Literature DB >> 6842538

A female infant with features of Mohr and Majewski syndromes: variable expression, a genetic compound, or a distinct entity?

M Baraitser, J Burn, J Fixsen.   

Abstract

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Year:  1983        PMID： 6842538      PMCID： PMC1048990          DOI： 10.1136/jmg.20.1.65

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


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  3 in total

1.  Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan.

Authors:  J Spranger; B Grimm; M Weller; G Weissenbacher; J Herrmann; E Gilbert; R Krepler
Journal:  Z Kinderheilkd       Date:  1974-01-17

2.  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

3.  Parental consanguinity and the Majewski syndrome.

Authors:  I L Black; J Fitzsimmons; E Fitzsimmons; A J Thomas
Journal:  J Med Genet       Date:  1982-04       Impact factor: 6.318
  3 in total
  10 in total

1.  Orofacial-Digital Syndrome Type IV.

Authors:  Sheila Samanta Mathai; Ayappabeth Rajeev; Satyajit Sahu
Journal:  Indian J Pediatr       Date:  2011-03-22       Impact factor: 1.967

2.  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

Review 3.  Malformation syndromes: a review of mouse/human homology.

Authors:  R M Winter
Journal:  J Med Genet       Date:  1988-07       Impact factor: 6.318

4.  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

5.  Syndrome of polydactyly, cleft lip, lingual hamartomas, renal hypoplasia, hearing loss, and psychomotor retardation: variant of the Mohr syndrome or a new syndrome?

Authors:  J F Mattei; S Aymé
Journal:  J Med Genet       Date:  1983-12       Impact factor: 6.318

6.  Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies.

Authors:  P Meinecke; H Hayek
Journal:  J Med Genet       Date:  1990-03       Impact factor: 6.318

Review 7.  Skeletal ciliopathies: a pattern recognition approach.

Authors:  Atsuhiko Handa; Ulrika Voss; Anna Hammarsjö; Giedre Grigelioniene; Gen Nishimura
Journal:  Jpn J Radiol       Date:  2020-01-21       Impact factor: 2.374

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

Authors:  E Sukarova-Angelovska; N Angelkova; S Palcevska-Kocevska; M Kocova
Journal:  Balkan J Med Genet       Date:  2012-06       Impact factor: 0.519

9.  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

10.  Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome.

Authors:  Ivan Duran; S Paige Taylor; Wenjuan Zhang; Jorge Martin; Kimberly N Forlenza; Rhonda P Spiro; Deborah A Nickerson; Michael Bamshad; Daniel H Cohn; Deborah Krakow
Journal:  Sci Rep       Date:  2016-09-26       Impact factor: 4.379
  10 in total

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