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Literature DB >> 8521157

Four cases of "retinitis pigmentosa" occurring in the same family, and accompanied by general imperfections of development. 1866.

J Z Laurence, R C Moon.

Abstract

Entities: Disease

Mesh：

Year: 1995 PMID： 8521157 DOI： 10.1002/j.1550-8528.1995.tb00166.x

Source DB: PubMed Journal: Obes Res ISSN： 1071-7323

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28 in total

1. [Enchondral dysostosis with adiposogenital syndrome as the leading symptom: demonstrated by a case of Laurence-Moon-Bardet-Biedl syndrome].

Authors: G NEUMANN; G THOMAS
Journal: Arch Orthop Unfallchir Date: 1961

2. A patient with features of both Bardet-Biedl and Alström syndromes.

Authors: C Hauser; C Rojas; A Roth; E Schmied; J H Saurat
Journal: Eur J Pediatr Date: 1990-08 Impact factor: 3.183

3. Bardet-Biedl syndrome.

Authors: Elizabeth Forsythe; Philip L Beales
Journal: Eur J Hum Genet Date: 2012-06-20 Impact factor: 4.246

4. Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study.

Authors: Susan J Moore; Jane S Green; Yanli Fan; Ashvinder K Bhogal; Elizabeth Dicks; Bridget A Fernandez; Mark Stefanelli; Christopher Murphy; Benvon C Cramer; John C S Dean; Philip L Beales; Nicholas Katsanis; Anne S Bassett; William S Davidson; Patrick S Parfrey
Journal: Am J Med Genet A Date: 2005-02-01 Impact factor: 2.802

Four cases of "retinitis pigmentosa" occurring in the same family, and accompanied by general imperfections of development. 1866.

1. [Enchondral dysostosis with adiposogenital syndrome as the leading symptom: demonstrated by a case of Laurence-Moon-Bardet-Biedl syndrome].

2. A patient with features of both Bardet-Biedl and Alström syndromes.

3. Bardet-Biedl syndrome.

4. Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study.

5. Bardet Biedl Syndrome - A Report of Two Cases with Otolaryngologic Symptoms.

6. [Monogenic and syndromic symptoms of morbid obesity. Rare but important].

7. Spot Diagnosis of a Daedalian Genetic Disorder: Bardet-Biedl Syndrome.

8. Laurence-Moon-Biedl syndrome in presumably identical twins.

9. Early diagnosis of Bardet-Biedl syndrome.

10. Bardet-Biedl syndrome: multiple fingers with multiple defects!