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Scholar Results 1 - 10 of about 101 related to Johnston: Zoom-in comparative genomic hybridisation arrays for the characterisation of variable.... (0.08 sec) 

Zoom-in comparative genomic hybridisation arrays for the characterisation of variable …


JJ Johnston, RL Walker, S Davis, F Facio, JT … - British Medical Journal, 2007 - jmg.bmj.com
Contiguous gene syndromes cause disorders via haploinsufficiency for adjacent
genes. Some contiguous gene syndromes (CGS) have stereotypical breakpoints, but
others have variable breakpoints. In CGS that have variable breakpoints, ...
Cited by 8 - Related articles - All 3 versions

The clinical atlas of Greig cephalopolysyndactyly syndrome


K Balk, LG Biesecker - American journal of medical genetics. Part A, 2008 - interscience.wiley.com
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Cited by 2 - Related articles - BL Direct - All 2 versions

[CITATION] The polydactylies


D Everman - Human Malformations and Related Anomalies
Cited by 3 - Related articles

Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene …


JJ Johnston, I Olivos-Glander, J Turner, K … - American Journal of Medical Genetics Part A, 2003 - interscience.wiley.com
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Cited by 22 - Related articles - BL Direct - All 4 versions

Acro-fronto-facio-nasal dysostosis: Report of a new brazilian family


A Richieri-Costa, ML Guion-Almeida, NAB … - Am J Med Genet, 1992 - interscience.wiley.com
We report on a Brazilian woman with severe mental retardation, facial and
skeletal anomalies characterized by hypertelorism, eye anomalies, broad notched
nasal tip, cleft lip, highly arched palate, camptobrachysyndactyly of ...
Cited by 4 - Related articles - BL Direct - All 3 versions

Phenotype of five patients with Greig syndrome and microdeletion of 7 p 13


PM Kroisel, E Petek, K Wagner - American journal of medical genetics, 2001 - interscience.wiley.com
Here we describe five patients with Greig cephalopolysyndactyly syndrome (GCPS),
including one pair of monozygotic twin boys with a de novo microdeletion
involving the chromosomal band 7p13, where various clinical manifestations, ...
Cited by 14 - Related articles - BL Direct - All 4 versions

[CITATION] The clinical atlas of Greig cephalopolysyndactyly syndrome How to cite this article: Balk K, …


K Balk - American Journal of Medical Genetics Part A, 2008 - Wiley Subscription Services, Inc., A Wiley Company …
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[PDF] Greig cephalopolysyndactyly (GCPS) contiguous gene syndrome in a boy with a 14 Mb …


S Schulz, M Volleth, P Muschke, I Wieland, P … - The Application of Clinical Genetics, 2009 - dovepress.com
© 2008 Schulz et al, publisher and licensee Dove Medical Press Ltd.This is an
Open Access article which permits unrestricted noncommercial use, provided the
original work is properly cited. ... Solveig Schulz 1 Marianne Volleth 1 ...
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Variable phenotype in Greig cephalopolysyndactyly syndrome: Clinical and radiological …


P Debeer, H Peeters, S Driess, L De Smet, K … - American Journal of Medical Genetics, 2003 - interscience.wiley.com
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Cited by 17 - Related articles - BL Direct - All 7 versions

What you can learn from one gene: GLI3

- nih.gov
LG Biesecker - British Medical Journal, 2006 - jmg.bmj.com
Interruption of the GLI3 gene (OMIM 165240) by translocations in 7p13 was
originally described in 1991 in a small series of patients with the Greig
cephalopolysyndactyly syndrome (GCPS, OMIM 175700), 1 which is inherited in ...
Cited by 19 - Related articles - All 11 versions


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