Search details
1.
Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.
Hum Mutat
; 35(9): 1092-100, 2014 Sep.
Article
in English
| MEDLINE | ID: mdl-24924640
2.
Identification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagnostic pathway.
Eur J Hum Genet
; 32(5): 529-538, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38355963
3.
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.
Am J Hum Genet
; 87(2): 189-98, 2010 Aug 13.
Article
in English
| MEDLINE | ID: mdl-20673863
4.
The face in congenital melanocytic nevus syndrome.
Am J Med Genet A
; 158A(5): 1014-9, 2012 May.
Article
in English
| MEDLINE | ID: mdl-22438093
5.
Phenotype and natural history in Marshall-Smith syndrome.
Am J Med Genet A
; 152A(11): 2714-26, 2010 Nov.
Article
in English
| MEDLINE | ID: mdl-20949508
6.
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
Eur J Med Genet
; 58(5): 279-92, 2015 May.
Article
in English
| MEDLINE | ID: mdl-25792522
7.
Interpreting humanity's genes.
Eur J Med Genet
; 52(6): 379-80, 2009.
Article
in English
| MEDLINE | ID: mdl-19679203
8.
Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.
J Hum Genet
; 50(1): 21-25, 2005.
Article
in English
| MEDLINE | ID: mdl-15690106
9.
Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome.
Hum Genet
; 111(4-5): 421-7, 2002 Oct.
Article
in English
| MEDLINE | ID: mdl-12384786
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