Search details
1.
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
Nat Genet
; 39(7): 875-81, 2007 Jul.
Article
in English
| MEDLINE | ID: mdl-17558409
2.
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.
Hum Mutat
; 28(5): 523-4, 2007 May.
Article
in English
| MEDLINE | ID: mdl-17397051
3.
Functional disomy of the Xq28 chromosome region.
Eur J Hum Genet
; 13(5): 579-85, 2005 May.
Article
in English
| MEDLINE | ID: mdl-15741994
4.
Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties.
Eur J Hum Genet
; 13(9): 1033-9, 2005 Sep.
Article
in English
| MEDLINE | ID: mdl-15915160
5.
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.
Am J Hum Genet
; 80(1): 186-94, 2007 Jan.
Article
in English
| MEDLINE | ID: mdl-17160906
6.
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.
Am J Hum Genet
; 81(1): 170-9, 2007 Jul.
Article
in English
| MEDLINE | ID: mdl-17564974
7.
Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy.
Prenat Diagn
; 26(13): 1201-5, 2006 Dec.
Article
in English
| MEDLINE | ID: mdl-17075794
8.
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.
Am J Hum Genet
; 76(3): 493-504, 2005 Mar.
Article
in English
| MEDLINE | ID: mdl-15666242
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