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1.
Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.
J Med Genet;
52(6): 405-12, 2015 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-25755106
2.
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.
Hum Genet;
134(6): 613-26, 2015 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-25805166
3.
A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype.
J Hum Genet;
60(6): 287-93, 2015 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-25809938
4.
3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.
J Med Genet;
51(1): 21-7, 2014 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-24133203
5.
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.
Hum Mutat;
35(7): 841-50, 2014 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-24633898
6.
Trisomy 7 and deletion of the 9p21 locus as novel acquired abnormalities in a case of pediatric biphenotypic acute leukemia.
J Pediatr Hematol Oncol;
34(3): e126-9, 2012 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-22258355
7.
NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series.
Eur J Med Genet;
58(9): 488-91, 2015 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-26193383
8.
Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.
Eur J Hum Genet;
12(1): 16-23, 2004 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-14560308
9.
Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth.
Gene;
536(1): 213-6, 2014 Feb 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-24315824
10.
Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event.
Mol Cytogenet;
6(1): 29, 2013 Aug 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-23915422
11.
20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis.
Gene;
515(2): 339-48, 2013 Feb 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-23262345
12.
Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.
Arch Neurol;
69(3): 322-30, 2012 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-22083797
13.
Detection of the t(11;14)(q13;q32) without CCND1/IGH fusion in a case of acute myeloid leukemia.
Cancer Genet Cytogenet;
195(2): 164-7, 2009 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-19963117
14.
Characterization of a novel Alu-Alu recombination-mediated genomic deletion in the TCIRG1 gene in five osteopetrotic patients.
J Bone Miner Res;
24(1): 162-7, 2009 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-18715141
15.
Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases.
Am J Med Genet A;
140(18): 1944-9, 2006 Sep 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-16906558
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