Detalhe da pesquisa
1.
Hermansky-Pudlak syndrome: Mutation update.
Hum Mutat
; 41(3): 543-580, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31898847
2.
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
3.
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
Hum Genet
; 136(4): 409-420, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28213671
4.
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
5.
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
6.
TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family.
Hum Mutat
; 37(11): 1144-1148, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27449316
7.
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
8.
York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.
Mol Genet Metab
; 114(3): 474-82, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25577287
9.
Circulating fibrocytes as biomarker of prognosis in Hermansky-Pudlak syndrome.
Am J Respir Crit Care Med
; 190(12): 1395-401, 2014 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25347450
10.
Pregnancy in autosomal recessive polycystic kidney disease.
Arch Gynecol Obstet
; 291(3): 705-8, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25214022
11.
Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease.
Gastroenterology
; 144(1): 112-121.e2, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23041322
12.
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.
Hum Mutat
; 34(6): 827-35, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23504663
13.
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
Mol Genet Metab
; 99(2): 160-73, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19914852
14.
Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I).
Am J Med Genet A
; 152A(10): 2640-5, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20818665
15.
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.
Hum Mutat
; 30(12): 1611-9, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19862842
16.
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
17.
Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.
Front Med (Lausanne)
; 4: 62, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28603714
18.
Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease.
Clin J Am Soc Nephrol
; 5(6): 972-84, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20413436
19.
HLA B44 is associated with decreased severity of autoimmune lymphoproliferative syndrome in patients with CD95 defects (ALPS type Ia).
Clin Immunol
; 118(1): 59-65, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16257267
20.
Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome.
Hum Genet
; 119(3): 284-94, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16446975