Literature DB >> 11478529

Considerations for a multiaxis nomenclature system for medical genetics.

N H Robin1, L G Biesecker.   

Abstract

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Year:  2001        PMID： 11478529     DOI： 10.1097/00125817-200107000-00004

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


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  9 in total

1.  Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 function.

Authors:  April N Meyer; Peggy Modaff; Clark G Wang; Elizabeth Wohler; Nara L Sobreira; Daniel J Donoghue; Richard M Pauli
Journal:  Am J Med Genet A       Date:  2020-12-02       Impact factor: 2.802

Review 2.  Polydactyly: how many disorders and how many genes? 2010 update.

Authors:  Leslie G Biesecker
Journal:  Dev Dyn       Date:  2011-03-28       Impact factor: 3.780

3.  Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype.

Authors:  Karen W Gripp; Elizabeth Hopkins; Alvaro Serrano; Norma J Leonard; Deborah L Stabley; Katia Sol-Church
Journal:  Am J Med Genet A       Date:  2012-04-09       Impact factor: 2.802

4.  Phenotypic and genetic characterization of patients with features of "nonclassic" forms of cystic fibrosis.

Authors:  Joshua D Groman; Barbara Karczeski; Molly Sheridan; Terry E Robinson; M Daniele Fallin; Garry R Cutting
Journal:  J Pediatr       Date:  2005-05       Impact factor: 4.406

Review 5.  DIAGNOSIS OF ENDOCRINE DISEASE: Mosaic disorders of FGF23 excess: Fibrous dysplasia/McCune-Albright syndrome and cutaneous skeletal hypophosphatemia syndrome.

Authors:  Luis F de Castro; Diana Ovejero; Alison M Boyce
Journal:  Eur J Endocrinol       Date:  2020-05       Impact factor: 6.664

6.  IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families.

Authors:  E J Leslie; D C Koboldt; C J Kang; L Ma; J T Hecht; G L Wehby; K Christensen; A E Czeizel; F W-B Deleyiannis; R S Fulton; R K Wilson; T H Beaty; B C Schutte; J C Murray; M L Marazita
Journal:  Clin Genet       Date:  2015-10-01       Impact factor: 4.438

7.  Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.

Authors:  Karen W Gripp; Elizabeth Hopkins; Katia Sol-Church; Deborah L Stabley; Marni E Axelrad; Daniel Doyle; William B Dobyns; Cindy Hudson; John Johnson; Romano Tenconi; Gail E Graham; Ana Berta Sousa; Raoul Heller; Maria Piccione; Giovanni Corsello; Gail E Herman; Marco Tartaglia; Angela E Lin
Journal:  Am J Med Genet A       Date:  2011-03-15       Impact factor: 2.802

8.  A dyadic genotype-phenotype approach to diagnostic criteria for Proteus syndrome.

Authors:  Julie C Sapp; Anna Buser; Jasmine Burton-Akright; Kim M Keppler-Noreuil; Leslie G Biesecker
Journal:  Am J Med Genet C Semin Med Genet       Date:  2019-11-06       Impact factor: 3.359

9.  Mosaic disorders and the Taxonomy of Human Disease.

Authors:  Leslie G Biesecker
Journal:  Genet Med       Date:  2017-12-07       Impact factor: 8.864
  9 in total

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