Works matching DE "JOUBERT syndrome"

Results: 305

New-Onset Type 1 Diabetes in a Child with Joubert Syndrome: A Rare Endocrine Complication.

Published in:

2025

By:

Furuta, Yutaka;
Nelson, Erica T.;
Tinker, Rory J.;
Grochowsky, Angela R.

Publication type:

Case Study

Expansion of the Genotypic and Phenotypic Spectrum of TCTN3 -Related Joubert Syndrome.

Published in:

Genes, 2025, v. 16, n. 6, p. 706, doi. 10.3390/genes16060706

By:

Lo Giudice, Mariangela;
Borgione, Eugenia;
Giuliano, Marika;
Santa Paola, Sandro;
Di Blasi, Francesco Domenico;
Pettinato, Rosa;
Romano, Corrado;
Scuderi, Carmela

Publication type:

Article

Anesthetic management of patients with Joubert syndrome: a retrospective analysis of a single-institutional case series.

Published in:

Pediatric Anesthesia, 2014, v. 24, n. 11, p. 1180, doi. 10.1111/pan.12472

By:

Sriganesh, Kamath;
Vinay, Byrappa;
Jena, Sritam;
Sudhir, Venkataramaiah;
Saini, Jitender;
Umamaheswara Rao, Ganne S.

Publication type:

Article

Decaying molar tooth sign in Joubert syndrome and related disorders is correlated to a displacement of the corticospinal tract.

Published in:

2017

By:

Alves, César;
Ferraciolli, Suely;
Matsui, Ciro;
Lucato, Leandro

Publication type:

Letter

Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center.

Published in:

2018

By:

Strongin, Anna;
Heller, Theo;
Doherty, Dan;
Glass, Ian A.;
Parisi, Melissa A.;
Bryant, Joy;
Choyke, Peter;
Turkbey, Baris;
Daryanani, Kailash;
Yildirimli, Deniz;
Vemulapalli, Meghana;
Mullikin, Jim C.;
Malicdan, May C.;
Vilboux, Thierry;
Gahl, William A.;
Gunay-Aygun, Meral;
NISC Comparative Sequencing Program

Publication type:

journal article

New Insights into the Neuropsychological Profile and Intellectual Quotient Variability in Joubert Syndrome Compared to Other Congenital Cerebellar Malformations.

Published in:

Cerebellum, 2024, v. 23, n. 2, p. 579, doi. 10.1007/s12311-023-01580-y

By:

Butti, Niccolò;
Oldrati, Viola;
Ferrari, Elisabetta;
Romaniello, Romina;
Gagliardi, Chiara;
Borgatti, Renato;
Urgesi, Cosimo

Publication type:

Article

Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing.

Published in:

Cerebellum, 2022, v. 21, n. 6, p. 1144, doi. 10.1007/s12311-021-01350-8

By:

D'Abrusco, Fulvio;
Arrigoni, Filippo;
Serpieri, Valentina;
Romaniello, Romina;
Caputi, Caterina;
Manti, Filippo;
Jocic-Jakubi, Bosanka;
Lucarelli, Elisabetta;
Panzeri, Elena;
Bonaglia, Maria Clara;
Chiapparini, Luisa;
Pichiecchio, Anna;
Pinelli, Lorenzo;
Righini, Andrea;
Leuzzi, Vincenzo;
Borgatti, Renato;
Valente, Enza Maria

Publication type:

Article

Date-Independent Parameters: an Innovative Method to Assess Fetal Cerebellar Vermis.

Published in:

Cerebellum, 2015, v. 14, n. 3, p. 231, doi. 10.1007/s12311-014-0632-x

By:

Lei, Ting;
Xie, Hong-Ning;
Zhu, Yun-Xiao;
Zheng, Ju;
Zhang, Fan;
Feng, Jie-Ling

Publication type:

Article

Optimal prenatal genetic diagnostic approach for posterior fossa malformation: karyotyping, copy number variant testing, or whole-exome sequencing?

Published in:

European Journal of Medical Research, 2024, v. 29, n. 1, p. 1, doi. 10.1186/s40001-024-01993-3

By:

Juan, Zhang;
Cuixia, Guo;
Yuanjie, Cui;
Yan, Liu;
Ling, Yao;
Tiejuan, Zhang;
Li, Wang;
Jijing, Han;
Guohui, Zhang;
Yousheng, Yan;
Qingqing, Wu;
Lijuan, Sun

Publication type:

Article

Novel Compound Heterozygous Variants in MKS1 Leading to Joubert Syndrome.

Published in:

Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.576235

By:

Luo, Minna;
He, Ruida;
Lin, Zaisheng;
Shen, Yue;
Zhang, Guangyu;
Cao, Zongfu;
Lu, Chao;
Meng, Dan;
Zhang, Jing;
Ma, Xu;
Cao, Muqing

Publication type:

Article

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

Novel CC2D2A compound heterozygous mutations cause Joubert syndrome.

Published in:

Molecular Medicine Reports, 2017, v. 15, n. 1, p. 305, doi. 10.3892/mmr.2016.6007

By:

DAIMIN XIAO;
CHUNLI LV;
ZHIMIN ZHANG;
MINGSONG WU;
XIANG ZHENG;
LEI YANG;
XUEYING LI;
GUAN WU;
JINDONG CHEN

Publication type:

Article

The use of modern ultrasound tridimensional techniques for the evaluation of fetal cerebral midline structures -- a practical approach.

Published in:

Medical Ultrasonography, 2015, v. 17, n. 2, p. 235, doi. 10.11152/mu.2013.2066.172.dm1

By:

Muresan, Daniel;
Roxana, Popa;
Stamatian, Florin;
Rotar, Ioana Cristina

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

Cerebellar vermis volume in major depressive disorder.

Published in:

Brain Structure & Function, 2013, v. 218, n. 4, p. 851, doi. 10.1007/s00429-012-0433-2

By:

Yucel, Kaan;
Nazarov, Anthony;
Taylor, Valerie;
Macdonald, Kathryn;
Hall, Geoffrey;
MacQueen, Glenda

Publication type:

Article

Joubert Plus Syndrome with Self-Mutilation: A Case report.

Published in:

2017

By:

Mowafy, Yousr N.;
Wahba, Nadia A.;
Sharaf, Aly A.

Publication type:

journal article

Joubert syndrome and hydrocephalus: Further expanding the phenotypic spectrum of a pleiotropic ciliopathy.

Published in:

2024

By:

Gana, Simone;
Valente, Enza Maria

Publication type:

Case Study

Hydrocephalus associated with a molar tooth sign: A distinct subtype of Joubert syndrome.

Published in:

Developmental Medicine & Child Neurology, 2024, v. 66, n. 7, p. 948, doi. 10.1111/dmcn.15845

By:

Gafner, Michal;
Haddad, Leila;
Gupta, Rachna;
Leibovitz, Zvi;
Zilberman Ron, Itamar;
Ben‐Sira, Liat;
Libzon, Stephanie;
Gindes, Liat;
Boltshauser, Eugen;
Lerman‐Sagie, Tally

Publication type:

Article

Visual function in children with Joubert syndrome.

Published in:

Developmental Medicine & Child Neurology, 2024, v. 66, n. 3, p. 379, doi. 10.1111/dmcn.15732

By:

Morelli, Federica;
Toni, Federico;
Saligari, Elena;
D'Abrusco, Fulvio;
Serpieri, Valentina;
Ballante, Elena;
Ruberto, Giulio;
Borgatti, Renato;
Valente, Enza Maria;
Signorini, Sabrina;
Bertone, Chiara;
Misefari, Walter;
Antonini, Mauro;
Paini, Daria;
Perotto, Eleonora;
Luparia, Antonella;
Olivier, Lucrezia;
Ercolino, Elisa;
Pichiecchio, Anna

Publication type:

Article

How useful is the diagnosis of ataxic cerebral palsy?

Published in:

2020

By:

Dan, Bernard

Publication type:

Editorial

Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01130-x

By:

Shen, Yue;
Wang, Hao;
Liu, Zhimin;
Luo, Minna;
Ma, Siyu;
Lu, Chao;
Cao, Zongfu;
Yu, Yufei;
Cai, Ruikun;
Chen, Cuixia;
Li, Qian;
Gao, Huafang;
Peng, Yun;
Xu, Baoping;
Ma, Xu

Publication type:

Article

The Use of an iPad2 as a Leisure Activity for a Student with Multiple Disabilities.

Published in:

2013

By:

Helps, Dawn H.;
Herzberg, Tina S.

Publication type:

Case Study

Joubert syndrome causing mutation in C2 domain of CC2D2A affects structural integrity of cilia and cellular signaling molecules.

Published in:

Experimental Brain Research, 2024, v. 242, n. 3, p. 619, doi. 10.1007/s00221-023-06762-y

By:

Jayarajan, Roopasree O.;
Chakraborty, Soura;
Raghu, Kozhiparambil Gopalan;
Purushothaman, Jayamurthy;
Veleri, Shobi

Publication type:

Article

Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro.

Published in:

Cell & Tissue Research, 2024, v. 396, n. 2, p. 255, doi. 10.1007/s00441-024-03876-9

By:

De Mori, Roberta;
Tardivo, Silvia;
Pollara, Lidia;
Giliani, Silvia Clara;
Ali, Eltahir;
Giordano, Lucio;
Leuzzi, Vincenzo;
Fischetto, Rita;
Gener, Blanca;
Diprima, Santo;
Morelli, Marco J.;
Monti, Maria Cristina;
Sottile, Virginie;
Valente, Enza Maria

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

Dandy-Walker malformation and psychotic disorder. Review in accordance with a clinical case.

Published in:

2024

By:

Calle González, A.;
Batet Sánchez, D.;
Martínez Hernanz, Á.;
Roque González, I.

Publication type:

Abstract

Psychotic disorder concurrent with dandy-walker malformation: case report.

Published in:

European Psychiatry, 2020, v. 63, p. S428

By:

Martinez, M.;
Barba, Z.

Publication type:

Article

Cerebellar vermis: a vulnerable location of remote brain haemorrhages after thrombolysis for ischaemic stroke.

Published in:

2017

By:

Tejada-Meza, Herbert;
Modrego, Pedro;
Modrego, Pedro J

Publication type:

journal article

Joubert syndrome with autism in two siblings: A rare presentation.

Published in:

Indian Journal of Psychiatry, 2016, v. 58, n. 1, p. 90, doi. 10.4103/0019-5545.174395

By:

Raghavan, D. Vijaya;
Doshi, V. Vimal;
Nambi, Shanthi

Publication type:

Article

Temporal ablation of the ciliary protein IFT88 alters normal brainwave patterns.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-024-83432-1

By:

Strobel, Matthew R.;
Zhou, Yuxin;
Qiu, Liyan;
Hofer, Aldebaran M.;
Chen, Xuanmao

Publication type:

Article

New functions of B9D2 in tight junctions and epithelial polarity.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-75577-w

By:

Caenen-Braz, Chloe;
Bouzhir, Latifa;
Dupuis-Williams, Pascale

Publication type:

Article

PDE6D Mediates Trafficking of Prenylated Proteins NIM1K and UBL3 to Primary Cilia.

Published in:

Cells (2073-4409), 2023, v. 12, n. 2, p. 312, doi. 10.3390/cells12020312

By:

Faber, Siebren;
Letteboer, Stef J. F.;
Junger, Katrin;
Butcher, Rossano;
Tammana, Trinadh V. Satish;
van Beersum, Sylvia E. C.;
Ueffing, Marius;
Collin, Rob W. J.;
Liu, Qin;
Boldt, Karsten;
Roepman, Ronald

Publication type:

Article

The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 10, p. 651, doi. 10.1038/jhg.2015.86

By:

Tsurusaki, Yoshinori;
Kobayashi, Yasuko;
Hisano, Masataka;
Ito, Shuichi;
Doi, Hiroshi;
Nakashima, Mitsuko;
Saitsu, Hirotomo;
Matsumoto, Naomichi;
Miyake, Noriko

Publication type:

Article

A commentary on The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 2, p. 57, doi. 10.1038/jhg.2012.138

By:

Kaname, Tadashi;
Yanagi, Kumiko;
Naritomi, Kenji

Publication type:

Article

The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 2, p. 113, doi. 10.1038/jhg.2012.117

By:

Tsurusaki, Yoshinori;
Kobayashi, Yasuko;
Hisano, Masataka;
Ito, Shuichi;
Doi, Hiroshi;
Nakashima, Mitsuko;
Saitsu, Hirotomo;
Matsumoto, Naomichi;
Miyake, Noriko

Publication type:

Article

Physiotherapy and Rehabilitation in a Child with Joubert Syndrome.

Published in:

2017

By:

İpek, Özge;
Akyolcu, Özge;
Bayar, Banu

Publication type:

Case Study

Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome.

Published in:

2015

By:

Sanjeev, Rama Krishna;
Kapoor, Seema;
Goyal, Manisha;
Kapur, Rajiv;
Gleeson, Joseph Gerard

Publication type:

Case Study

فتوکلینیک.

Published in:

2016

By:

حسینی نژاد, سیدمحسن;
صفاییان, بارانک;
حسینی, سیداحمد

Publication type:

Case Study

Oculo-orofaciodigital defect with endocrinopathy in Joubert syndrome: A rare combination.

Published in:

2014

By:

Bharat Bhushan;
Bhargava, Amita;
Kasundra, Gaurav;
Khichar, Shubhakaran;
Sharma, Janardan;
Basavaraj, Banakar

Publication type:

Case Study

Characteristic Brain Imaging Findings in a Patient with Joubert Syndrome and Segmental Glomerulosclerosis.

Published in:

2015

By:

Abduljabbar, Ahmed H.

Publication type:

Case Study

Ocular findings in two siblings with Joubert syndrome.

Published in:

Clinical Ophthalmology, 2014, v. 8, p. 229, doi. 10.2147/OPTH.S58672

By:

Shinji Makino;
Hironobu Tampo

Publication type:

Article

Regulation of cerebellar nuclei morphogenesis by Zfp423 / ZNF423, a gene mutated in Joubert syndrome and cerebellar vermis hypoplasia.

Published in:

Italian Journal of Anatomy & Embryology / Archivio Italiano di Anatomia Ed Embriologia, 2021, v. 125, p. 51

By:

Casoni, Filippo;
Croci, Laura;
Demenego, Giulia;
Marroni, Francesca;
Cremona, Ottavio;
Consalez, G. Giacomo

Publication type:

Article

Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype–Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease.

Published in:

Clinical Genetics, 2025, v. 107, n. 5, p. 517, doi. 10.1111/cge.14687

By:

Ercoskun, Pelin;
Aydin Gumus, Aydeniz;
Gokpinar Ili, Ezgi;
Yilmaz Celik, Lale;
Dogan, Mustafa;
Yavuz, Sevgi;
Yildiz, Gursel;
Gezdirici, Alper

Publication type:

Article

Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report.

Published in:

Clinical Genetics, 2023, v. 103, n. 4, p. 448, doi. 10.1111/cge.14306

By:

Martínez‐Granero, Francisco;
Martínez‐Cayuelas, Elena;
Rodilla, Cristina;
Núñez‐Moreno, Gonzalo;
Rodríguez de Alba, Marta;
Blanco‐Kelly, Fiona;
Romero, Raquel;
Minguez, Pablo;
Ayuso, Carmen;
Lorda‐Sanchez, Isabel;
Corton, Marta;
Almoguera, Berta

Publication type:

Article

Molecular genetic analysis of 30 families with Joubert syndrome.

Published in:

Clinical Genetics, 2016, v. 90, n. 6, p. 526, doi. 10.1111/cge.12836

By:

Suzuki, T.;
Miyake, N.;
Tsurusaki, Y.;
Okamoto, N.;
Alkindy, A.;
Inaba, A.;
Sato, M.;
Ito, S.;
Muramatsu, K.;
Kimura, S.;
Ieda, D.;
Saitoh, S.;
Hiyane, M.;
Suzumura, H.;
Yagyu, K.;
Shiraishi, H.;
Nakajima, M.;
Fueki, N.;
Habata, Y.;
Ueda, Y.

Publication type:

Article