Works matching Joubert syndrome

Results: 648

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

Development of end-stage renal disease at a young age in two cases with Joubert syndrome.

Published in:

Turkish Journal of Pediatrics, 2014, v. 56, n. 4, p. 458

By:

Sönmez, Ferah;
Güzünler-Şen, Melike;
Yılmaz, Dilek;
Cömertpay, Gamze;
Heise, Marisol;
Çırak, Sebahattin;
Uyanık, Gökhan

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

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

Evaluation of Genetic Heterogeneity in Joubert Syndrome Case Series.

Published in:

Gazi Medical Journal, 2024, v. 35, p. 36

By:

Shirinova, Nigar;
Bereketoğlu, Muhammed Burak;
Sönmezler, Özge;
Rencüzoğulları, Çağla;
Bozdoğan, Sevcan Tuğ;
Boğa, İbrahim;
Bişgin, Atıl

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

MOLAR TOOTH SIGN - JOUBERT SYNDROME.

Published in:

Acta Medica Medianae, 2015, v. 54, n. 3, p. 74, doi. 10.5633/amm.2015.0312

By:

Ranđelović, Dušica;
Mikić-Ranđelović, Tatjana;
Laketić, Darko

Publication type:

Article

Mirror Movements of the Left Hand in a Patient with Joubert Syndrome.

Published in:

Movement Disorders Clinical Practice, 2021, v. 8, n. 6, p. 959, doi. 10.1002/mdc3.13256

By:

Ismail, Ismail Ibrahim;
Kamel, Walaa A.;
Kilany, Ayman

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

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

Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective.

Published in:

Disability & Rehabilitation, 2022, v. 44, n. 18, p. 4966, doi. 10.1080/09638288.2021.1922516

By:

Romaniello, Romina;
Gagliardi, Chiara;
Desalvo, Patrizia;
Provenzi, Livio;
Battini, Roberta;
Bertini, Enrico;
Bonati, Maria Teresa;
Briguglio, Marilena;
D'Arrigo, Stefano;
Dotti, Maria Teresa;
Giordano, Lucio;
Macaluso, Claudio;
Moroni, Isabella;
Nuovo, Sara;
Santucci, Margherita;
Signorini, Sabrina;
Stanzial, Franco;
Valente, Enza Maria;
Borgatti, Renato

Publication type:

Article

Joubert syndrome and related disorders, prenatal diagnosis with ultrasound and magnetic resonance imaging.

Published in:

Journal of the Turkish-German Gynecological Association, 2012, v. 13, n. 2, p. 135, doi. 10.5152/jtgga.2011.75

By:

İskender, Can Tekin;
Tarım, Ebru;
Alkan, Özlem

Publication type:

Article

Structural insights into the small G-protein Arl13B and implications for Joubert syndrome.

Published in:

Biochemical Journal, 2014, v. 457, n. 2, p. 301, doi. 10.1042/BJ20131097

By:

MIERTZSCHKE, Mandy;
KOERNER, Carolin;
SPOERNER, Michael;
WITTINGHOFER, Alfred

Publication type:

Article

Joubert Syndrome: Differential Diagnosis of Hyperpnea.

Published in:

2023

By:

Türkoğlu, İpek;
Kara, Fevzi;
Arık, Sinem;
Gökmen, Ali Necati;
Hanc, Volkan

Publication type:

Case Study

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's syndrome and related disorders and home-based peritoneal dialysis in East Africa: a case report.

Published in:

2017

By:

Musiime, Grace M.;
Kinuthia, Doris M. W.;
Oyatsi, Donald P.;
Manguyu, Wangui

Publication type:

Case Study

A characteristic image in Joubert syndrome: molar tooth sign.

Published in:

2015

By:

Sghir, Mouna;
Kesomtini, Wassia

Publication type:

Case Study

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: Clinical and radiological characteristics of nine patients.

Published in:

Annals of Indian Academy of Neurology, 2013, v. 16, n. 2, p. 239, doi. 10.4103/0972-2327.112480

By:

Farag Elhassanien, Ahmed;
Abdel-Aziz Alghaiaty, Hesham

Publication type:

Article

Periventricular Nodular Heterotopias as an Atypical Manifestation of Joubert Syndrome.

Published in:

Nepal Journal of Neuroscience, 2021, v. 18, n. 1, p. 73, doi. 10.3126/njn.v18i1.33295

By:

Mishra, Himanshu;
Kumar, Amit

Publication type:

Article

Case Report: Second Report of Joubert Syndrome Caused by Biallelic Variants in IFT74.

Published in:

Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.738157

By:

Zhongling, Ke;
Guoming, Li;
Yanhui, Chen;
Xiaoru, Chen

Publication type:

Article

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

Published in:

2015

By:

Abduljabbar, Ahmed H.

Publication type:

Case Study

A Case of Joubert Syndrome with Chronic Kidney Disease.

Published in:

Indian Journal of Nephrology, 2021, v. 31, n. 1, p. 61, doi. 10.4103/ijn.IJN_287_19

By:

Shamsudheen, M. P.;
Das, Uttara;
Taduri, Gangadhar;
Guditi, Swarnalatha;
Karthik, Raja;
Thakur, Rajani

Publication type:

Article

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

Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01024-y

By:

Sumathipala, Dulika;
Strømme, Petter;
Gilissen, Christian;
Einarsen, Ingunn Holm;
Bjørndalen, Hilde J.;
Server, Andrés;
Corominas, Jordi;
Hassel, Bjørnar;
Fannemel, Madeleine;
Misceo, Doriana;
Frengen, Eirik

Publication type:

Article

Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0962-0

By:

Bui, Thi Phuong Hoa;
Nguyen, Ngoc Tu;
Ngo, Van Doan;
Nguyen, Hoai-Nghia;
Ly, Thi Thanh Ha;
Do, Huy Duong;
Huynh, Minh-Tuan

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: 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

Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review.

Published in:

2020

By:

Niceta, Marcello;
Dentici, Maria Lisa;
Ciolfi, Andrea;
Marini, Romana;
Barresi, Sabina;
Lepri, Francesca Romana;
Novelli, Antonio;
Bertini, Enrico;
Cappa, Marco;
Digilio, Maria Cristina;
Dallapiccola, Bruno;
Tartaglia, Marco

Publication type:

journal 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

Dental Management of a Child with Joubert Syndrome.

Published in:

Iranian Journal of Child Neurology, 2022, v. 16, n. 2, p. 137, doi. 10.22037/ijcn.v16i2.28713

By:

RAFATJOU, Rezvan;
TORKAMAN, Sima;
DANESHYAR, Fahimeh

Publication type:

Article

Joubert Syndrome with Variable Features: Presentation of Two Cases.

Published in:

Iranian Journal of Child Neurology, 2013, v. 7, n. 2, p. 43

By:

BARZEGAR, Mohammad;
MALAKI, Majid;
SADEGI-HOKMABADI, Elyar

Publication type:

Article

Joubert Syndrome in Three Children in A Family: A Case Series.

Published in:

Iranian Journal of Child Neurology, 2013, v. 7, n. 1, p. 41

By:

AKHONDIAN, Javad;
ASHRAFZADEH, Farah;
BEIRAGHI TOOSI, Mehran;
MOAZEN, Nasrin;
MOHAMMADPOOR, Toktam;
KARAMI, Reza

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

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

A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report.

Published in:

2015

By:

Chafai-Elalaoui, Siham;
Chalon, Matthias;
Elkhartoufi, Nadia;
Kriouele, Yamna;
Mansouri, Maria;
Attié-Bitach, Tania;
Sefiani, Abdelaziz;
Baala, Lekbir

Publication type:

journal 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

Exome sequencing confirms the clinical diagnosis of both joubert syndrome and klinefelter syndrome with keratoconus in a han Chinese family.

Published in:

Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1417584

By:

Xinhe Fang;
Meijiao Ma;
Weining Rong;
Yuan-Yuan Lian;
Xueli Wu;
Yongying Gao;
Hui-Ping Li;
Xunlun Sheng

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

Uncertain significance and molecular insights of CPLANE1 variants in prenatal diagnosis of Joubert syndrome: a case report.

Published in:

BMC Pregnancy & Childbirth, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12884-024-07052-3

By:

Li, Si-Xiu;
Chen, Leiting;
Deng, Chen;
Tang, Dongmei;
Zhang, Jing;
Hu, Wen-Guang;
Hu, Yu;
Lai, Hua;
Yang, Xiao

Publication type:

Article

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

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

Joubert syndrome: A classic case.

Published in:: Journal of Family Medicine & Primary Care, 2019, v. 8, n. 1, p. 311, doi. 10.4103/jfmpc.jfmpc_165_18
Publication type:: Article

Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-72

By:

Romani, Marta;
Micalizzi, Alessia;
Kraoua, Ichraf;
Dotti, Maria Teresa;
Cavallin, Mara;
Sztriha, László;
Ruta, Rosario;
Mancini, Francesca;
Mazza, Tommaso;
Castellana, Stefano;
Hanene, Benrhouma;
Carluccio, Maria Alessandra;
Darra, Francesca;
Máté, Adrienn;
Zimmermann, Alíz;
Gouider-Khouja, Neziha;
Valente, Enza Maria

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: Reports of Two Cases.

Published in:

Journal of Bangladesh College of Physicians & Surgeons, 2021, v. 39, n. 2, p. 132, doi. 10.3329/jbcps.v39i2.52393

By:

KUNDU, G. K.;
PAUL, B. C.;
PODDAR, K. M.

Publication type:

Article

Joubert Syndrome with Orofacial Digital Features.

Published in:

Journal of Neurosciences in Rural Practice, 2018, v. 9, n. 1, p. 152, doi. 10.4103/jnrp.jnrp_338_17

By:

Bhardwaj, Parveen;
Sharma, Minoo;
Ahluwalia, Karan

Publication type:

Article

A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome.

Published in:

Public Health Genomics, 2017, v. 20, n. 3, p. 188, doi. 10.1159/000477560

By:

Dehghani, MohammadReza;
Mojarad, Majid;
Ghayoor Karimiani, Ehsan;
Vahidi Mehrjardi, Mohammad Yahya;
Sahebalzamani, afsaneh;
ashrafzadeh, Farah;
Beiraghi Toosi, Mehran;
Eslahi, atiyeh;
ahangari, Najmeh;
Yassini, Seyed Mojtaba;
Hassanbeigi, afsaneh;
Rasti, azam;
Kalantar, Seyed Mehdi;
Maroofian, Reza

Publication type:

Article

A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome.

Published in:

Public Health Genomics, 2017, v. 20, n. 2, p. 188, doi. 10.1159/000477560

By:

Dehghani, MohammadReza;
Mojarad, Majid;
Karimiani, Ehsan Ghayoor;
Mehrjardi, Mohammad Yahya Vahidi;
Sahebalzamani, Afsaneh;
Ashrafzadeh, Farah;
Toosi, Mehran Beiraghi;
Eslahi, Atiyeh;
Ahangari, Najmeh;
Yassini, Seyed Mojtaba;
Hassanbeigi, Afsaneh;
Rasti, Azam;
Kalantar, Seyed Mehdi;
Maroofian, Reza

Publication type:

Article