Detalhe da pesquisa
1.
Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.
Am J Med Genet A
; 185(4): 1204-1210, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33442900
2.
A Novel KCNN2 Variant in a Family with Essential Tremor Plus: Clinical Characteristics and In Silico Analysis.
Genes (Basel)
; 14(7)2023 06 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37510285
3.
Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate.
Mol Genet Genomic Med
; 8(1): e1056, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31851782
4.
Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes.
Am J Med Genet A
; 146A(2): 238-44, 2008 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18080328
5.
Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum.
Hum Mutat
; 28(1): 98, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17154281
6.
Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family.
Eur J Hum Genet
; 12(7): 579-83, 2004 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15083169
7.
Fluorescence in situ hybridization analysis of allelic losses involving the long arm of chromosome 17 in NF1-associated neurofibromas.
Cancer Genet Cytogenet
; 150(2): 168-72, 2004 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15066327
8.
Characterization of the first adult de novo case of 46,X,der(Y)t(X;Y)(p22.3;q11.2).
Gene
; 513(1): 111-7, 2013 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23124038
9.
A lymphotactin-producing monoclonal T-cell lymphoproliferative disorder with extreme lymphocytopenia and progressive leukoencephalopathy.
Leuk Lymphoma
; 47(7): 1421-3, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16923584
10.
Duplication 18q21.31-q22.2.
Am J Med Genet A
; 143(4): 343-8, 2007 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17256793
11.
Reproductive history of a healthy woman with mosaic duplication of chromosome 4p.
Prenat Diagn
; 25(4): 283-5, 2005 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15849782
12.
Leiomyosarcoma of the larynx: case report with pathologic and surgical considerations.
J Otolaryngol
; 31(6): 393-6, 2002 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-12593555