Detalhe da pesquisa
1.
An atypical Aymé-Gripp phenotype detected by exome sequencing.
Am J Med Genet A
; 194(1): 70-76, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-37712597
2.
Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II.
Int J Mol Sci
; 24(15)2023 Jul 31.
Artigo
Inglês
| MEDLINE | ID: mdl-37569667
3.
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.
Eur J Pediatr
; 181(1): 171-187, 2022 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-34232366
4.
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry.
J Public Health (Oxf)
; 44(3): 586-594, 2022 08 25.
Artigo
Inglês
| MEDLINE | ID: mdl-33982102
5.
The Heart Muscle and Valve Involvement in Marfan Syndrome, Loeys-Dietz Syndromes, and Collagenopathies.
Heart Fail Clin
; 18(1): 165-175, 2022 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-34776077
6.
Diagnosis and Management of Cardiovascular Involvement in Friedreich Ataxia.
Heart Fail Clin
; 18(1): 31-37, 2022 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-34776081
7.
Cardiovascular Involvement in mtDNA Disease: Diagnosis, Management, and Therapeutic Options.
Heart Fail Clin
; 18(1): 51-60, 2022 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-34776083
8.
Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes.
Clin Genet
; 96(3): 246-253, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31090057
9.
Small 4p16.3 deletions: Three additional patients and review of the literature.
Am J Med Genet A
; 176(11): 2501-2508, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30244530
10.
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.
Genet Med
; 19(6): 691-700, 2017 06.
Artigo
Inglês
| MEDLINE | ID: mdl-27831545
11.
First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation.
Am J Med Genet A
; 173(1): 231-238, 2017 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-27683195
12.
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.
Hum Mutat
; 35(7): 841-50, 2014 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-24633898
13.
Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.
BMC Med Genet
; 15: 122, 2014 Nov 06.
Artigo
Inglês
| MEDLINE | ID: mdl-25373504
14.
Intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjects.
BMC Med Genet
; 15: 1, 2014 Jan 02.
Artigo
Inglês
| MEDLINE | ID: mdl-24383682
15.
Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation.
Am J Med Genet A
; 164A(10): 2627-32, 2014 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-25044788
16.
Prenatal diagnosis and epidemiology of multicystic kidney dysplasia in Europe.
Prenat Diagn
; 34(11): 1093-8, 2014 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-24916896
17.
Molecular analysis of holoprosencephaly in South America.
Genet Mol Biol
; 37(1 Suppl): 250-62, 2014 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-24764759
18.
Genetic Drift: the Salernitan school of medicine: women, men, and children. A syndromological review of the oldest medical school in the western world.
Am J Med Genet A
; 161A(4): 809-16, 2013 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23444346
19.
Science, art, and mistery in the statues and in the anatomical machines of the prince of sansevero: the masterpieces of the "Sansevero Chapel".
Am J Med Genet A
; 161A(11): 2920-9, 2013 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-24124101
20.
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.
J Med Genet
; 49(4): 227-33, 2012 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-22499340