Detalhe da pesquisa
1.
G protein-coupled receptor (GPCR) gene variants and human genetic disease.
Crit Rev Clin Lab Sci
; : 1-30, 2024 Mar 18.
Artigo
Inglês
| MEDLINE | ID: mdl-38497103
2.
UK clinical and community psychology: Exploring personal and professional connections.
J Community Psychol
; 50(7): 2904-2922, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35106772
3.
Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.
Am J Hum Genet
; 103(4): 602-611, 2018 10 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30269814
4.
Antiseizure effects of the cannabinoids in the amygdala-kindling model.
Epilepsia
; 62(9): 2274-2282, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34251027
5.
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.
Hum Mutat
; 37(8): 737-44, 2016 08.
Artigo
Inglês
| MEDLINE | ID: mdl-27120253
6.
Variation in the Serotonin Transporter Gene and Alcoholism: Risk and Response to Pharmacotherapy.
Alcohol Alcohol
; 51(2): 164-71, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26311211
7.
Neurogenetic Aspects of Hyperphosphatasia in Mabry Syndrome.
Subcell Biochem
; 76: 343-61, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-26219719
8.
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.
Am J Hum Genet
; 91(1): 146-51, 2012 Jul 13.
Artigo
Inglês
| MEDLINE | ID: mdl-22683086
9.
50 Years Ago in TheJournal ofPediatrics: Familial Hyperphosphatasia with Mental Retardation, Seizures, and Neurologic Deficits.
J Pediatr
; 222: 97, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32586537
10.
Innovations in Phenotyping and Diagnostics Create Opportunities for Improved Treatment and Genetic Counseling for Rare Diseases.
Genes (Basel)
; 15(6)2024 May 31.
Artigo
Inglês
| MEDLINE | ID: mdl-38927651
11.
Rare Genetic Developmental Disabilities: Mabry Syndrome (MIM 239300) Index Cases and Glycophosphatidylinositol (GPI) Disorders.
Genes (Basel)
; 15(5)2024 05 14.
Artigo
Inglês
| MEDLINE | ID: mdl-38790248
12.
Excluding Digenic Inheritance of PGAP2 and PGAP3 Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with PGAP2 Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3).
Genes (Basel)
; 14(2)2023 01 30.
Artigo
Inglês
| MEDLINE | ID: mdl-36833286
13.
Health professionals' perspectives on psychological distress and meeting patients' support needs in rheumatology care settings: A qualitative study.
Musculoskeletal Care
; 21(2): 537-544, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36631956
14.
Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).
Am J Med Genet A
; 158A(3): 553-8, 2012 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-22315194
15.
The patient-provider relationship in chronic pain.
Curr Pain Headache Rep
; 16(2): 133-8, 2012 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-22274663
16.
Student mental health in higher education: the contextual influence of "cuts, competition & comparison".
Br J Educ Psychol
; 92(2): e12461, 2022 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-34662927
17.
Recessive PIGN Mutations in Fryns Syndrome: Evidence for Genetic Heterogeneity.
Hum Mutat
; 37(7): 621, 2016 07.
Artigo
Inglês
| MEDLINE | ID: mdl-27300081
18.
Acceptance and related processes in adjustment to chronic pain.
Curr Pain Headache Rep
; 15(2): 144-51, 2011 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-21222244
19.
Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome.
Am J Med Genet A
; 152A(7): 1661-9, 2010 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-20578257
20.
Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes.
Orphanet J Rare Dis
; 15(1): 40, 2020 02 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32019583