Literature DB >> 7241531

Syndromes of microcephaly, microphthalmia, cataracts, and joint contractures.

R M Winter, D Donnai, M D Crawfurd.   

Abstract

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Mesh：

Year:  1981        PMID： 7241531      PMCID： PMC1048685          DOI： 10.1136/jmg.18.2.129

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


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  13 in total

1.  [Fatal syndrome of multiple malformations in 3 siblings].

Authors:  V Povýsilová; M Macek; J Salichová; E Seemanová
Journal:  Cesk Pediatr       Date:  1976-04

2.  The cerebro-oculo-facio-skeletal syndrome.

Authors:  R B Surana; J R Fraga; S M Sinkford
Journal:  Clin Genet       Date:  1978-06       Impact factor: 4.438

3.  A further example of a lethal autosomal recessive condition in sibs.

Authors:  R Laxova; P T Ohara; J A Timothy
Journal:  J Ment Defic Res       Date:  1972-06

4.  A lethal syndrome of microcephaly with multiple congenital anomalies in three siblings.

Authors:  R L Neu; T Kajii; L I Gardner; S F Nagyfy
Journal:  Pediatrics       Date:  1971-03       Impact factor: 7.124

5.  Cataracts, microcephaly, kyphosis, and limited joint movement in two siblings: a new syndrome.

Authors:  R B Lowry; R MacLean; D M McLean; B Tischler
Journal:  J Pediatr       Date:  1971-08       Impact factor: 4.406

6.  The cerebro-oculo-facio-skeletal syndrome.

Authors:  M Preus; F C Fraser
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

7.  Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome.

Authors:  S D Pena; M H Shokeir
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

8.  Brief clinical observations: the Neu-Laxova syndrome--a distinct entity.

Authors:  G I Lazjuk; I W Lurie; T I Ostrowskaja; E D Cherstvoy; I A Kirillova; M K Nedzved; S S Usoev
Journal:  Am J Med Genet       Date:  1979

9.  A syndrome of microcephaly and cataracts in four siblings. A new genetic syndrome?

Authors:  A B Scott-Emuakpor; J Heffelfinger; J V Higgins
Journal:  Am J Dis Child       Date:  1977-02

10.  Renal anomalies and oligohydramnios in the cerebro-oculofacio-skeletal syndrome.

Authors:  M Preus; P Kaplan; T H Kirkham
Journal:  Am J Dis Child       Date:  1977-01
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  4 in total

1.  Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.

Authors:  J M Graham ; K Anyane-Yeboa; A Raams; E Appeldoorn; W J Kleijer; V H Garritsen; D Busch; T G Edersheim; N G Jaspers
Journal:  Am J Hum Genet       Date:  2001-07-03       Impact factor: 11.025

2.  Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.

Authors:  L B Meira; J M Graham; C R Greenberg; D B Busch; A T Doughty; D W Ziffer; D M Coleman; I Savre-Train; E C Friedberg
Journal:  Am J Hum Genet       Date:  2000-03-15       Impact factor: 11.025

3.  Xeroderma pigmentosum--Cockayne syndrome complex: a further case.

Authors:  B C Hamel; A Raams; A R Schuitema-Dijkstra; P Simons; I van der Burgt; N G Jaspers; W J Kleijer
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318

4.  Role of rapid antibody and ELISA tests in the evaluation of serological response in patients with SARS-CoV-2 PCR positivity.

Authors:  Yasemin Cosgun; Ayse Basak Altas; Esra Akkan Kuzucu; Rahmet Guner; Sebnem Erdinc; Fatma Eser; Esra Kaya Kilic; Gulay Korukluoglu
Journal:  Folia Microbiol (Praha)       Date:  2021-04-07       Impact factor: 2.099
  4 in total

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