Detalhe da pesquisa
1.
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.
Clin Genet
; 100(3): 268-279, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33988253
2.
Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6.
Clin Genet
; 97(4): 649-654, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31846058
3.
ALG12-CDG: novel glycophenotype insights endorse the molecular defect.
Glycoconj J
; 36(6): 461-472, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31529350
4.
Consensus Document of the Italian Association of Hospital Cardiologists (ANMCO), Italian Society of Pediatric Cardiology (SICP), and Italian Society of Gynaecologists and Obstetrics (SIGO): pregnancy and congenital heart diseases.
Eur Heart J Suppl
; 19(Suppl D): D256-D292, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28751846
5.
Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel â¼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.
Birth Defects Res A Clin Mol Teratol
; 106(1): 61-8, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26663529
6.
[Updating of the prevalence of congenital anomalies among resident births in the Municipality of Gela (Southern Italy)]. / Aggiornamento della prevalenza di anomalie congenite tra i nati residenti nel Comune di Gela.
Epidemiol Prev
; 38(3-4): 219-26, 2014.
Artigo
em Italiano
| MEDLINE | ID: mdl-25115474
7.
Intragenic ILRAPL1 deletion in a male patient with intellectual disability, mild dysmorphic signs, deafness, and behavioral problems.
Am J Med Genet A
; 161A(6): 1381-5, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23613341
8.
Further evidence of no association between spinal muscular atrophy and increased nuchal translucency.
Fetal Diagn Ther
; 33(1): 65-8, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23147083
9.
Human parechovirus meningitis in children: state of the art.
Ital J Pediatr
; 49(1): 144, 2023 Oct 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37880789
10.
Mutational Analysis of BRCA1 and BRCA2 Genes in Breast Cancer Patients from Eastern Sicily.
Cancer Manag Res
; 14: 1341-1352, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35411189
11.
Prenatal diagnosis of 45,X/46,XY mosaicism with cleft lip and epispadias.
Arch Gynecol Obstet
; 284(2): 509-11, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21594604
12.
An additional clinical sign of 17q21.31 microdeletion syndrome: preaxial polydactyly of hands with broad thumbs.
Am J Med Genet A
; 167(7): 1671-3, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25858762
13.
Ten new cases of Balanced Reciprocal Translocation Mosaicism (BRTM): Reproductive implications, frequency and mechanism.
Eur J Med Genet
; 63(2): 103639, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30858057
14.
Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence).
Orphanet J Rare Dis
; 15(1): 201, 2020 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32758259
15.
[ANMCO/SICP/SIGO Consensus document: Pregnancy and congenital heart disease]. / Documento di consenso ANMCO/SICP/SIGO: Gravidanza e cardiopatie congenite.
G Ital Cardiol (Rome)
; 17(9): 687-755, 2016 Sep.
Artigo
em Italiano
| MEDLINE | ID: mdl-27869889
16.
Prenatal diagnosis of a fetus with anencephaly and thumb agenesis.
Congenit Anom (Kyoto)
; 52(1): 64-5, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22348786
17.
No association between apolipoprotein E polymorphisms and recurrent pregnancy loss.
Fertil Steril
; 93(1): 276, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19732892
18.
Craniorachischisis and heterotaxia with heart disease in twins: link or change nature?
Congenit Heart Dis
; 5(5): 450-3, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-21087431
19.
15q11.2 microdeletion and hypoplastic left heart syndrome.
Eur J Med Genet
; 58(11): 608-10, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26433000
20.
Novel c.358C>T mutation of SOX9 gene in prenatal diagnosis of campomelic dysplasia.
Congenit Anom (Kyoto)
; 54(3): 193-4, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24451061