Detalhe da pesquisa
1.
Gyrate atrophy: clinical and genetic findings in a female without arginine-restricted diet during her first 39 years of life and report of a new OAT gene mutation.
Doc Ophthalmol
; 125(1): 81-9, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22674428
2.
PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption.
Am J Hum Genet
; 83(6): 781-6, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19061984
3.
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
Am J Hum Genet
; 82(2): 464-76, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18252226
4.
Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3 mutation.
BMC Med Genet
; 12: 79, 2011 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-21639936
5.
Gross rearrangements in BRCA1 but not BRCA2 play a notable role in predisposition to breast and ovarian cancer in high-risk families of German origin.
Cancer Genet Cytogenet
; 168(1): 44-9, 2006 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16772120
6.
Fundus Autofluorescence and SD-OCT Document Rapid Progression in Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Associated with a c.256G > A Mutation in BEST1.
Ophthalmic Genet
; 37(2): 201-8, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26771239
7.
Detection of the germline KIT S476I mutation in a kindred with familial mastocytosis associated with gastrointestinal stromal tumors.
J Allergy Clin Immunol Pract
; 9(5): 2123-2125.e1, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33422680
8.
[Primary failure of eruption (PFE). Clinical and molecular genetics analysis]. / Défaut primaire d'éruption (DPE). Analyse génétique clinique et moléculaire∗
Orthod Fr
; 84(3): 241-50, 2013 Sep.
Artigo
em Francês
| MEDLINE | ID: mdl-23993365
9.
Anti-Fas/CD95 and tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) differentially regulate apoptosis in normal and neoplastic human basophils.
Leuk Lymphoma
; 54(4): 835-42, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22989017
10.
A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene.
Invest Ophthalmol Vis Sci
; 53(4): 2112-8, 2012 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-22427542
11.
Primary failure of eruption (PFE)--clinical and molecular genetics analysis.
J Orofac Orthop
; 71(1): 6-16, 2010 Jan.
Artigo
em Inglês, Alemão
| MEDLINE | ID: mdl-20135246
12.
Lipofuscin- and melanin-related fundus autofluorescence in patients with ABCA4-associated retinal dystrophies.
Am J Ophthalmol
; 147(5): 895-902, 902.e1, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19243736
13.
Progression of retinal pigment epithelial alterations during long-term follow-up in female carriers of choroideremia and report of a novel CHM mutation.
Arch Ophthalmol
; 127(7): 907-12, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19597113
14.
Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.
Am J Ophthalmol
; 147(3): 518-530.e1, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19038374
15.
ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT.
Doc Ophthalmol
; 116(2): 97-109, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17987333
16.
A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2.
Am J Med Genet A
; 140(8): 873-7, 2006 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-16528753