Literature DB >> 7783183

Blepharophimosis-mental retardation syndrome and terminal deletion of chromosome 3p.

A Moncla, N Philip, J F Mattei.   

Abstract

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Year:  1995        PMID： 7783183      PMCID： PMC1050331          DOI： 10.1136/jmg.32.3.245-a

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


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  11 in total

1.  The Ohdo blepharophimosis syndrome: a third case.

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

2.  Blepharophimosis, iris coloboma, microgenia, hearing loss, postaxial polydactyly, aplasia of corpus callosum, hydroureter, and developmental delay.

Authors:  I Buntinx; F Majewski
Journal:  Am J Med Genet       Date:  1990-07

3.  Further evidence for the location of the BPES gene at 3q2.

Authors:  C E de Die-Smulders; J J Engelen; J M Donk; J P Fryns
Journal:  J Med Genet       Date:  1991-10       Impact factor: 6.318

4.  A case with blepharophimosis resembling Ohdo syndrome.

Authors:  J A Maat-Kievit; P J Milla; J E Collins; M Baraitser; R M Winter
Journal:  Clin Dysmorphol       Date:  1994-04       Impact factor: 0.816

5.  Unknown syndrome: abnormal facies, hypothyroidism, and severe retardation: a second patient.

Authors:  J P Fryns; P Moerman
Journal:  J Med Genet       Date:  1988-07       Impact factor: 6.318

6.  Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth.

Authors:  J Clayton-Smith; M Krajewska-Walasek; A Fryer; D Donnai
Journal:  Clin Dysmorphol       Date:  1994-04       Impact factor: 0.816

Review 7.  Infant with del(3) (p25-pter): karyotype-phenotype correlation and review of previously reported cases.

Authors:  H Nienhaus; U Mau; K D Zang
Journal:  Am J Med Genet       Date:  1992-11-15

8.  Blepharophimosis, ptosis and mental retardation: further delineation of Ohdo syndrome.

Authors:  A R Melnyk
Journal:  Clin Dysmorphol       Date:  1994-04       Impact factor: 0.816

9.  Molecular genetic analysis of the 3p- syndrome.

Authors:  M E Phipps; F Latif; A Prowse; S J Payne; J Dietz-Band; M Leversha; N A Affara; A T Moore; J Tolmie; A Schinzel
Journal:  Hum Mol Genet       Date:  1994-06       Impact factor: 6.150

Review 10.  Boy with a chromosome del (3)(q12q23) and blepharophimosis syndrome.

Authors:  H Fujita; J Meng; M Kawamura; N Tozuka; F Ishii; N Tanaka
Journal:  Am J Med Genet       Date:  1992-11-01
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  2 in total

1.  Case Report: A Case Report and Literature Review of 3p Deletion Syndrome.

Authors:  Junxian Fu; Ting Wang; Zhuo Fu; Tianxia Li; Xiaomeng Zhang; Jingjing Zhao; Guanglu Yang
Journal:  Front Pediatr       Date:  2021-02-10       Impact factor: 3.418

2.  Unique case reports associated with ovarian failure: necessity of two intact x chromosomes.

Authors:  Lakshmi Rao Kandukuri; Venkata Padmalatha; Murthy Kanakavalli; Raseswari Turlapati; Mangalipally Swapna; Metuku Vidyadhari; Govindaraghavan Saranaya; Kattera Himaja; Mamata Deenadayal; Bipin Kumar Sethi; Prasun Deb; Nalini Gupta; Baidyanath Chakraborthy; Pratibha Nallari; Lalji Singh
Journal:  Case Rep Genet       Date:  2012-04-11
  2 in total

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