Literature DB >> 2407849

Oculocerebrocutaneous syndrome.

L M Bleeker-Wagemakers, B C Hamel, R C Hennekam, F A Beemer, H W Oorthuys.   

Abstract

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Year:  1990        PMID: 2407849      PMCID: PMC1016890          DOI: 10.1136/jmg.27.1.69

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


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  11 in total

1.  [A case of teratoma of the orbit].

Authors:  S BRAUN-VALLON; R JOSEPH; C NEZELOF; M RIBIERRE; J LAGRAULET
Journal:  Bull Soc Ophtalmol Fr       Date:  1958-12

2.  Congenital microphthalmos with cyst formation.

Authors:  J LADENHEIM; S METRICK
Journal:  Am J Ophthalmol       Date:  1956-06       Impact factor: 5.258

3.  Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin.

Authors:  R Happle
Journal:  J Am Acad Dermatol       Date:  1987-04       Impact factor: 11.527

Review 4.  Review and hypotheses: somatic mosaicism: observations related to clinical genetics.

Authors:  J G Hall
Journal:  Am J Hum Genet       Date:  1988-10       Impact factor: 11.025

5.  Congenital cystic eyeball.

Authors:  M A Dollfus; P Marx; J Langlois; J C Clement; J Forthomme
Journal:  Am J Ophthalmol       Date:  1968-09       Impact factor: 5.258

6.  The oculocerebrocutaneous (Delleman) syndrome.

Authors:  L I al-Gazali; D Donnai; S A Berry; B Say; R F Mueller
Journal:  J Med Genet       Date:  1988-11       Impact factor: 6.318

7.  Encephalo-oculo-cutaneous dysplasia.

Authors:  R Walbaum
Journal:  Clin Genet       Date:  1984-11       Impact factor: 4.438

8.  Oculo-cerebro-cutaneous syndrome: description of a new case.

Authors:  P L Giorgi; O Gabrielli; C Catassi; G V Coppa
Journal:  Eur J Pediatr       Date:  1989-01       Impact factor: 3.183

9.  Oculocerebrocutaneous syndrome.

Authors:  R D Wilson; L Traverse; J G Hall; C O Flodmark; J Rootman
Journal:  Am J Ophthalmol       Date:  1985-02-15       Impact factor: 5.258

10.  Encephalocraniocutaneous lipomatosis.

Authors:  M A Fishman; C S Chang; J E Miller
Journal:  Pediatrics       Date:  1978-04       Impact factor: 7.124

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  3 in total

Review 1.  An update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome.

Authors:  Ute Moog; William B Dobyns
Journal:  Am J Med Genet C Semin Med Genet       Date:  2018-12       Impact factor: 3.908

2.  Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype.

Authors:  U Moog; M C Jones; L M Bird; W B Dobyns
Journal:  J Med Genet       Date:  2005-05-06       Impact factor: 6.318

3.  Delleman Oorthuys syndrome.

Authors:  Syed Wajahat A Rizvi; Mohammed Azfar Siddiqui; Adeeb A Khan; Ziya Siddiqui
Journal:  Middle East Afr J Ophthalmol       Date:  2015 Jan-Mar
  3 in total

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