Detalhe da pesquisa
1.
OnkoRiskNET: a multicenter, interdisciplinary, telemedicine-based model to improve care for patients with a genetic tumor risk syndrome.
BMC Health Serv Res
; 22(1): 805, 2022 Jun 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35729592
2.
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.
Am J Hum Genet
; 103(5): 817-825, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30401461
3.
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis.
Hum Genet
; 139(11): 1443-1454, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32514796
4.
De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia.
Clin Genet
; 98(4): 374-378, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32627184
5.
Looking for the hidden mutation: Bannayan-Riley-Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A.
Am J Med Genet A
; 179(7): 1383-1389, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31062505
6.
A tandem duplication of BRCA1 exons 1-19 through DHX8 exon 2 in four families with hereditary breast and ovarian cancer syndrome.
Breast Cancer Res Treat
; 172(3): 561-569, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30191368
7.
Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.
Hum Mol Genet
; 19(5): 790-802, 2010 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19995790
8.
Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management.
Breast Cancer Res Treat
; 134(3): 1229-39, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22535016
9.
Consensus Recommendations of the German Consortium for Hereditary Breast and Ovarian Cancer.
Breast Care (Basel)
; 17(2): 199-207, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35702495
10.
Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation.
Hum Mutat
; 32(6): E2134-47, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21618341
11.
Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1.
Neurol Genet
; 7(6): e631, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34703884
12.
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.
Hum Mutat
; 31(8): E1587-93, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20648631
13.
From a variant of unknown significance to pathogenic: Reclassification of a large novel duplication in BRCA2 by high-throughput sequencing.
Mol Genet Genomic Med
; 8(9): e1045, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31724318
14.
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
J Med Genet
; 44(2): 131-5, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17056636
15.
12q14 microdeletion syndrome: A family with short stature and Silver-Russell syndrome (SRS)-like phenotype and review of the literature.
Eur J Med Genet
; 61(8): 421-427, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29501611
16.
Genetic counseling in times of genomic analyses - current aspects of common topics in human genetics practice.
Med Genet
; 33(1): 1-2, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38836199
17.
Premature ovarian failure caused by a heterozygous missense mutation in POF1B and a reciprocal translocation 46,X,t(X;3)(q21.1;q21.3).
Sex Dev
; 9(2): 86-90, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25676666
18.
OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).
Orphanet J Rare Dis
; 10: 15, 2015 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-25759012
19.
Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genes.
Hum Mutat
; 19(5): 526-35, 2002 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-11968085
20.
Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda.
J Invest Dermatol
; 120(3): 351-5, 2003 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-12603845