Detalhe da pesquisa
1.
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit ß-type 10 in six infants with SCID-Omenn syndrome.
Am J Hum Genet
; 111(4): 791-804, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38503300
2.
OTULIN Haploinsufficiency-Related Fasciitis and Skin Necrosis Treated by TNF Inhibition.
J Clin Immunol
; 44(1): 10, 2023 12 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38129331
3.
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.
Genet Med
; 23(7): 1246-1254, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33824500
4.
A review on age-related cancer risks in PTEN hamartoma tumor syndrome.
Clin Genet
; 99(2): 219-225, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33140411
5.
Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency.
Am J Med Genet A
; 185(7): 2204-2210, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33938610
6.
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
Am J Hum Genet
; 100(6): 907-925, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28575647
7.
Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders.
Genet Med
; 21(8): 1719-1725, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30568311
8.
TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.
Hum Mol Genet
; 25(5): 892-902, 2016 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26721934
9.
Clinical delineation of the PACS1-related syndrome--Report on 19 patients.
Am J Med Genet A
; 170(3): 670-5, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26842493
10.
Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.
Am J Hum Genet
; 91(6): 1122-7, 2012 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23159249
11.
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.
Am J Hum Genet
; 91(6): 1073-81, 2012 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23176823
12.
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.
J Med Genet
; 50(12): 802-11, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24123876
13.
Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation.
PLoS Genet
; 7(12): e1002427, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22242004
14.
Exploring the Prevalence of Oral Features for Early Detection of PTEN Hamartoma Tumour Syndrome.
Int Dent J
; 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38697906
15.
Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS).
Cancers (Basel)
; 16(5)2024 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38473316
16.
Clinical significance of de novo and inherited copy-number variation.
Hum Mutat
; 34(12): 1679-87, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24038936
17.
Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome.
J Natl Cancer Inst
; 115(1): 93-103, 2023 01 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36171661
18.
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.
J Med Genet
; 48(6): 390-5, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21378380
19.
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort.
Eur J Med Genet
; 65(12): 104632, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36270489
20.
Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.
Elife
; 112022 Oct 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36250618