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1.
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis.
J Med Genet
; 59(2): 170-179, 2022 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-33323470
2.
A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy.
Int J Mol Sci
; 21(20)2020 Oct 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-33076433
3.
Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation.
Am J Med Genet A
; 167A(12): 3130-8, 2015 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-26333487
4.
Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome.
Ital J Pediatr
; 50(1): 67, 2024 Apr 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-38616285
5.
PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol.
Am J Med Genet A
; 161A(11): 2902-8, 2013 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-24123798
6.
New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception.
Ital J Pediatr
; 49(1): 17, 2023 Feb 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-36759911
7.
NFIA haploinsufficiency: case series and literature review.
Front Pediatr
; 11: 1292654, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37915986
8.
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Res Sq
; 2023 Sep 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-37841849
9.
Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene.
Ital J Pediatr
; 48(1): 65, 2022 May 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-35509048
10.
Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles.
Ital J Pediatr
; 48(1): 38, 2022 Mar 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-35246213
11.
Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review.
Mol Genet Genomic Med
; 10(5): e1911, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35348308
12.
Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder.
Ital J Pediatr
; 48(1): 132, 2022 Jul 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-35906647
13.
Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene.
Ital J Pediatr
; 48(1): 133, 2022 Jul 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-35906671
14.
Recurrent missense variant in the nuclear export signal of FMR1 associated with FXS-like phenotype including intellectual disability, ASD, facial abnormalities.
Eur J Med Genet
; 65(3): 104441, 2022 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-35091116
15.
Hypertrophic pyloric stenosis masked by kidney failure in a male infant with a contiguous gene deletion syndrome at Xp22.31 involving the steroid sulfatase gene: case report.
Ital J Pediatr
; 48(1): 19, 2022 Feb 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-35115028
16.
A complex epileptic and dysmorphic phenotype associated with a novel frameshift KDM5B variant and deletion of SCN gene cluster.
Seizure
; 97: 20-22, 2022 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-35278764
17.
A novel NF1 mutation in a pediatric patient with renal artery aneurysm.
Ital J Pediatr
; 48(1): 186, 2022 Nov 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-36411470
18.
Clinical and genetic approach in the characterization of newborns with anorectal malformation.
J Matern Fetal Neonatal Med
; 35(23): 4513-4520, 2022 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-36062518
19.
Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome.
Ital J Pediatr
; 48(1): 170, 2022 Sep 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-36076277
20.
Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of the AMER1 gene.
Ital J Pediatr
; 48(1): 206, 2022 Dec 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-36581928