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1.
High-resolution chromosomal microarray analysis for copy-number variations in high-functioning autism reveals large aberration typical for intellectual disability.
J Neural Transm (Vienna)
; 127(1): 81-94, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31838600
2.
Rare copy number variants in individuals at clinical high risk for psychosis: Enrichment of synaptic/brain-related functional pathways.
Am J Med Genet B Neuropsychiatr Genet
; 183(2): 140-151, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31742845
3.
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
4.
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.
J Med Genet
; 52(12): 804-14, 2015 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-26424144
5.
The clinical significance of small copy number variants in neurodevelopmental disorders.
J Med Genet
; 51(10): 677-88, 2014 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-25106414
6.
A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes.
Am J Med Genet A
; 164A(5): 1277-83, 2014 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-24664804
7.
High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power.
Prenat Diagn
; 34(6): 525-33, 2014 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-24919595
8.
Contribution of CYP2B6 alleles in explaining extreme (S)-methadone plasma levels: a CYP2B6 gene resequencing study.
Pharmacogenet Genomics
; 23(2): 84-93, 2013 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-23249875
9.
Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria.
Am J Med Genet A
; 161A(8): 1853-9, 2013 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-23794250
10.
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
11.
Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay.
Eur J Med Genet
; 66(1): 104669, 2023 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-36379434
12.
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
13.
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
14.
A Xp22.11-p21.3 microdeletion in a three-generation family supports male lethality of POLA1 nullisomy resulting in reduced fertility of female carriers.
Eur J Med Genet
; 65(12): 104628, 2022 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-36182037
15.
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
NPJ Genom Med
; 7(1): 45, 2022 Jul 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-35906228
16.
Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia-telangiectasia mutated gene).
Mol Genet Genomic Med
; 8(10): e1409, 2020 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32748564
17.
Genome-wide non-invasive prenatal testing in single- and multiple-pregnancies at any risk: Identification of maternal polymorphisms to reduce the number of unnecessary invasive confirmation testing.
Eur J Obstet Gynecol Reprod Biol
; 252: 19-29, 2020 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-32619881
18.
The P450 oxidoreductase genotype is associated with CYP3A activity in vivo as measured by the midazolam phenotyping test.
Pharmacogenet Genomics
; 19(11): 877-83, 2009 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-19801957
19.
ABCB1 and cytochrome P450 polymorphisms: clinical pharmacogenetics of clozapine.
J Clin Psychopharmacol
; 29(4): 319-26, 2009 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-19593168
20.
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Eur J Hum Genet
; 27(3): 408-421, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30552426