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Literature DB >> 4211825

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

S D Pena, M H Shokeir.

Abstract

Entities: Disease

Mesh：

Year: 1974 PMID： 4211825 DOI： 10.1111/j.1399-0004.1974.tb01695.x

Source DB: PubMed Journal: Clin Genet ISSN： 0009-9163 Impact factor: 4.438

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20 in total

1. A case of Lenz microphthalmia syndrome.

Authors: F F Ozkinay; C Ozkinay; H Yüksel; A Yenigun; G Sapmaz; O Aksu
Journal: J Med Genet Date: 1997-07 Impact factor: 6.318

2. The Ohdo blepharophimosis syndrome: a third case.

Authors: L G Biesecker
Journal: J Med Genet Date: 1991-02 Impact factor: 6.318

3. 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

4. ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination.

Authors: Laila Shehata; Dimitre R Simeonov; Anja Raams; Lynne Wolfe; Adeline Vanderver; Xueli Li; Yan Huang; Shannon Garner; Cornelius F Boerkoel; Audrey Thurm; Gail E Herman; Cynthia J Tifft; Miao He; Nicolaas G J Jaspers; William A Gahl
Journal: Am J Med Genet A Date: 2014-09-22 Impact factor: 2.802

Review 5. Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease.

Authors: Siobhán Q Gregg; Andria Rasile Robinson; Laura J Niedernhofer
Journal: DNA Repair (Amst) Date: 2011-05-25

6. 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

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

1. A case of Lenz microphthalmia syndrome.

2. The Ohdo blepharophimosis syndrome: a third case.

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

4. ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination.

Review 5. Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease.

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

7. Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies.

8. Pathologic features in two siblings with the Pena-Shokeir I syndrome.

9. Behaviour disorder in monosomy 10qter.

10. Anesthetic management of three pediatric cases with Pena-Shokeir syndrome.