Literature DB >> 3585934

Craniofrontonasal dysplasia.

I D Young.   

Abstract

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Year:  1987        PMID： 3585934      PMCID： PMC1049993          DOI： 10.1136/jmg.24.4.193

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


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  10 in total

1.  A family with craniofrontonasal dysplasia, and fragile site 12q13 segregating independently.

Authors:  D Kumar; J W Clark; C E Blank; M A Patton
Journal:  Clin Genet       Date:  1986-06       Impact factor: 4.438

2.  Frontonasal dysplasia with coronal craniosynostosis in three sibs.

Authors:  R Slover; E Sujansky
Journal:  Birth Defects Orig Artic Ser       Date:  1979

3.  Greig cephalopolysyndactyly: report of 13 affected individuals in three families.

Authors:  M Baraitser; R M Winter; E M Brett
Journal:  Clin Genet       Date:  1983-10       Impact factor: 4.438

4.  Craniofrontonasal dysplasia--a distinct entity with lethality in the male?

Authors:  I D Young; J R Moore
Journal:  Clin Genet       Date:  1984-05       Impact factor: 4.438

5.  Radiocephalometric findings in a family with craniofrontonasal dysplasia.

Authors:  S Pruzansky; M Costaras; B R Rollnick
Journal:  Birth Defects Orig Artic Ser       Date:  1982

6.  A pedigree possible evidence for the metabolic interference hypothesis.

Authors:  B Rollnick; D Day; R Tissot; C Kaye
Journal:  Am J Hum Genet       Date:  1981-09       Impact factor: 11.025

7.  Fronto-facio-nasal dysostosis - a new autosomal recessive syndrome.

Authors:  T R Gollop
Journal:  Am J Med Genet       Date:  1981

8.  Craniofrontonasal dysplasia: clinical and genetic analysis.

Authors:  C M Sax; D B Flannery
Journal:  Clin Genet       Date:  1986-06       Impact factor: 4.438

9.  Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: a new syndrome.

Authors:  A Schinzel; W Schmid
Journal:  Am J Med Genet       Date:  1980

Review 10.  Craniosynostosis and syndromes with craniosynostosis: incidence, genetics, penetrance, variability, and new syndrome updating.

Authors:  M M Cohen
Journal:  Birth Defects Orig Artic Ser       Date:  1979
  10 in total
  5 in total

1.  Craniofrontonasal dysplasia.

Authors:  J Hurst; M Baraitser
Journal:  J Med Genet       Date:  1988-02       Impact factor: 6.318

2.  Craniofrontonasal dysplasia: hypertelorism correction in late presenting patients.

Authors:  Cassio Eduardo Raposo-Amaral; Gabriel Resende; Rafael Denadai; Enrico Ghizoni; Cesar Augusto Raposo-Amaral
Journal:  Childs Nerv Syst       Date:  2021-04-16       Impact factor: 1.475

3.  Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.

Authors:  M E P van den Elzen; S R F Twigg; J A C Goos; A J M Hoogeboom; A M W van den Ouweland; A O M Wilkie; I M J Mathijssen
Journal:  Eur J Hum Genet       Date:  2013-11-27       Impact factor: 4.246

4.  A Family with Craniofrontonasal Syndrome and a Mutation (p.G151S) in the EFNB1 Gene: Expanding the Phenotype.

Authors:  Jaime Toral-López; Luz M González-Huerta; Olga Messina Baas; Sergio A Cuevas-Covarrubias
Journal:  Mol Syndromol       Date:  2016-03-19

5.  Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.

Authors:  Stephen R F Twigg; Rui Kan; Christian Babbs; Elena G Bochukova; Stephen P Robertson; Steven A Wall; Gillian M Morriss-Kay; Andrew O M Wilkie
Journal:  Proc Natl Acad Sci U S A       Date:  2004-05-27       Impact factor: 11.205
  5 in total

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