Detalhe da pesquisa
1.
Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.
Mol Genet Metab;
121(4): 297-307, 2017 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28688840
2.
Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye.
Am J Med Genet A;
173(7): 1878-1886, 2017 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28489334
3.
DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.
Am J Med Genet A;
173(5): 1369-1373, 2017 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28371085
4.
Women at familial risk of breast cancer electing for prophylactic mastectomy: frequencies, procedures, and decision-making characteristics.
Arch Gynecol Obstet;
295(6): 1451-1458, 2017 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28439664
5.
Adherence to the breast cancer surveillance program for women at risk for familial breast and ovarian cancer versus overscreening: a monocenter study in Germany.
Breast Cancer Res Treat;
156(2): 289-99, 2016 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26960712
6.
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.
Genet Med;
18(12): 1226-1234, 2016 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27101134
7.
Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.
Am J Med Genet A;
170(6): 1502-9, 2016 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27016154
8.
Duplication Xp11.22-p14 in females: does X-inactivation help in assessing their significance?
Am J Med Genet A;
167A(3): 553-62, 2015 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25691408
9.
Clinical and molecular characterization of the BRCA2 p.Asn3124Ile variant reveals substantial evidence for pathogenic significance.
Breast Cancer Res Treat;
145(2): 451-60, 2014 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24728577
10.
Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
Am J Med Genet A;
164A(12): 3088-94, 2014 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25256811
11.
Central 22q11.2 deletions.
Am J Med Genet A;
164A(11): 2707-23, 2014 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25123976
12.
Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
Hum Mutat;
34(1): 237-47, 2013 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23033313
13.
Integrated multiplex ligation dependent probe amplification (MLPA) assays for the detection of alterations in the HEXB, GM2A and SMARCAL1 genes to support the diagnosis of Morbus Sandhoff, M. Tay-Sachs variant AB and Schimke immuno-osseous dysplasia in humans.
Mol Cell Probes;
27(1): 32-7, 2013 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23010210
14.
Compilation of Genotype and Phenotype Data in GCDH-LOVD for Variant Classification and Further Application.
Genes (Basel);
14(12)2023 Dec 14.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38137040
15.
Molecular and clinical characterization of an in frame deletion of uncertain clinical significance in the BRCA2 gene.
Breast Cancer Res Treat;
133(2): 725-34, 2012 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22228431
16.
The molecular basis of EPCAM expression loss in Lynch syndrome-associated tumors.
Mod Pathol;
25(6): 911-6, 2012 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22388758
17.
Expanding Phenotype of De Novo Mutations in GNAO1: Four New Cases and Review of Literature.
Neuropediatrics;
48(5): 371-377, 2017 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28628939
18.
The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1.
Front Physiol;
10: 134, 2019.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30858804
19.
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.
Genome Med;
10(1): 3, 2018 01 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29310717
20.
A small terminal deletion 11q in a boy without Jacobsen syndrome: narrowing the critical region for the 11q Jacobsen syndrome phenotype.
Am J Med Genet A;
158A(3): 680-4, 2012 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22302716