Literature DB >> 3089013

Additional eye findings in a girl with the velo-cardio-facial syndrome.

F A Beemer, J J de Nef, J W Delleman, E M Bleeker-Wagemakers, R J Shprintzen.   

Abstract

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Year:  1986        PMID： 3089013     DOI： 10.1002/ajmg.1320240319

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  9 in total

1.  Iris coloboma and a microdeletion of chromosome 22: del(22)(q11.22).

Authors:  D A Morrison; D R FitzPatrick; B W Fleck
Journal:  Br J Ophthalmol       Date:  2002-11       Impact factor: 4.638

2.  Qualitative MRI findings in adults with 22q11 deletion syndrome and schizophrenia.

Authors:  E W Chow; D J Mikulis; R B Zipursky; L E Scutt; R Weksberg; A S Bassett
Journal:  Biol Psychiatry       Date:  1999-11-15       Impact factor: 13.382

3.  Structural brain abnormalities in patients with schizophrenia and 22q11 deletion syndrome.

Authors:  Eva W C Chow; Robert B Zipursky; David J Mikulis; Anne S Bassett
Journal:  Biol Psychiatry       Date:  2002-02-01       Impact factor: 13.382

4.  The velo-cardio-facial (Shprintzen) syndrome. Clinical variability in eight patients.

Authors:  P Meinecke; F A Beemer; A Schinzel; T Kushnick
Journal:  Eur J Pediatr       Date:  1986-12       Impact factor: 3.183

5.  Pulmonary atresia associated with maternal 22q11.2 deletion: possible parent of origin effect in the conotruncal anomaly face syndrome.

Authors:  L H Seaver; J W Pierpont; R P Erickson; R L Donnerstein; S B Cassidy
Journal:  J Med Genet       Date:  1994-11       Impact factor: 6.318

6.  Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2.

Authors:  M Cristina Digilio; Donna M McDonald-McGinn; Carrie Heike; Charles Catania; Bruno Dallapiccola; Bruno Marino; Elaine H Zackai
Journal:  Am J Med Genet A       Date:  2009-12       Impact factor: 2.802

7.  Ocular findings in children with a microdeletion in chromosome 22q11.2.

Authors:  Ingele Casteels; Patricia Casaer; Marc Gewillig; Ann Swillen; Koenraad Devriendt
Journal:  Eur J Pediatr       Date:  2007-08-18       Impact factor: 3.183

8.  Sclerocornea associated with the chromosome 22q11.2 deletion syndrome.

Authors:  Gil Binenbaum; Donna M McDonald-McGinn; Elaine H Zackai; B Michael Walker; Karlene Coleman; Amy M Mach; Margaret Adam; Melanie Manning; Deborah M Alcorn; Carrie Zabel; Dennis R Anderson; Brian J Forbes
Journal:  Am J Med Genet A       Date:  2008-04-01       Impact factor: 2.802

9.  Arvcf Dependent Adherens Junction Stability is Required to Prevent Age-Related Cortical Cataracts.

Authors:  Jessica B Martin; Kenneth Herman; Nathalie S Houssin; Wade Rich; Matthew A Reilly; Timothy F Plageman
Journal:  Front Cell Dev Biol       Date:  2022-07-06
  9 in total

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