Literature DB >> 3560172

Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease.

D Donnai, L Kerzin-Storrar, R Harris.   

Abstract

A three generation family with orofaciodigital syndrome type I is described. Several family members had been thought to suffer from autosomal dominant polycystic kidney disease but examination of the proband led to establishment of the correct diagnosis. The genetic implications for the offspring of the affected women and other family members were significantly altered.

Entities:  

Mesh：

Year:  1987        PMID： 3560172      PMCID： PMC1049894          DOI： 10.1136/jmg.24.2.84

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  5 in total

1.  STUDIES OF A FAMILY WITH THE ORAL-FACIAL-DIGITAL SYNDROME.

Authors:  T C DOEGE; H C THULINE; J H PRIEST; D E NORBY; J S BRYANT
Journal:  N Engl J Med       Date:  1964-11-19       Impact factor: 91.245

2.  Orodigitofacial dysostosis--a new syndrome. A study of 22 cases.

Authors:  R J GORLIN; J PSAUME
Journal:  J Pediatr       Date:  1962-10       Impact factor: 4.406

3.  [Hereditary abnormality of the buccal mucosa: abnormal bands and frenula].

Authors:  J PSAUME
Journal:  Revue Stomatol       Date:  1954-04

4.  [The oro-facial-digital syndrome. Symptoms and prognosis].

Authors:  F Majewski; W Lenz; R A Pfeiffer; W Tünte; H Müller
Journal:  Z Kinderheilkd       Date:  1972

5.  Polycystic kidney disease in a patient with the oral-facial-digital syndrome - type I.

Authors:  M J Harrod; J Stokes; L F Peede; J L Goldstein
Journal:  Clin Genet       Date:  1976-02       Impact factor: 4.438
  5 in total
  9 in total

1.  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

2.  Adult polycystic kidney disease.

Authors:  R Harris
Journal:  J Med Genet       Date:  1987-08       Impact factor: 6.318

3.  Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I).

Authors:  Shilpa Chetty-John; Katie Piwnica-Worms; Joy Bryant; Isa Bernardini; Roxanne E Fischer; Theo Heller; William A Gahl; Meral Gunay-Aygun
Journal:  Am J Med Genet A       Date:  2010-10       Impact factor: 2.802

4.  Variability of expression of oral-facial-digital syndrome type I in 15 Saudi girls: Why is there a high rate of median cleft lip in the phenotype?

Authors:  Mohammad M Al-Qattan; K Javed
Journal:  Plast Surg (Oakv)       Date:  2014       Impact factor: 0.947

5.  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

6.  Orofaciodigital syndrome type I in a girl with unilateral tibial pseudarthrosis.

Authors:  K H Orstavik; S E Tangsrud; T Nordshus; A M Finnanger; C Hellum; E Gjessing
Journal:  J Med Genet       Date:  1992-11       Impact factor: 6.318

7.  A male with type I orofaciodigital syndrome.

Authors:  J Goodship; J Platt; R Smith; J Burn
Journal:  J Med Genet       Date:  1991-10       Impact factor: 6.318

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

Authors:  M I Ferrante; G Giorgio; S A Feather; A Bulfone; V Wright; M Ghiani; A Selicorni; L Gammaro; F Scolari; A S Woolf; O Sylvie; L Bernard; S Malcolm; R Winter; A Ballabio; B Franco
Journal:  Am J Hum Genet       Date:  2001-02-13       Impact factor: 11.025

9.  The pathogenesis of the clinical features of oral-facial-digital syndrome type I.

Authors:  Wael M AlKattan; Mohammad M Al-Qattan; Sameer A Bafaqeeh
Journal:  Saudi Med J       Date:  2015-11       Impact factor: 1.484
  9 in total

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