Works matching DE "JOUBERT syndrome"

Results: 298

Síndrome de Joubert-Boltshauser con asociación a malformación Dandy- Walker. Reporte de dos casos.

Published in:

Revista Mexicana de Neurociencia, 2014, v. 15, n. 2, p. 112

By:

Peña-Landín, Dora Maricela;
Carmona-Vázquez, Carlos Raúl;
Medina-Crespo, Violeta;
Gómez-Garza, Gilberto;
Dávila-Gutiérrez, Guillermo

Publication type:

Article

Tectocerebellar dysraphia and occipital encephalocele associated with trisomy X: case report and review of the literature.

Published in:

2021

By:

Goulart, Lissa C.;
Ferreira-Filho, Luiz A.;
da Silva, Mariana M.;
Carneiro, Israel S. B.;
Carneiro, Siderley S.;
Vilela-Filho, Osvaldo

Publication type:

Case Study

Tectocerebellar dysraphia with occipital encephalocele: a phenotypic variant of the TMEM231 gene mutation induced Joubert syndrome.

Published in:

Child's Nervous System, 2019, v. 35, n. 7, p. 1257, doi. 10.1007/s00381-019-04048-9

By:

Nicolas-Jilwan, Manal;
Al-Ahmari, Ahmed Nasser;
Alowain, Mohammed Abdulaziz;
Altuhaini, Khaled Saleh;
Alshail, Essam Abdulaziz

Publication type:

Article

Late-onset hydrocephalus in a child with Joubert syndrome: a case report.

Published in:

2018

By:

Fehrenbach, M. K.;
Nestler, U.;
Meixensberger, J.;
Krause, M.;
Bernhard, M. K.;
Merkenschlager, A.;
Weise, S.

Publication type:

Case Study

An unusual association of classical Joubert syndrome with retrocerebellar arachnoid cyst.

Published in:

2016

By:

Baldawa, Sachin

Publication type:

Letter

Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome.

Published in:

Brain Communications, 2021, v. 3, n. 3, p. 1, doi. 10.1093/braincomms/fcab163

By:

Powell, Laura;
Olinger, Eric;
Wedderburn, Sarah;
Ramakumaran, Vijayalakshmi Salem;
Kini, Usha;
Clayton-Smith, Jill;
Ramsden, Simon C.;
Rice, Sarah J.;
Barroso-Gil, Miguel;
Wilson, Ian;
Cowley, Lorraine;
Johnson, Sally;
Harris, Elizabeth;
Montgomery, Tara;
Bertoli, Marta;
Boltshauser, Eugen;
Sayer, John A.

Publication type:

Article

Early ophthalmic findings in joubert syndrome.

Published in:

Journal of the Egyptian Ophthalmological Society, 2017, v. 110, n. 4, p. 127, doi. 10.4103/ejos.ejos_46_17

By:

Abdelazeem, Amira A.;
Hassanin, Olfat A.;
Elgohary, Amal A.;
Zaki, Maha S.;
Galal, Amany H.;
Gleeson, Joseph G.

Publication type:

Article

Compound heterozygous splicing variants in KIAA0586 cause fetal short‐rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 3, p. 1, doi. 10.1002/mgg3.2124

By:

Zhao, Qianying;
Xu, Bocheng;
Xiang, Qinqin;
Tan, Yu;
Xie, Hanbing;
Gao, Qianqian;
Wen, Lingyi;
Wang, He;
Yang, Mei;
Liu, Shanling

Publication type:

Article

Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 3, p. 1, doi. 10.1002/mgg3.1877

By:

Fei, Hongjun;
Wu, Yi;
Wang, Yanlin;
Zhang, Junyu

Publication type:

Article

Update of genetic variants in CEP120 and CC2D2A—With an emphasis on genotype‐phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1603

By:

Barroso‐Gil, Miguel;
Olinger, Eric;
Ramsbottom, Simon A.;
Molinari, Elisa;
Miles, Colin G.;
Sayer, John A.

Publication type:

Article

Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1682

By:

Zhang, Xiujuan;
Shen, Yue;
Li, Ping;
Cai, Ruikun;
Lu, Chao;
Li, Qian;
Chen, Cuixia;
Yu, Yufei;
Cheng, Tingting;
Wang, Xian;
Luo, Minna;
Cao, Muqing;
Cao, Zongfu;
Ma, Xu

Publication type:

Article

Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.1004

By:

Luo, Minna;
Cao, Li;
Cao, Zongfu;
Ma, Siyu;
Shen, Yue;
Yang, Di;
Lu, Chao;
Lin, Zaisheng;
Liu, Zhimin;
Yu, Yufei;
Cai, Ruikun;
Chen, Cuixia;
Gao, Huafang;
Wang, Xueyan;
Cao, Muqing;
Ma, Xu

Publication type:

Article

The expanding phenotype of OFD1‐related disorders: Hemizygous loss‐of‐function variants in three patients with primary ciliary dyskinesia.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.911

By:

Hannah, William B.;
DeBrosse, Suzanne;
Kinghorn, BreAnna;
Strausbaugh, Steven;
Aitken, Moira L.;
Rosenfeld, Margaret;
Wolf, Whitney E.;
Knowles, Michael R.;
Zariwala, Maimoona A.

Publication type:

Article

Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1.

Published in:

BioMed Research International, 2018, p. 1, doi. 10.1155/2018/4032543

By:

Linpeng, Siyuan;
Liu, Jing;
Pan, Jianyan;
Cao, Yingxi;
Teng, Yanling;
Liang, Desheng;
Li, Zhuo;
Wu, Lingqian

Publication type:

Article

A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project).

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-32169-4

By:

Leggatt, Gary;
Cheng, Guo;
Narain, Sumit;
Briseño-Roa, Luis;
Annereau, Jean-Philippe;
Ambrose, J. C.;
Arumugam, P.;
Bevers, R.;
Bleda, M.;
Boardman-Pretty, F.;
Boustred, C. R.;
Brittain, H.;
Brown, M. A.;
Caulfield, M. J.;
Chan, G. C.;
Giess, A.;
Griffin, J. N.;
Hamblin, A.;
Henderson, S.;
Hubbard, T. J. P.

Publication type:

Article

Fourth ventricle index: sonographic marker for severe fetal vermian dysgenesis/agenesis.

Published in:

2019

By:

Haratz, K. K.;
Shulevitz, S. L.;
Leibovitz, Z.;
Lev, D.;
Shalev, J.;
Tomarkin, M.;
Malinger, G.;
Lerman‐Sagie, T.;
Gindes, L.;
Lerman-Sagie, T

Publication type:

journal article

EP09.19: Prenatal diagnosis of Joubert syndrome by ultrasound and MRI.

Published in:

Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 233, doi. 10.1002/uog.19926

By:

Xia, W.

Publication type:

Article

Enlarged intracranial translucency and molar tooth sign in the first trimester as features of Joubert syndrome and related disorders.

Published in:

2016

By:

Quarello, E.

Publication type:

Case Study

OP05.01: The fourth ventricle index as a screening tool for Joubert syndrome and related disorders.

Published in:

Ultrasound in Obstetrics & Gynecology, 2016, v. 48, p. 63, doi. 10.1002/uog.16194

By:

Leshem Shulevitz, S.;
Haratz, K.K.;
Lerman-Sagie, T.;
Leibovitz, Z.;
Lev, D.;
Shalev, Y.;
Tamarkin, M.;
Gindes, L.

Publication type:

Article

P30.08: Severe ventriculomegaly, cerebellar hypoplasia and molar tooth sign in a case of Joubert syndrome.

Published in:

Ultrasound in Obstetrics & Gynecology, 2016, v. 48, p. 268, doi. 10.1002/uog.16800

By:

Cialdella, M.;
Volpe, G.;
Capuano, P.;
D'Addario, V.

Publication type:

Article

EP02.10: Detection of fetal cerebellar vermis using 3D ultrasound: methods and advantages.

Published in:

2016

By:

Ji, W.

Publication type:

journal article

First-trimester diagnosis of Meckel-Gruber syndrome by fetal ultrasound with molecular identification of CC2D2A mutations by next-generation sequencing.

Published in:

Ultrasound in Obstetrics & Gynecology, 2014, v. 44, n. 6, p. 719, doi. 10.1002/uog.13381

By:

Jones, D.;
Fiozzo, F.;
Waters, B.;
McKnight, D.;
Brown, S.

Publication type:

Article

Prenatal abnormal features of the fourth ventricle in Joubert syndrome and related disorders.

Published in:

Ultrasound in Obstetrics & Gynecology, 2014, v. 43, n. 2, p. 227, doi. 10.1002/uog.12567

By:

Quarello, E.;
Molho, M.;
Garel, C.;
Couture, A.;
Legac, M. P.;
Moutard, M. L.;
Bault, J. P.;
Fallet‐Bianco, C.;
Guibaud, L.

Publication type:

Article

Congenital rubella with agenesis of the inferior cerebellar vermis and total anomalous pulmonary venous drainage.

Published in:

Ultrasound in Obstetrics & Gynecology, 2013, v. 42, n. 2, p. 235, doi. 10.1002/uog.12399

By:

Cluver, C.;
Meyer, R.;
Odendaal, H.;
Geerts, L.

Publication type:

Article

Clinical Case Prize Category.

Published in:: 2016
Publication type:: Abstract

Joubert Syndrome Presenting With Normal Pyramidal Decussation: A Case Report.

Published in:

Annals of Rehabilitation Medicine, 2017, v. 41, n. 4, p. 701, doi. 10.5535/arm.2017.41.4.701

By:

Nam-Sik Kim;
Sung-Hee Park

Publication type:

Article

Anesthetic considerations of Joubert syndrome in patients with mitochondrial disease - A case report -.

Published in:

Anesthesia & Pain Medicine, 2021, v. 16, n. 2, p. 158, doi. 10.17085/apm.20091

By:

Jeong Yeon Kim;
Koun Jeong;
Ki Seob Han;
Ji Eun Park;
Mun Gyu Kim;
Mi Roung Jun

Publication type:

Article

Deletion of Aurora kinase A prevents the development of polycystic kidney disease in mice.

Published in:

Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-023-44410-9

By:

Tham, Ming Shen;
Cottle, Denny L.;
Zylberberg, Allara K.;
Short, Kieran M.;
Jones, Lynelle K.;
Chan, Perkin;
Conduit, Sarah E.;
Dyson, Jennifer M.;
Mitchell, Christina A.;
Smyth, Ian M.

Publication type:

Article

Diffusion Tensor Imaging in a Patient with Joubert Syndrome.

Published in:

Turkish Journal of Neurology / Turk Noroloji Dergisi, 2019, v. 25, n. 3, p. 172, doi. 10.4274/tnd.2019.90912

By:

Atalar, Mehmet Haydar;
Yıldız, Bülent;
Yıldız, Özlem Kayım

Publication type:

Article

Clinical and genetic findings in an Iraqi family with TMEM67-associated Joubert syndrome.

Published in:

Neurology Asia, 2025, v. 30, n. 1, p. 313, doi. 10.54029/2025xkd

By:

Al-Mozani, Sahar Kareem;
Al-Tulaibawi, Khulood Jasim;
Al-Zaalan, Ayoob Radhi;
Neissi, Mostafa;
Al-Badran, Adnan Issa;
Nekouei, Elaheh;
Mohammadi-Asl, Javad

Publication type:

Article

Mutations in CSPP1, TMEM67, PLP1, and GAN associated with pediatric neurological disorders in Iran.

Published in:

Neurology Asia, 2024, v. 29, n. 4, p. 1131, doi. 10.54029/2024ivp

By:

Alizadeh, Pooyan;
Najafi, Sahar;
Neissi, Mostafa;
Omran, Behzad Aghabarazadeh;
Babadi, Armin Jahangiri

Publication type:

Article

Joubert syndrome caused by a TMEM67 mutation: Genotype-phenotype analysis.

Published in:

Neurology Asia, 2024, v. 29, n. 2, p. 501, doi. 10.54029/2024wir

By:

Neissi, Mostafa;
Mohammadi-Asl, Misagh;
Roghani, Mojdeh;
Al-Badran, Adnan Issa;
Sheikh-Hosseini, Motahareh;
Mohammadi-Asl, Javad

Publication type:

Article

Homozygous AHI1 gene mutation (c.1213A>C; Thr405Pro) leads to Joubert syndrome in a consanguineous Iranian family: A case report.

Published in:

Neurology Asia, 2022, v. 27, n. 2, p. 527, doi. 10.54029/2022anp

By:

Neissi, Mostafa;
Al-Badran, Adnan Issa;
Mohammadi-Asl, Javad

Publication type:

Article

Molar tooth sign - Characteristic of Joubert's syndrome.

Published in:

2015

By:

Mittal, Saumya H.;
Kedambadi, Rakshith;
Zulkifli, Misri;
Pai, Shivanand;
Shenoy, Nisha;
Gautam, Gundabolu

Publication type:

Case Study

儿童Joubert 综合征临床及遗传学分析.

Published in:

Chinese Journal of Contemporary Pediatrics, 2023, v. 25, n. 5, p. 497, doi. 10.7499/j.issn.1008-8830.2212069

By:

张广宇;
赵云霞;
赵会玲;
唐国皓;
王鹏亮;
朱登纳

Publication type:

Article

Two Novel Mutations in the C-Terminal Region of Centrosomal Protein 290 (CEP290) Result in Classic Joubert Syndrome.

Published in:

Journal of Child Neurology, 2015, v. 30, n. 6, p. 772, doi. 10.1177/0883073814535488

By:

Wang, Lixia;
Yang, Yun;
Song, Jieping;
Mao, Liangwei;
Wei, Xiaoming;
Sun, Yan;
Yang, Shuang;
Mu, Feng;
Wang, Hairong;
Niu, Yanfeng

Publication type:

Article

New Niemann-Pick Type C1 Gene Mutation Associated With Very Severe Disease Course and Marked Early Cerebellar Vermis Atrophy.

Published in:

Journal of Child Neurology, 2013, v. 28, n. 12, p. 1694, doi. 10.1177/0883073812462765

By:

Fusco, Carlo;
Russo, Angelo;
Galla, Daniela;
Hladnik, Uros;
Frattini, Daniele;
Giustina, Elvio Della

Publication type:

Article

Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study.

Published in:

2016

By:

Wente, Sarah;
Schröder, Simone;
Buckard, Johannes;
Büttel, Hans-Martin;
von Deimling, Florian;
Diener, Wilfried;
Häussler, Martin;
Hübschle, Susanne;
Kinder, Silvia;
Kurlemann, Gerhard;
Kretzschmar, Christoph;
Lingen, Michael;
Maroske, Wiebke;
Mundt, Dirk;
Sánchez-Albisua, Iciar;
Seeger, Jürgen;
Toelle, Sandra P.;
Boltshauser, Eugen;
Brockmann, Knut

Publication type:

journal article

Annals of Neurology: Volume 86, Number 1, July 2019.

Published in:: Annals of Neurology, 2019, v. 86, n. 1, p. N.PAG, doi. 10.1002/ana.25527
Publication type:: Article

Extraciliary roles of the ciliopathy protein JBTS17 in mitosis and neurogenesis.

Published in:

2019

By:

Hong, Hyowon;
Joo, Kwangsic;
Park, Sang Min;
Seo, Jimyung;
Kim, Min Hwan;
Shin, EunBie;
Cheong, Hae Il;
Lee, Jeong Ho;
Kim, Joon

Publication type:

journal article

Development delay in a child with microcephaly and birth asphyxia: Explore diagnosis beyond hypotonic cerebral palsy.

Published in:

Journal of Pediatric Neurosciences, 2021, v. 16, n. 4, p. 285, doi. 10.4103/jpn.JPN_126_20

By:

Singh, Jasbir;
Dalal, Poonam;
Rattan, Kamal

Publication type:

Article

An Atypical Presentation of Joubert Syndrome Due to a Novel Mutation in ZNF423 Gene.

Published in:

Journal of Pediatric Neurosciences, 2020, v. 15, n. 3, p. 294, doi. 10.4103/jpn.JPN_168_19

By:

Sivathanu, Deepika;
Vetrichelvan, Dhanarathnamoorthy;
Balakrishnan, Umamaheswari;
Manokaran, Ranjith Kumar

Publication type:

Article

Clinical features and molecular genetics of autosomal recessive ataxia in the Turkish population.

Published in:

Journal of Pediatric Neurosciences, 2020, v. 15, n. 2, p. 86, doi. 10.4103/jpn.JPN_145_18

By:

Incecik, Faruk;
Herguner, Ozlem;
Mungan, Neslihan

Publication type:

Article

Mechanism and dynamics of INPP5E transport into and inside the ciliary compartment.

Published in:

Biological Chemistry, 2018, v. 399, n. 3, p. 277, doi. 10.1515/hsz-2017-0226

By:

Kösling, Stefanie Kristine;
Fansa, Eyad Kalawy;
Maffini, Stefano;
Wittinghofer, Alfred

Publication type:

Article

Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome.

Published in:

Nephrology Dialysis Transplantation, 2020, v. 35, n. 7, p. 1195, doi. 10.1093/ndt/gfy333

By:

Nuovo, Sara;
Fuiano, Laura;
Micalizzi, Alessia;
Battini, Roberta;
Bertini, Enrico;
Borgatti, Renato;
Caridi, Gianluca;
D'Arrigo, Stefano;
Fazzi, Elisa;
Fischetto, Rita;
Ghiggeri, Gian Marco;
Giordano, Lucio;
Leuzzi, Vincenzo;
Romaniello, Romina;
Signorini, Sabrina;
Stringini, Gilda;
Zanni, Ginevra;
Romani, Marta;
Valente, Enza Maria;
Emma, Francesco

Publication type:

Article

Joubert Syndrome and Biot’s Respiration Misdiagnosed as Epilepsy.

Published in:

Turkiye Klinikleri Journal of Pediatrics / Türkiye Klinikleri Pediatri Dergisi, 2022, v. 31, n. 3, p. 190, doi. 10.5336/pediatr.2022-88257

By:

YILMAZ, Başak;
ŞENEL, Gülçin BENBİR;
KARADENİZ, Derya

Publication type:

Article

Evolutionary conservation of centriole rotational asymmetry in the human centrosome.

Published in:

eLife, 2022, p. 1, doi. 10.7554/eLife.72382

By:

Gaudin, Noémie;
Gil, Paula Martin;
Boumendjel, Meriem;
Ershov, Dmitry;
Pioche-Durieu, Catherine;
Bouix, Manon;
Delobelle, Quentin;
Maniscalco, Lucia;
Than Bich Ngan Phan;
Heyer, Vincent;
Reina-San-Martin, Bernardo;
Azimzadeh, Juliette

Publication type:

Article

Any modality of renal replacement therapy can be a treatment option for Joubert syndrome.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-020-80712-4

By:

Takagi, Yoko;
Miura, Kenichiro;
Yabuuchi, Tomoo;
Kaneko, Naoto;
Ishizuka, Kiyonobu;
Takei, Mariko;
Yajima, Chikage;
Ikeuchi, Yuka;
Kobayashi, Yasuko;
Takizawa, Takumi;
Hisano, Masataka;
Tsurusaki, Yoshinori;
Matsumoto, Naomichi;
Hattori, Motoshi

Publication type:

Article

Joubert syndrome.

Published in:

Nursing Children & Young People, 2017, v. 29, n. 5, p. 15, doi. 10.7748/ncyp.29.5.15.s19

By:

Crawford, Doreen

Publication type:

Article

The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1.

Published in:

Frontiers in Physiology, 2019, p. N.PAG, doi. 10.3389/fphys.2019.00134

By:

Ott, Tim;
Kaufmann, Lilian;
Granzow, Martin;
Hinderhofer, Katrin;
Bartram, Claus R.;
Theiß, Susanne;
Seitz, Angelika;
Paramasivam, Nagarajan;
Schulz, Angela;
Moog, Ute;
Blum, Martin;
Evers, Christina M.

Publication type:

Article