Detalhe da pesquisa
1.
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Brain
; 143(1): 55-68, 2020 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31834374
2.
Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population.
Clin Genet
; 98(5): 499-506, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32799327
3.
Baraitser-Winter cerebrofrontofacial syndrome: Report of two adult siblings.
Am J Med Genet A
; 182(8): 1923-1932, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32506774
4.
The expanding spectrum of NFIB-associated phenotypes in a diverse patient population-A report of two new patients.
Am J Med Genet A
; 182(12): 2959-2963, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-32902921
5.
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy.
Am J Med Genet A
; 182(3): 513-520, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31880405
6.
Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B.
Am J Med Genet A
; 179(11): 2190-2195, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31465153
7.
Schwannomin-interacting Protein 1 Isoform IQCJ-SCHIP1 Is a Multipartner Ankyrin- and Spectrin-binding Protein Involved in the Organization of Nodes of Ranvier.
J Biol Chem
; 292(6): 2441-2456, 2017 02 10.
Artigo
Inglês
| MEDLINE | ID: mdl-27979964
8.
The cytoskeleton-associated protein SCHIP1 is involved in axon guidance, and is required for piriform cortex and anterior commissure development.
Development
; 142(11): 2026-36, 2015 Jun 01.
Artigo
Inglês
| MEDLINE | ID: mdl-25953347
9.
High EGFR protein expression and exon 9 PIK3CA mutations are independent prognostic factors in triple negative breast cancers.
BMC Cancer
; 15: 986, 2015 Dec 18.
Artigo
Inglês
| MEDLINE | ID: mdl-26680641
10.
Microarray gene expression profiling and analysis of bladder cancer supports the sub-classification of T1 tumours into T1a and T1b stages.
BJU Int
; 113(2): 333-42, 2014 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-24053469
11.
[uPA/PAI-1, Oncotype DX™, MammaPrint(®). Prognosis and predictive values for clinical utility in breast cancer management]. / uPA/PAI-1, Oncotype DX™, Mammaprint(®). Valeurs pronostique et prédictive pour une utilité clinique dans la prise en charge du cancer du sein.
Ann Pathol
; 34(5): 349-51, 2014 Oct.
Artigo
Francês
| MEDLINE | ID: mdl-25439987
12.
Genetic ancestry and diagnostic yield of exome sequencing in a diverse population.
NPJ Genom Med
; 9(1): 1, 2024 Jan 03.
Artigo
Inglês
| MEDLINE | ID: mdl-38172272
13.
Diagnostic Yield of Exome Sequencing in a Diverse Pediatric and Prenatal Population is not Associated with Genetic Ancestry.
medRxiv
; 2023 May 24.
Artigo
Inglês
| MEDLINE | ID: mdl-37293051
14.
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
NPJ Genom Med
; 8(1): 10, 2023 May 26.
Artigo
Inglês
| MEDLINE | ID: mdl-37236975
15.
Validation of tumor-associated macrophage ferritin light chain as a prognostic biomarker in node-negative breast cancer tumors: A multicentric 2004 national PHRC study.
Int J Cancer
; 131(2): 426-37, 2012 Jul 15.
Artigo
Inglês
| MEDLINE | ID: mdl-21898387
16.
Ki-67: level of evidence and methodological considerations for its role in the clinical management of breast cancer: analytical and critical review.
Breast Cancer Res Treat
; 132(3): 895-915, 2012 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-22048814
17.
Exome Sequencing Identifies a Novel SIN3A Variant in a Patient with Witteveen-Kolk Syndrome.
Mol Syndromol
; 13(4): 337-342, 2022 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-36158056
18.
Pathogenic Variants in ZSWIM7 Cause Primary Ovarian Insufficiency.
J Clin Endocrinol Metab
; 107(6): e2359-e2364, 2022 05 17.
Artigo
Inglês
| MEDLINE | ID: mdl-35218660
19.
Quantification and clinical relevance of gene amplification at chromosome 17q12-q21 in human epidermal growth factor receptor 2-amplified breast cancers.
Breast Cancer Res
; 13(1): R15, 2011 Feb 02.
Artigo
Inglês
| MEDLINE | ID: mdl-21288332
20.
Prospective evaluation of prognostic factors uPA/PAI-1 in node-negative breast cancer: phase III NNBC3-Europe trial (AGO, GBG, EORTC-PBG) comparing 6×FEC versus 3×FEC/3×Docetaxel.
BMC Cancer
; 11: 140, 2011 Apr 16.
Artigo
Inglês
| MEDLINE | ID: mdl-21496284