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1.
Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.
Am J Hum Genet
; 111(6): 1184-1205, 2024 Jun 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-38744284
2.
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.
Am J Hum Genet
; 110(4): 681-690, 2023 04 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36996813
3.
A very mild phenotype in six individuals of a three-generation family with the novel HRAS variant c.176C > G p.(Ala59Gly): Emergence of a new HRAS-related RASopathy distinct from Costello syndrome.
Am J Med Genet A
; 191(8): 2074-2082, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37194190
4.
Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.
Clin Genet
; 102(3): 182-190, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-35662002
5.
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.
Genet Med
; 23(8): 1474-1483, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-33941880
6.
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.
Genet Med
; 23(3): 543-554, 2021 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33149277
7.
Confirmation of Ogden syndrome as an X-linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature.
Am J Med Genet A
; 185(8): 2546-2560, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-34075687
8.
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.
Mol Med
; 25(1): 6, 2019 02 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-30813884
9.
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.
Genet Med
; 21(9): 2043-2058, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-30842647
10.
Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.
Brain
; 141(7): 1934-1945, 2018 07 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29868776
11.
Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?
Prenat Diagn
; 39(12): 1136-1147, 2019 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31498910
12.
Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome.
Hum Mutat
; 39(7): 959-964, 2018 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-29737001
13.
Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy.
J Med Genet
; 54(12): 809-814, 2017 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-28391250
14.
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.
Am J Hum Genet
; 90(3): 565-72, 2012 Mar 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-22405089
15.
Historic characteristics and mortality of patients in the Swiss Amyloidosis Registry.
Swiss Med Wkly
; 154: 3485, 2024 Feb 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-38579306
16.
Biallelic SEMA3A defects cause a novel type of syndromic short stature.
Am J Med Genet A
; 161A(11): 2880-9, 2013 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-24124006
17.
The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies.
Mol Genet Genomic Med
; 11(5): e2148, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36785910
18.
The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort.
Eur J Hum Genet
; 31(7): 784-792, 2023 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-37012328
19.
CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.
Am J Hum Genet
; 85(5): 655-66, 2009 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-19896112
20.
The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B.
Am J Med Genet A
; 173(5): 1440-1443, 2017 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-28323383