Literature DB >> 3411398

Confirmation of autosomal dominant transmission of the DiGeorge malformation complex.

L D Keppen1, J W Fasules, A W Burks, S M Gollin, J R Sawyer, C H Miller.   

Abstract

Mesh：

Year:  1988        PMID： 3411398     DOI： 10.1016/s0022-3476(88)80640-1

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  8 in total

1.  Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases.

Authors:  C Desmaze; M Prieur; F Amblard; M Aikem; F LeDeist; S Demczuk; J Zucman; B Plougastel; O Delattre; M F Croquette
Journal:  Am J Hum Genet       Date:  1993-12       Impact factor: 11.025

Review 2.  Phenotype of adults with the 22q11 deletion syndrome: A review.

Authors:  E Cohen; E W Chow; R Weksberg; A S Bassett
Journal:  Am J Med Genet       Date:  1999-10-08

3.  Facial dysmorphia, parathyroid and thymic dysfunction in the father of a newborn with the DiGeorge complex.

Authors:  P D Maaswinkel-Mooij; S E Papapoulos; E J Gerritsen; A H Mudde; J J Van de Kamp
Journal:  Eur J Pediatr       Date:  1989-12       Impact factor: 3.183

4.  Interstitial deletions in DiGeorge syndrome detected with microclones from 22q11.

Authors:  A H Carey; U Claussen; H J Lüdecke; B Horsthemke; D Ellis; H Oakey; D Wilson; J Burn; R Williamson; P J Scambler
Journal:  Mamm Genome       Date:  1992       Impact factor: 2.957

Review 5.  Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise.

Authors:  A H Lipson; D Yuille; M Angel; P G Thompson; J G Vandervoord; E J Beckenham
Journal:  J Med Genet       Date:  1991-09       Impact factor: 6.318

Review 6.  Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature.

Authors:  S Demczuk; A Lévy; M Aubry; M F Croquette; N Philip; M Prieur; U Sauer; P Bouvagnet; G A Rouleau; G Thomas
Journal:  Hum Genet       Date:  1995-07       Impact factor: 4.132

7.  DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin.

Authors:  D I Wilson; I E Cross; J A Goodship; S Coulthard; A H Carey; P J Scambler; H H Bain; A S Hunter; P E Carter; J Burn
Journal:  Br Heart J       Date:  1991-10

Review 8.  The DiGeorge anomaly.

Authors:  R Hong
Journal:  Clin Rev Allergy Immunol       Date:  2001-02       Impact factor: 10.817
  8 in total

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