Detalhe da pesquisa
1.
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
Cell
; 142(2): 203-17, 2010 Jul 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-20637498
2.
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.
Hum Genet
; 143(5): 649-666, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38538918
3.
Precision oncology in neurofibromatosis type 1: quantification of differential sensitivity to selumetinib in plexiform neurofibromas using single-cell RNA sequencing.
J Neurooncol
; 2024 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38739187
4.
Characterizing T-cell dysfunction and exclusion signatures in malignant peripheral nerve sheath tumors reveals susceptibilities to immunotherapy.
J Neurooncol
; 164(3): 693-699, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37755632
5.
SPECC1L regulates palate development downstream of IRF6.
Hum Mol Genet
; 29(5): 845-858, 2020 03 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31943082
6.
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.
Genet Med
; 24(9): 1967-1977, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35674741
7.
Neurofibromatosis 1 in the setting of dual diagnosis: Diagnostic and management conundrums.
Am J Med Genet A
; 188(3): 911-918, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34797032
8.
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.
Am J Med Genet A
; 188(9): 2750-2759, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35543142
9.
WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins.
Hum Genet
; 140(12): 1775-1789, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34642815
10.
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.
Genet Med
; 23(8): 1506-1513, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34012067
11.
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.
Am J Med Genet A
; 185(8): 2417-2433, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34042254
12.
Audit of Gastrointestinal Manifestations in Patients with Loeys-Dietz Syndrome and Vascular Ehlers-Danlos Syndrome.
Dig Dis Sci
; 66(4): 1142-1152, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32306189
13.
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Hum Mutat
; 41(1): 299-315, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31595648
14.
Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Genet Med
; 22(11): 1920, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32814847
15.
Bilateral pheochromocytoma: Clinical characteristics, treatment and longitudinal follow-up.
Clin Endocrinol (Oxf)
; 93(3): 288-295, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32410303
16.
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Genet Med
; 21(4): 850-860, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30245513
17.
Pheochromocytoma and paraganglioma in patients with neurofibromatosis type 1.
Clin Endocrinol (Oxf)
; 86(1): 141-149, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27460956
18.
Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines.
J Med Genet
; 53(2): 123-6, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26337637
19.
Cryptogenic Cirrhosis and Sitosterolemia: A Treatable Disease If Identified but Fatal If Missed.
Ann Hepatol
; 16(6): 970-978, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29055934
20.
An association of peripheral nerve sheath tumors and lipomas.
Acta Neurochir (Wien)
; 159(1): 185-190, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27900489