Detalles de la búsqueda
1.
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.
Genet Med
; 25(1): 49-62, 2023 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36322151
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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34232366
4.
Considerations on the use of carrier screening testing in human reproduction: comparison between recommendations from the Italian Society of Human Genetics and other international societies.
J Assist Reprod Genet
; 39(11): 2581-2593, 2022 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-36370240
5.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-33442900
6.
Prenatal diagnosis of a novel pathogenic variation in the ACAN gene presenting with isolated shortening of fetal long bones in the second trimester of gestation: a case report.
BMC Pregnancy Childbirth
; 21(1): 459, 2021 Jun 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-34187405
7.
Genotype-phenotype correlations in recessive titinopathies.
Genet Med
; 22(12): 2029-2040, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-32778822
8.
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(3): 764-765, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30275510
9.
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(4): 867-876, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30190611
10.
Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes.
Clin Genet
; 96(3): 246-253, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-31090057
11.
Small 4p16.3 deletions: Three additional patients and review of the literature.
Am J Med Genet A
; 176(11): 2501-2508, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30244530
12.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-27683195
13.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-25044788
14.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-23444346
15.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-24124101
16.
Early prenatal diagnosis of a recurrent case of short-rib thoracic dysplasia 3 due to compound heterozygosity for variations in the DYNC2H1 gene: an "ultrasound first" approach.
J Matern Fetal Neonatal Med
; 36(1): 2205985, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-37100787
17.
A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect.
Genes (Basel)
; 14(7)2023 07 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-37510348
18.
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.
Eur J Hum Genet
; 31(2): 202-215, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36434256
19.
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.
Eur J Hum Genet
; 31(11): 1251-1260, 2023 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37644171
20.
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review.
Birth Defects Res
; 114(13): 759-767, 2022 08 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-35716097