Literature DB >> 3712388

The orofaciodigital (OFD) syndromes.

M Baraitser.   

Abstract

Entities:  

Mesh：

Year:  1986        PMID： 3712388      PMCID： PMC1049564          DOI： 10.1136/jmg.23.2.116

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


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  7 in total

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

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

2.  Syndrome characterized by lingual malformation, polydactyly, tachypnea, and psychomotor retardation (Mohr syndrome).

Authors:  K H Gustavson; A Kreuger; P O Petersson
Journal:  Clin Genet       Date:  1971       Impact factor: 4.438

3.  Genetic and clinical heterogeneity in the oral-facial-digital syndromes.

Authors:  D L Rimoin; M T Edgerton
Journal:  J Pediatr       Date:  1967-07       Impact factor: 4.406

4.  Orofaciodigital syndrome with mesomelic limb shortening.

Authors:  J Burn; C Dezateux; C M Hall; M Baraitser
Journal:  J Med Genet       Date:  1984-06       Impact factor: 6.318

5.  Joubert-Boltshauser syndrome with polydactyly in siblings.

Authors:  J Egger; M H Bellman; E M Ross; M Baraitser
Journal:  J Neurol Neurosurg Psychiatry       Date:  1982-08       Impact factor: 10.154

6.  See-saw winking in a familial oral-facial-digital syndrome.

Authors:  G I Sugarman; M Katakia; J Menkes
Journal:  Clin Genet       Date:  1971       Impact factor: 4.438

7.  Further heterogeneity of the oral-facial-digital syndromes.

Authors:  P L Townes; B P Wood; J V McDonald
Journal:  Am J Dis Child       Date:  1976-05
  7 in total
  11 in total

Review 1.  X linked mental retardation.

Authors:  I A Glass
Journal:  J Med Genet       Date:  1991-06       Impact factor: 6.318

2.  TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.

Authors:  Elle C Roberson; William E Dowdle; Aysegul Ozanturk; Francesc R Garcia-Gonzalo; Chunmei Li; Jan Halbritter; Nadia Elkhartoufi; Jonathan D Porath; Heidi Cope; Allison Ashley-Koch; Simon Gregory; Sophie Thomas; John A Sayer; Sophie Saunier; Edgar A Otto; Nicholas Katsanis; Erica E Davis; Tania Attié-Bitach; Friedhelm Hildebrandt; Michel R Leroux; Jeremy F Reiter
Journal:  J Cell Biol       Date:  2015-04-13       Impact factor: 10.539

3.  TCTN3 mutations cause Mohr-Majewski syndrome.

Authors:  Sophie Thomas; Marine Legendre; Sophie Saunier; Bettina Bessières; Caroline Alby; Maryse Bonnière; Annick Toutain; Laurence Loeuillet; Katarzyna Szymanska; Frédérique Jossic; Dominique Gaillard; Mohamed Tahar Yacoubi; Soumaya Mougou-Zerelli; Albert David; Marie-Anne Barthez; Yves Ville; Christine Bole-Feysot; Patrick Nitschke; Stanislas Lyonnet; Arnold Munnich; Colin A Johnson; Férechté Encha-Razavi; Valérie Cormier-Daire; Christel Thauvin-Robinet; Michel Vekemans; Tania Attié-Bitach
Journal:  Am J Hum Genet       Date:  2012-08-10       Impact factor: 11.025

4.  Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.

Authors:  J Thevenon; L Duplomb; S Phadke; T Eguether; A Saunier; M Avila; V Carmignac; A-L Bruel; J St-Onge; Y Duffourd; G J Pazour; B Franco; T Attie-Bitach; A Masurel-Paulet; J-B Rivière; V Cormier-Daire; C Philippe; L Faivre; C Thauvin-Robinet
Journal:  Clin Genet       Date:  2016-04-29       Impact factor: 4.438

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.  Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome.

Authors:  Hanan E Shamseldin; Anna Rajab; Amal Alhashem; Ranad Shaheen; Tarfa Al-Shidi; Rana Alamro; Salma Al Harassi; Fowzan S Alkuraya
Journal:  Am J Hum Genet       Date:  2013-08-22       Impact factor: 11.025

Review 7.  Cilia/Ift protein and motor -related bone diseases and mouse models.

Authors:  Xue Yuan; Shuying Yang
Journal:  Front Biosci (Landmark Ed)       Date:  2015-01-01

8.  Craniodentofacial Manifestations in a Rare Syndrome: Orofaciodigital Type IV (Mohr-Majewski Syndrome).

Authors:  Meltem Ozdemir-Karatas; Didem Ozdemir-Ozenen; P Suzanne Hart; Thomas C Hart
Journal:  Case Rep Dent       Date:  2014-12-21

Review 9.  Update on oral-facial-digital syndromes (OFDS).

Authors:  Brunella Franco; Christel Thauvin-Robinet
Journal:  Cilia       Date:  2016-05-02

10.  Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function.

Authors:  Claudio R Cortés; Aideen M McInerney-Leo; Ida Vogel; Maria C Rondón Galeano; Paul J Leo; Jessica E Harris; Lisa K Anderson; Patricia A Keith; Matthew A Brown; Mette Ramsing; Emma L Duncan; Andreas Zankl; Carol Wicking
Journal:  Sci Rep       Date:  2016-04-20       Impact factor: 4.379
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