Detalhe da pesquisa
1.
A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.
Hum Mutat
; 39(2): 237-254, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29098742
2.
Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.
Ophthalmology
; 125(12): 1937-1952, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30055837
3.
Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center.
J Pediatr Gastroenterol Nutr
; 66(3): 428-435, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29112083
4.
Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause.
J Med Genet
; 54(8): 521-529, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28087721
5.
Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50.
Cancer
; 123(20): 3943-3954, 2017 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28678401
6.
Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.
Hum Genet
; 136(4): 399-408, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28220259
7.
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.
Genet Med
; 19(8): 875-882, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28125082
8.
CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency.
Am J Med Genet A
; 173(3): 661-666, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28052552
9.
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.
Am J Med Genet A
; 173(7): 1796-1812, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28497568
10.
Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.
J Med Genet
; 53(5): 318-29, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27095636
11.
The transcription factors Ets1 and Sox10 interact during murine melanocyte development.
Dev Biol
; 407(2): 300-12, 2015 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25912689
12.
Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.
J Med Genet
; 52(12): 830-9, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26386044
13.
Ethnicity of Patients With Germline GCM2-Activating Variants and Primary Hyperparathyroidism.
J Endocr Soc
; 1(5): 488-499, 2017 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29264504
14.
Prospective Evaluation of Kidney Disease in Joubert Syndrome.
Clin J Am Soc Nephrol
; 12(12): 1962-1973, 2017 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29146704
15.
A defined zebrafish line for high-throughput genetics and genomics: NHGRI-1.
Genetics
; 198(1): 167-70, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25009150