Detalhe da pesquisa
1.
A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases.
Hum Reprod
; 38(5): 992-1002, 2023 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36952633
2.
A 22q13.1 duplication in mosaicism including SOX10.
Am J Med Genet A
; 191(12): 2813-2818, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37533297
3.
Netherton syndrome subtypes share IL-17/IL-36 signature with distinct IFN-α and allergic responses.
J Allergy Clin Immunol
; 149(4): 1358-1372, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34543653
4.
Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence.
J Clin Immunol
; 42(3): 559-571, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35000057
5.
Persistent Müllerian duct syndrome associated with genetic defects in the regulatory subunit of myosin phosphatase.
Hum Reprod
; 37(12): 2952-2959, 2022 11 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36331510
6.
BAFF and CD4+ T cells are major survival factors for long-lived splenic plasma cells in a B-cell-depletion context.
Blood
; 131(14): 1545-1555, 2018 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29378696
7.
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.
Am J Hum Genet
; 98(5): 971-980, 2016 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27108797
8.
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.
Am J Hum Genet
; 97(2): 311-8, 2015 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26166481
9.
Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.
Am J Med Genet A
; 176(5): 1091-1098, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29681083
10.
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.
Brain
; 140(10): 2597-2609, 2017 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28969387
11.
No correlation between mtDNA amount and methylation levels at the CpG island of POLG exon 2 in wild-type and mutant human differentiated cells.
J Med Genet
; 54(5): 324-329, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28069933
12.
Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing.
J Allergy Clin Immunol
; 147(2): 734-737, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32531373
13.
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
Am J Hum Genet
; 92(2): 265-70, 2013 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23312594
14.
A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency.
Blood
; 122(23): 3713-22, 2013 Nov 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-24089328
15.
RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability.
Am J Med Genet A
; 167A(8): 1908-12, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25846674
16.
Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla.
Acta Neuropathol Commun
; 11(1): 29, 2023 02 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36803301
17.
Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature.
Birth Defects Res
; 114(10): 499-504, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35426486
18.
Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1.
Eur J Hum Genet
; 30(8): 960-966, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35590056
19.
Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency.
J Clin Invest
; 131(3)2021 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33290277
20.
Heterozygous FGFR1 mutation may be responsible for an incomplete form of osteoglophonic dysplasia, characterized only by radiolucent bone lesions and teeth retentions.
Eur J Med Genet
; 63(2): 103729, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31319224