Detalhe da pesquisa
1.
Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome.
Proc Natl Acad Sci U S A
; 117(2): 1113-1118, 2020 01 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-31879347
2.
Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis.
Am J Med Genet C Semin Med Genet
; 190(1): 121-130, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35312150
3.
Growth in Joubert syndrome: Growth curves and physical measurements with correlation to genotype and hepatorenal disease in 170 individuals.
Am J Med Genet A
; 188(3): 847-857, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34951506
4.
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Genet Med
; 23(7): 1234-1245, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33824499
5.
Prospective evaluation of kidney and liver disease in autosomal recessive polycystic kidney disease-congenital hepatic fibrosis.
Mol Genet Metab
; 131(1-2): 267-276, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32919899
6.
Healthcare recommendations for Joubert syndrome.
Am J Med Genet A
; 182(1): 229-249, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31710777
7.
Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2.
Am J Med Genet A
; 179(3): 410-416, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30672094
8.
Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features.
Am J Med Genet A
; 179(7): 1276-1286, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31124279
9.
DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling.
Am J Hum Genet
; 96(1): 81-92, 2015 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25557784
10.
Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center.
Mol Genet Metab
; 125(1-2): 181-191, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30064963
11.
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
12.
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
13.
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
14.
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
15.
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
16.
Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B.
Mol Genet Metab
; 120(3): 288-294, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28041820
17.
Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients.
Mol Genet Metab
; 121(4): 336-343, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28610912
18.
Surgical Debulking for Refractory Hyperammonemic Encephalopathy in Fibrolamellar Hepatocellular Carcinoma.
Hepatology
; 74(5): 2899-2901, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34105830
19.
Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients.
Am J Med Genet A
; 173(8): 2210-2218, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28573831
20.
Defective ciliogenesis in INPP5E-related Joubert syndrome.
Am J Med Genet A
; 173(12): 3231-3237, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29052317