translocation involving chromosomes 3q, 6q, and 15q by high resolution banding and fluorescent in situ hybridisation (FISH) shows two different unbalanced karyotypes in sibs.

Authors:  D Wieczorek; H Engels; R Viersbach; B Henke; G Schwanitz; E Passarge
Journal:  J Med Genet       Date:  1998-07       Impact factor: 6.318

2.  Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations.

Authors:  C Le Caignec; M Boceno; P Saugier-Veber; S Jacquemont; M Joubert; A David; T Frebourg; J M Rival
Journal:  J Med Genet       Date:  2005-02       Impact factor: 6.318

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

5.  Interstitial deletion of chromosome 6q: precise definition of the breakpoints by microdissection, DNA amplification, and reverse painting.

Authors:  N Rubtsov; G Senger; H Kuzcera; A Neumann; C Kelbova; K Junker; V Beensen; U Claussen
Journal:  Hum Genet       Date:  1996-06       Impact factor: 4.132

6.  Two fetuses with Fryns syndrome without diaphragmatic defects.

Authors:  K K Wilgenbus; R Engers; G Crombach; F Majewski
Journal:  J Med Genet       Date:  1994-12       Impact factor: 6.318

7.  Dysmorphic features and congenital heart disease in chromosome 6q deletion: A short report.

Authors:  Sreelata Nair; Rini Varghese; Sajeed Hashim; Pappachan Scariah
Journal:  Indian J Hum Genet       Date:  2012-01

8.  Fryns syndrome: a case associated with karyotype XO.

Authors:  Nader M H Dawani; Abdul Raoof Al Madhoob; Fuad Abdulla Ali; Fatima Shabib
Journal:  Ann Saudi Med       Date:  2004 Mar-Apr       Impact factor: 1.526
  8 in total

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