Detalhe da pesquisa
1.
Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1.
J Endocrinol Invest
; 39(2): 227-33, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26100530
2.
MODY type 2 P59S GCK mutant: founder effect in South of Italy.
Clin Genet
; 83(1): 83-7, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22335469
3.
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features.
J Med Genet
; 49(2): 104-9, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22180640
4.
Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine.
Nat Genet
; 6(4): 420-5, 1994 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-8054986
5.
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.
Nat Genet
; 27(2): 159-66, 2001 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-11175783
6.
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
Nat Genet
; 26(1): 103-5, 2000 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-10973259
7.
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.
Nat Genet
; 23(1): 52-7, 1999 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-10471498
8.
Multiple spinal ganglioneuromas in a patient harboring a pathogenic NF1 mutation.
Clin Genet
; 77(3): 293-7, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19863548
9.
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.
J Med Genet
; 44(12): 750-62, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17766364
10.
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.
Nat Genet
; 23(1): 16-8, 1999 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-10471490
11.
Cord blood in vitro expanded CD41 cells: identification of novel components of megakaryocytopoiesis.
J Thromb Haemost
; 4(4): 848-60, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16634756
12.
Is Hardikar syndrome distinct from Kabuki (Niikawa-Kuroki) syndrome?
Clin Genet
; 80(5): 493-6, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22243360
13.
New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.
J Med Genet
; 42(1): 58-68, 2005 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-15635077
14.
Transforming growth factor-beta1 gene polymorphism, bone turnover, and bone mass in Italian postmenopausal women.
J Bone Miner Res
; 15(4): 634-9, 2000 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-10780855
15.
Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
Hum Mutat
; 18(6): 548, 2001 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-11748854
16.
Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
Hum Mutat
; 20(1): 77-8, 2002 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-12112665
17.
Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.
Hum Mutat
; 20(4): 260-6, 2002 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-12325021
18.
Linkage analysis in two large Italian pedigrees affected with nail patella syndrome.
Eur J Hum Genet
; 6(4): 345-9, 1998.
Artigo
em Inglês
| MEDLINE | ID: mdl-9781042
19.
High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG.
Eur J Hum Genet
; 8(1): 19-23, 2000 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-10713883
20.
Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations.
Eur J Hum Genet
; 7(8): 937-40, 1999 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-10602371