Detalhe da pesquisa
1.
Severe manifestation of Rauch-Azzarello syndrome associated with biallelic deletion of CTNND2.
Clin Genet;
2024 Apr 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38604781
2.
The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome.
Clin Genet;
102(6): 517-523, 2022 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35908153
3.
Manifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome).
Am J Med Genet A;
188(1): 292-297, 2022 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34533271
4.
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.
Genet Med;
23(3): 543-554, 2021 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33149277
5.
Autosomal dominant polycystic kidney disease in absence of renal cyst formation illustrates genetic interaction between WT1 and PKD1.
J Med Genet;
2020 May 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32381729
6.
Stress-related changes in leukocyte profiles and telomere shortening in the shortest-lived tetrapod, Furcifer labordi.
BMC Evol Biol;
20(1): 160, 2020 12 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33261558
7.
Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study.
Br J Cancer;
123(4): 619-623, 2020 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32451468
8.
Molecular diagnosis of kidney transplant failure based on urine.
Am J Transplant;
20(5): 1410-1416, 2020 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31814324
9.
Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.
Mod Pathol;
33(11): 2341-2353, 2020 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32612247
10.
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.
Clin Genet;
98(1): 43-55, 2020 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32279304
11.
A novel splice variant expands the LAMC3-associated cortical phenotype to frontal only polymicrogyria and adult-onset epilepsy.
Am J Med Genet A;
182(11): 2761-2764, 2020 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32902107
12.
Breast MRI texture analysis for prediction of BRCA-associated genetic risk.
BMC Med Imaging;
20(1): 86, 2020 07 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32727387
13.
Body size, inbreeding, and lifespan in domestic dogs.
Conserv Genet;
21(1): 137-148, 2020 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32607099
14.
TCF4 (E2-2) harbors tumor suppressive functions in SHH medulloblastoma.
Acta Neuropathol;
137(4): 657-673, 2019 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30830316
15.
Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability.
BMC Cancer;
19(1): 435, 2019 May 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31077186
16.
A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings.
Am J Med Genet A;
179(1): 50-56, 2019 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30548383
17.
Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?
Prenat Diagn;
39(12): 1136-1147, 2019 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31498910
18.
BRCA mutations and their influence on pathological complete response and prognosis in a clinical cohort of neoadjuvantly treated breast cancer patients.
Breast Cancer Res Treat;
171(1): 85-94, 2018 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29725888
19.
Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.
Genet Med;
20(6): 630-638, 2018 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29758562
20.
Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria.
BMC Cancer;
18(1): 926, 2018 Sep 26.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30257646