Works matching DE "JOUBERT syndrome"

Results: 300

Phenotypic Spectrum of KATNIP -Associated Joubert Syndrome: Possible Association with Esophageal Atresia and Review of the Literature.

Published in:

2025

By:

Tedesco, Maria Giovanna;
Donati, Ilaria;
Romeo, Chiara;
Dal Bo, Sara;
Nardini, Chiara;
Innoceta, Anna Maria;
Parmeggiani, Giulia;
Patanè, Anna;
Graziano, Claudio

Publication type:

Case Study

Case report: dental care approaches for a pediatric patient with Joubert syndrome.

Published in:

2025

By:

Alamoudi, Rana A. S.;
Shaker, Jawan;
Alsalim, Raghad;
Bakheet, Rahaf

Publication type:

Case Study

Unilateral, frontal polymicrogyria and supratentorial white matter microcysts in fetus with Joubert syndrome and related disorders: Prenatal diagnosis with magnetic resonance imaging.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2020, v. 77, n. 10, p. 1093, doi. 10.2298/VSP180906173K

By:

Koprivšek, Katarina;
Bjelan, Mladen;
Lučić, Miloš;
Šveljo, Olivera;
Kostić, Dejan;
Kozić, Duško

Publication type:

Article

Joubert Sendromunda Klinik ve Radyolojik Bulgular: Olgu Sunumu.

Published in:

European Journal of Research in Dentistry, 2023, v. 7, n. 2, p. 95, doi. 10.29228/erd.51

By:

GÜNEŞ, Yeliz;
DUMLU, Asım

Publication type:

Article

Prenatal Diagnosis of Joubert Syndrome With Whole Exome Sequencing.

Published in:

Jinekoloji-Obstetrik & Neonatoloji Tip Dergisi, 2022, v. 19, n. 2, p. 1331, doi. 10.38136/jgon.852602

By:

CÖMERT, Erhan H.;
GÜVENDAĞ GÜVEN, Emine S.;
GÜVEN, Süleyman

Publication type:

Article

Hypopituitarism—A rare manifestation in Joubert syndrome: about 4 cases.

Published in:

AIMS Medical Science, 2024, v. 11, n. 3, p. 1, doi. 10.3934/medsci.2024022

By:

Marczak, Elżbieta;
Szarras-Czapnik, Maria;
Wójcik, Małgorzata;
Zygmunt-Górska, Agata;
Starzyk, Jerzy;
Czyżowska, Karolina;
Szymańska, Anna;
Gołąb-Jenerał, Katarzyna;
Zachurzok, Agnieszka;
Moszczyńska, Elżbieta

Publication type:

Article

Endocrine manifestations in Joubert syndrome--literature review.

Published in:

AIMS Medical Science, 2023, v. 10, n. 4, p. 343, doi. 10.3934/medsci.2023027

By:

Marczak, Elzbieta;
Szarras-Czapnik, Maria;
Moszczyńska, Elzbieta

Publication type:

Article

Joubert syndrome type 17 caused by c.650G > A and c.956A > T mutations in C5orf42 gene in children: one case report.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2023, v. 23, n. 11, p. 1052, doi. 10.3969/j.issn.1672-6731.2023.11.015

By:

YANG Chang-jian;
JIANG Da-fei;
LI Ren-ke;
SHU Xiao-mei

Publication type:

Article

Joubert syndrome diagnosed renally late.

Published in:

Clinical Kidney Journal, 2021, v. 14, n. 3, p. 1017, doi. 10.1093/ckj/sfaa007

By:

Collard, Elizabeth;
Byrne, Catherine;
Georgiou, Michalis;
Michaelides, Michel;
Dixit, Abhijit

Publication type:

Article

Phenotypic and Genetic Heterogeneity of a Pakistani Cohort of 15 Consanguineous Families Segregating Variants in Leber Congenital Amaurosis-Associated Genes.

Published in:

Genes, 2024, v. 15, n. 12, p. 1646, doi. 10.3390/genes15121646

By:

Akhtar, Zainab;
Altaf, Sumaira;
Li, Yumei;
Bibi, Sana;
Shah, Jamal;
Afshan, Kiran;
Wang, Meng;
Hussain, Hafiz Muhammad Jafar;
Qureshi, Nadeem;
Chen, Rui;
Firasat, Sabika

Publication type:

Article

Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome.

Published in:

2023

By:

Cabrita Pinto, Rute Luísa;
Viaggi, Silvia;
Canale, Edoardo;
Martinez Popple, Marina;
Capra, Valeria;
Conteduca, Giuseppina;
Testa, Barbara;
Coviello, Domenico;
Covone, Angela Elvira

Publication type:

Case Study

Expanding the Phenotype of the FAM149B1 -Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family.

Published in:

Genes, 2021, v. 12, n. 11, p. 1648, doi. 10.3390/genes12111648

By:

Siegert, Sandy;
Mindler, Gabriel T.;
Brücke, Christof;
Kranzl, Andreas;
Patsch, Janina;
Ritter, Markus;
Janecke, Andreas R.;
Vodopiutz, Julia

Publication type:

Article

Prenatal Versus Postnatal Diagnosis of Meckel–Gruber and Joubert Syndrome in Patients with TMEM67 Mutations.

Published in:

Genes, 2021, v. 12, n. 7, p. 1078, doi. 10.3390/genes12071078

By:

Stembalska, Agnieszka;
Rydzanicz, Małgorzata;
Pollak, Agnieszka;
Kostrzewa, Grazyna;
Stawinski, Piotr;
Biela, Mateusz;
Ploski, Rafal;
Smigiel, Robert

Publication type:

Article

A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype.

Published in:

Genes, 2021, v. 13, n. 6, p. 945, doi. 10.3390/genes12060945

By:

Tuncel, Gulten;
Kaymakamzade, Bahar;
Engindereli, Yeliz;
Temel, Sehime G.;
Ergoren, Mahmut Cerkez

Publication type:

Article

Review of Ocular Manifestations of Joubert Syndrome.

Published in:

Genes, 2018, v. 9, n. 12, p. 605, doi. 10.3390/genes9120605

By:

Wang, Stephanie F.;
Kowal, Tia J.;
Ning, Ke;
Koo, Euna B.;
Wu, Albert Y.;
Mahajan, Vinit B.;
Sun, Yang

Publication type:

Article

Joubert syndrome: a case report of neonatal presentation and early diagnosis.

Published in:

2023

By:

González-Gordillo, Carla I.;
Orozco-Soto, Leslie E.;
Osegueda-Mayen, Juan R.;
Nava-Tapia, Alejandra;
Martinez-Monreal, Dario

Publication type:

Case Study

Ciliary genes arl13b, ahi1 and cc2d2a differentially modify expression of visual acuity phenotypes but do not enhance retinal degeneration due to mutation of cep290 in zebrafish.

Published in:

PLoS ONE, 2019, v. 14, n. 4, p. 1, doi. 10.1371/journal.pone.0213960

By:

Lessieur, Emma M.;
Song, Ping;
Nivar, Gabrielle C.;
Piccillo, Ellen M.;
Fogerty, Joseph;
Rozic, Richard;
Perkins, Brian D.

Publication type:

Article

Deleterious genetic variants in ciliopathy genes increase risk of ritodrine-induced cardiac and pulmonary side effects.

Published in:

BMC Medical Genomics, 2018, v. 11, p. 1, doi. 10.1186/s12920-018-0323-4

By:

Seo, Heewon;
Kwon, Eun Jin;
You, Young-Ah;
Park, Yoomi;
Min, Byung Joo;
Yoo, Kyunghun;
Hwang, Han-Sung;
Kim, Ju Han;
Kim, Young Ju

Publication type:

Article

Compound heterozygous TMEM67 biallelic variants including a novel frameshift mutation in two Filipino adolescent siblings with Joubert syndrome.

Published in:

Journal of Neural Transmission, 2025, v. 132, n. 5, p. 655, doi. 10.1007/s00702-025-02885-4

By:

Solijon, Khloe L. Kruzette;
Engkong, Roi O.;
Cavan, Barbra Charina V.;
Ong, Leslee Y.;
Chen, Yi-Hsuan;
Lin, Han-I;
Lin, Chin-Hsien;
Saranza, Gerard

Publication type:

Article

Joubert syndrome: report of 11 cases.

Published in:

Turkish Journal of Pediatrics, 2012, v. 54, n. 6, p. 605

By:

İncecik, Faruk;
Hergüner, M. Özlem;
Altunbaşak, Şakir;
Gleeson, Joseph G.

Publication type:

Article

The Role of Visual Electrophysiology in Systemic Hereditary Syndromes.

Published in:

2025

By:

Yu, Minzhong;
Vieta-Ferrer, Emile R.;
Bakdalieh, Anas;
Tsai, Travis

Publication type:

Literature Review

Gray matter morphological anomalies in the cerebellar vermis in first-episode schizophrenia patients with cognitive deficits.

Published in:

BMC Psychiatry, 2017, v. 17, p. 1, doi. 10.1186/s12888-017-1543-4

By:

Jingjuan Wang;
Li Zhou;
Chunlei Cui;
Zhening Liu;
Jie Lu

Publication type:

Article

Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance.

Published in:

2022

By:

Srivastava, Somya;
Manisha, Rani;
Dwivedi, Aradhana;
Agarwal, Harshita;
Saxena, Deepti;
Agrawal, Vinita;
Mandal, Kausik

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

Improving ultrasound imaging for posterior fossa cystic lesions.

Published in:

2021

By:

Haratz, KK;
Malinger, G;
Haratz, K K

Publication type:

journal article

RPI-1 (human DCDC2) displays functional redundancy with Nephronophthisis 4 in regulating cilia biogenesis in C. elegans.

Published in:

Turkish Journal of Biology, 2023, v. 47, n. 1, p. 74, doi. 10.55730/1300-0152.2642

By:

KAPLAN, Oktay İ.

Publication type:

Article

A rare case of dandy-walker syndrome with bilateral choanal atresia: a case report.

Published in:

Onkologia i Radioterapia, 2020, n. 1, p. 9

By:

Hemmatipour, Akram;
Nikbina, Maryam;
Dehkohneh, Zahra Safari;
Hatami, Ali;
Chahar Rah-e Gashin, Khadijeh Asadi

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

Good outcome of tracheostomy in a COVID‐19 child with Joubert syndrome—Case report.

Published in:

2023

By:

Epure, Veronica;
Oprea, Doru;
Gheorghe, Dan Cristian

Publication type:

Case Study

AHI1 gene mutation in a consanguineous Iranian family affected by Joubert syndrome: A case report.

Published in:

2021

By:

Neissi, Mostafa;
Mabudi, Hadideh;
Mohammadi-Asl, Javad

Publication type:

Case Study

Missense variants in TMEM67 in a patient with Joubert syndrome.

Published in:

2018

By:

Huynh, Julie M.;
Galindo, Maureen;
Laukaitis, Christina M.

Publication type:

Case Study

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

The role of liver transplantation in COACH syndrome (Joubert syndrome with congenital hepatic fibrosis): A review of the literature.

Published in:

Pediatric Transplantation, 2024, v. 28, n. 1, p. 1, doi. 10.1111/petr.14640

By:

Chen, Lijian;
Uchida, Hajime;
Komine, Ryuji;
Kodama, Tasuku;
Nakao, Toshimasa;
Okada, Noriki;
Yanagi, Yusuke;
Shimizu, Seiichi;
Abbas, Syed;
Fukuda, Akinari;
Sakamoto, Seisuke;
Kasahara, Mureo

Publication type:

Article

Combined liver and kidney transplantation and kidney after liver transplantation in children: Indication, postoperative outcome, and long-term results.

Published in:

Pediatric Transplantation, 2015, v. 19, n. 8, p. 858, doi. 10.1111/petr.12595

By:

Büscher, Rainer;
Büscher, Anja K.;
Cetiner, Metin;
Treckmann, Jürgen W.;
Paul, Andreas;
Vester, Udo;
Hoyer, Peter F.

Publication type:

Article

Joubert Syndrome with a Rare Finding of Pathological Mandibular Angle Fracture.

Published in:

2021

By:

Patil, Vathsala;
Acharya, Shruthi;
Proothi, Chandni;
Tripathi, Pratichi;
Tamrakar, Aditi;
Vineetha, Ravindranath

Publication type:

Case Study

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

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

Joubert Syndrome with a Rare Ocular Phenotype: Coloboma with Retrobulbar Cysts – A Case Report.

Published in:

2022

By:

Chettiankandi, Salam;
Khan, Gazala Afreen;
Khan, Hayat Ahmad

Publication type:

Case Study

MOLAR TOOTH SIGN.

Published in:

Pediatric Oncall Journal, 2020, v. 17, n. 1, p. 28, doi. 10.7199/ped.oncall.2020.6

By:

Rajani H. S.;
Narayanappa D.

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

Recurrent Respiratory Tract Infection in an infant: Early Diagnosis by Clinical and Radiological Pearls.

Published in:

Journal of Nepal Paediatric Society, 2021, v. 41, n. 1, p. 111, doi. 10.3126/jnps.v41i1.30250

By:

Sarkar, Shatanik;
Patra, Chaitali;
Pal, Shibani;
Pramanik, Arkapriya

Publication type:

Article

CSPP-L Associates with the Desmosome of Polarized Epithelial Cells and Is Required for Normal Spheroid Formation.

Published in:

PLoS ONE, 2015, v. 10, n. 8, p. 1, doi. 10.1371/journal.pone.0134789

By:

Sternemalm, Johan;
Geimer, Stefan;
Frikstad, Kari-Anne M.;
Schink, Kay O.;
Stokke, Trond;
Patzke, Sebastian

Publication type:

Article

Genome-Wide Association Analysis with Gray Matter Volume as a Quantitative Phenotype in First-Episode Treatment-Naïve Patients with Schizophrenia.

Published in:

PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0075083

By:

Wang, Qiang;
Xiang, Bo;
Deng, Wei;
Wu, Junyao;
Li, Mingli;
Ma, Xiaohong;
Wang, Yingcheng;
Jiang, Lijun;
McAlonan, Grainne;
Chua, Siew E.;
Sham, Pak C.;
Hu, Xun;
Li, Tao

Publication type:

Article

Saccade Adaptation Abnormalities Implicate Dysfunction of Cerebellar-Dependent Learning Mechanisms in Autism Spectrum Disorders (ASD)

Published in:

PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0063709

By:

Mosconi, Matthew W.;
Luna, Beatriz;
Kay-Stacey, Margaret;
Nowinski, Caralynn V.;
Rubin, Leah H.;
Scudder, Charles;
Minshew, Nancy;
Sweeney, John A.

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

How useful is the diagnosis of ataxic cerebral palsy?

Published in:

2020

By:

Dan, Bernard

Publication type:

Editorial

Horizontal head titubation in infants with Joubert syndrome: a new finding.

Published in:

Developmental Medicine & Child Neurology, 2014, v. 56, n. 10, p. 1016, doi. 10.1111/dmcn.12489

By:

Poretti, Andrea;
Christen, Hans‐Jürgen;
Elton, Lindsay E;
Baumgartner, Manuela;
Korenke, Georg Christoph;
Sukhudyan, Biayna;
Hethey, Sven;
Cross, Elizabeth;
Steinlin, Maja;
Boltshauser, Eugen

Publication type:

Article

Head titubation: an unrecognized manifestation of Joubert syndrome and other (midline) cerebellar disorders?

Published in:

Developmental Medicine & Child Neurology, 2014, v. 56, n. 10, p. 925, doi. 10.1111/dmcn.12508

By:

Zanni, Ginevra

Publication type:

Article

Brain malformations and mutations in α- and β-tubulin genes: a review of the literature and description of two new cases.

Published in:

Developmental Medicine & Child Neurology, 2014, v. 56, n. 4, p. 354, doi. 10.1111/dmcn.12370

By:

Romaniello, Romina;
Arrigoni, Filippo;
Cavallini, Anna;
Tenderini, Erika;
Baschirotto, Cinzia;
Triulzi, Fabio;
Bassi, Maria‐Teresa;
Borgatti, Renato

Publication type:

Article