Detalles de la búsqueda
1.
When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population.
Am J Med Genet A
; : e63609, 2024 Mar 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-38532509
2.
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.
J Med Genet
; 58(4): 275-283, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-32581083
3.
Utilization of the 2017 diagnostic criteria for hEDS by the Toronto GoodHope Ehlers-Danlos syndrome clinic: A retrospective review.
Am J Med Genet A
; 182(3): 484-492, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31840928
4.
High Rates of Genetic Diagnosis in Psychiatric Patients with and without Neurodevelopmental Disorders: Toward Improved Genetic Diagnosis in Psychiatric Populations.
Can J Psychiatry
; 65(12): 865-873, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-32495635
5.
The Nose Knows or Does it? Olfactory Reference Syndrome in Patients Presenting for Assessment of Unusual Body Odor.
J Nerv Ment Dis
; 207(3): 145-151, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30720598
6.
Enrichment of pathogenic variants in genes associated with inborn errors of metabolism in psychiatric populations.
Am J Med Genet B Neuropsychiatr Genet
; 180(1): 46-54, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30556376
7.
An adult male with SHANK2 variant with epilepsy and obsessive-compulsive disorder: Expanding the shankopathy phenotypic spectrum.
Clin Genet
; 101(4): 472-473, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-35037239
8.
A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype.
J Med Genet
; 53(8): 523-32, 2016 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-27075013
9.
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Hum Mol Genet
; 23(10): 2752-68, 2014 May 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-24381304
10.
The expanding phenotypic spectrum of female SLC9A6 mutation carriers: a case series and review of the literature.
Hum Genet
; 135(8): 841-50, 2016 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-27142213
11.
Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.
J Hum Genet
; 61(10): 867-872, 2016 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-27305979
12.
Psychiatric disorders in Ehlers-Danlos syndrome are frequent, diverse and strongly associated with pain.
Rheumatol Int
; 36(3): 341-8, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-26433894
13.
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
Hum Mutat
; 36(4): 454-62, 2015 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-25655089
14.
Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature.
Genet Med
; 17(2): 149-57, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25077648
15.
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.
BMC Med Genet
; 16: 41, 2015 Jun 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-26104215
16.
Expanding the clinical spectrum of ocular anomalies in Noonan syndrome: Axenfeld-anomaly in a child with PTPN11 mutation.
Am J Med Genet A
; 167A(2): 403-6, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25425531
17.
Deletion of 15q11.2(BP1-BP2) region: further evidence for lack of phenotypic specificity in a pediatric population.
Am J Med Genet A
; 167A(9): 2098-102, 2015 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-25946043
18.
Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family.
Hum Genet
; 133(8): 975-84, 2014 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-24623383
19.
Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region.
Am J Med Genet A
; 164A(2): 511-5, 2014 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-24311471
20.
PhenoTips: patient phenotyping software for clinical and research use.
Hum Mutat
; 34(8): 1057-65, 2013 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-23636887