Literature DB >> 3560170

Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum.

A A Connacher, C C Forsyth, W K Stewart.   

Abstract

We report a female case of orofaciodigital syndrome type I (OFD I) associated with polycystic kidneys and agenesis of the corpus callosum. She had chronic renal failure requiring maintenance dialysis and significant neurological deficits. Her mother had less severe OFD I associated with polycystic kidneys but her renal function was normal and there was no clinical or radiological evidence of a structural abnormality of the brain.

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Year:  1987        PMID： 3560170      PMCID： PMC1049904          DOI： 10.1136/jmg.24.2.116

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


  7 in total

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Authors:  C C Tucker; S C Finley; E S Tucker; W H Finley
Journal:  J Med Genet       Date:  1966-06       Impact factor: 6.318

7.  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
  7 in total
  9 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.  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

Review 3.  Absence makes the search grow longer.

Authors:  W B Dobyns
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

4.  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

5.  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

6.  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

7.  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

8.  Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex.

Authors:  Giovanna Giorgio; Mariaevelina Alfieri; Clelia Prattichizzo; Alessandro Zullo; Stefano Cairo; Brunella Franco
Journal:  Mol Biol Cell       Date:  2007-08-29       Impact factor: 4.138

9.  NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.

Authors:  Weining Lu; Fabiola Quintero-Rivera; Yanli Fan; Fowzan S Alkuraya; Diana J Donovan; Qiongchao Xi; Annick Turbe-Doan; Qing-Gang Li; Craig G Campbell; Alan L Shanske; Elliott H Sherr; Ayesha Ahmad; Roxana Peters; Benedict Rilliet; Paloma Parvex; Alexander G Bassuk; David J Harris; Heather Ferguson; Chantal Kelly; Christopher A Walsh; Richard M Gronostajski; Koenraad Devriendt; Anne Higgins; Azra H Ligon; Bradley J Quade; Cynthia C Morton; James F Gusella; Richard L Maas
Journal:  PLoS Genet       Date:  2007-05-25       Impact factor: 5.917
  9 in total

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