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Literature DB >> 8281288

Oral-facial-digital syndromes, 1992.

Abstract

In 1988, there were seven conditions which could be considered distinct oral-facial-digital syndromes (OFDS). Currently there are at least nine, as well as different classification systems in use. This paper provides an update on recently described OFDS, and discusses alternative classification systems.

Mesh：

Year: 1993 PMID： 8281288

Source DB: PubMed Journal: Clin Dysmorphol ISSN： 0962-8827 Impact factor: 0.816

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Cited

15 in total

1. Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts.

Authors: Takeshi Morisawa; Mariko Yagi; Agus Surono; Naoki Yokoyama; Makoto Ohmori; Hiroto Terashi; Masafumi Matsuo
Journal: Hum Genet Date: 2004-06-02 Impact factor: 4.132

2. Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study.

Authors: C Thauvin-Robinet; M Cossée; V Cormier-Daire; L Van Maldergem; A Toutain; Y Alembik; E Bieth; V Layet; P Parent; A David; A Goldenberg; G Mortier; D Héron; P Sagot; A M Bouvier; F Huet; V Cusin; A Donzel; D Devys; J R Teyssier; L Faivre
Journal: J Med Genet Date: 2006-01 Impact factor: 6.318

3. Laryngeal and tracheal anomalies in an infant with oral-facial-digital syndrome type VI (Váradi-Papp): report of a transitional type.

Authors: Laura L Hayes; Stephen F Simoneaux; Susan Palasis; Dmitriy M Niyazov
Journal: Pediatr Radiol Date: 2008-05-14

4. Rare case of orofaciodigital syndrome type I.

Authors: Abhishek Bahadur Singh; Manish Girhotra; Medha Goel; Shilpee Bhatia
Journal: BMJ Case Rep Date: 2013-02-14

5. Oral-facial-digital syndrome type IX in a patient with Dandy-Walker malformation.

Authors: K Nagai; M Nagao; M Nagao; S Yanai; K Minagawa; Y Takahashi; Y Takekoshi; A Ishizaka; Y Matsuzono; O Kobayashi; T Itagaki
Journal: J Med Genet Date: 1998-04 Impact factor: 6.318

6. Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.

Authors: Izak J Bisschoff; Christine Zeschnigk; Denise Horn; Brigitte Wellek; Angelika Rieß; Maja Wessels; Patrick Willems; Peter Jensen; Andreas Busche; Jens Bekkebraten; Maya Chopra; Hanne Dahlgaard Hove; Christina Evers; Ketil Heimdal; Ann-Sophie Kaiser; Erdmut Kunstmann; Kristina Lagerstedt Robinson; Maja Linné; Patricia Martin; James McGrath; Winnie Pradel; Katrina E Prescott; Bernd Roesler; Gorazd Rudolf; Ulrike Siebers-Renelt; Nataliya Tyshchenko; Dagmar Wieczorek; Gerhard Wolff; William B Dobyns; Deborah J Morris-Rosendahl
Journal: Hum Mutat Date: 2012-10-17 Impact factor: 4.878

Oral-facial-digital syndromes, 1992.

1. Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts.

2. Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study.

3. Laryngeal and tracheal anomalies in an infant with oral-facial-digital syndrome type VI (Váradi-Papp): report of a transitional type.

4. Rare case of orofaciodigital syndrome type I.

5. Oral-facial-digital syndrome type IX in a patient with Dandy-Walker malformation.

6. Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.

7. Orocardiodigital syndrome: an oral-facial-digital type II variant associated with atrioventricular canal.

8. Identification of the gene for oral-facial-digital type I syndrome.

9. The many faces of oral-facial-digital syndrome.

10. The promise of human induced pluripotent stem cells in dental research.