Detalhe da pesquisa
1.
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
J Med Genet
; 60(9): 885-893, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-36788019
2.
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
J Med Genet
; 59(9): 888-894, 2022 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-34675124
3.
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.
Am J Hum Genet
; 104(1): 35-44, 2019 01 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30554721
4.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 24(8): 1753-1760, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35579625
5.
Per- and Polyfluoroalkyl Substances (PFAS) in Breast Milk: Concerning Trends for Current-Use PFAS.
Environ Sci Technol
; 55(11): 7510-7520, 2021 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33982557
6.
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
Am J Hum Genet
; 101(1): 23-36, 2017 Jul 06.
Artigo
Inglês
| MEDLINE | ID: mdl-28625504
7.
Healthcare recommendations for Joubert syndrome.
Am J Med Genet A
; 182(1): 229-249, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31710777
8.
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.
Am J Hum Genet
; 98(4): 772-81, 2016 Apr 07.
Artigo
Inglês
| MEDLINE | ID: mdl-27040692
9.
Rhombencephalosynapsis: Fused cerebellum, confused geneticists.
Am J Med Genet C Semin Med Genet
; 178(4): 432-439, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30580482
10.
Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity.
Genet Med
; 20(2): 223-233, 2018 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-28771248
11.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 25(2): 100004, 2023 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-36745127
12.
Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.
Hum Mol Genet
; 24(18): 5313-25, 2015 Sep 15.
Artigo
Inglês
| MEDLINE | ID: mdl-26130693
13.
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.
Am J Hum Genet
; 95(2): 227-34, 2014 Aug 07.
Artigo
Inglês
| MEDLINE | ID: mdl-25105227
14.
Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.
Am J Hum Genet
; 94(1): 62-72, 2014 Jan 02.
Artigo
Inglês
| MEDLINE | ID: mdl-24360808
15.
Mortality in Joubert syndrome.
Am J Med Genet A
; 173(5): 1237-1242, 2017 May.
Artigo
Inglês
| MEDLINE | ID: mdl-28371402
16.
MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
J Med Genet
; 53(1): 62-72, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-26490104
17.
Temporal bone and cranial nerve findings in pontine tegmental cap dysplasia.
Neuroradiology
; 58(2): 179-87, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-26458891
18.
KIAA0586 is Mutated in Joubert Syndrome.
Hum Mutat
; 36(9): 831-5, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-26096313
19.
Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis.
Mov Disord
; 28(14): 2019-23, 2013 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-24105968
20.
Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity.
Brain
; 135(Pt 5): 1370-86, 2012 May.
Artigo
Inglês
| MEDLINE | ID: mdl-22451504