Results 81 to 90 of about 19,788 (203)

Novel compound heterozygous variants in the CSPP1 gene causes Joubert syndrome: case report and literature review of the CSPP1 gene’s pathogenic mechanism

Frontiers in Pediatrics
Joubert syndrome (JS) is a rare autosomal recessive neurodevelopmental condition characterized by congenital mid-hindbrain abnormalities and a variety of clinical manifestations. This article describes a case of Joubert syndrome type 21 with microcephaly,
Caichuan Wei, Haiju Zhang, Miaoying Fu, Jingping Ye, Baozhen Yao   +4 more
doaj   +1 more source

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome [PDF]

, 2015
Defective primary ciliogenesis or cilium stability forms the basis of human ciliopathies, including Joubert syndrome (JS), with defective cerebellar vermis development.
Aza-Blac, P, Azam, M, Bertini, E, Boltshauser, E, Borgatti, R, Boustany, RM, Clericuzio, CL, Copeland, B, D Arrigo, S, Dobyns, WB, Dynlacht, BD, Emma, F, Freilinger, M, Gabriel, SB, Gleeson, JG, Heynen, SG, Hildebrandt, F, Hofree, M, Ideker, T, İncecik, F, Johnson, CA, Kim, J, Kim, S, Lee, JE, Mazza, T, Miccinilli, E, Mikati, M, Milisa-Drautz, J, Mirabelli-Badenier, M, Moroni, I, Romani, M, Romaniello, R, Roosing, S, Rosti, RO, Schroth, J, Scott, E, Silhavy, JL, Stanzial, F, Steinlin, M, Strømme, P, Swoboda, KJ, Valente, EM, Valente, EM, Vaux, KK, Zaki, MS   +44 more
core   +7 more sources

Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens, Maria Mudau, Fahmida Essop, Amanda Krause   +3 more
wiley   +1 more source

A Genetic Landscape of Euploid Miscarriages From Couples With Recurrent Pregnancy Loss Through Whole Exome Sequencing

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
Whole exome sequencing analysis on 55 couples and miscarriages from their current pregnancies reveals a significant heterogeneity and complexity in exomic variants contributing to RPL. ABSTRACT Background This study aimed to identify candidate genes for recurrent pregnancy loss (RPL).
Fanjuan Kong, Zhaochu Yin, Haiyan Zhou, Zhiyu Liu, Wanqin Xie   +4 more
wiley   +1 more source

Joubert Syndrome, A Ciliopathy

Pediatric Neurology Briefs, 2013
Investigators at Neurogenetics Unit, Mendel Laboratory, Rome, and University of Salerno, Italy, review the clinical features and genetic basis of Joubert syndrome, overlap with other ciliopathies, and the multifaceted roles of primary cilia in CNS ...
J Gordon Millichap
doaj   +1 more source

Uner Tan Syndrome: History, Clinical Evaluations, Genetics, and the\ud Dynamics of Human Quadrupedalism [PDF]

, 2010
: This review includes for the first time a dynamical systems analysis of human quadrupedalism in Uner Tan syndrome, which is characterized by habitual quadrupedalism, impaired intelligence, and rudimentary speech.
Tan, Prof. Dr. Uner
core  

A novel Cep120-dependent mechanism inhibits centriole maturation in quiescent cells [PDF]

, 2018
The two centrioles of the centrosome in quiescent cells are inherently asymmetric structures that differ in age, morphology and function. How these asymmetric properties are established and maintained during quiescence remains unknown. Here, we show that
Betleja, Ewelina, Cheng, Tao, Mahjoub, Moe R, Nanjundappa, Rashmi   +3 more
core   +2 more sources

Feeding Management of African Rhinos (Ceratotherium simum, Diceros bicornis) in European Zoos

Zoo Biology, Volume 45, Issue 2, Page 109-123, March/April 2026.
The average estimated diets (in % dry matter) of white rhinos (C. simum) and black rhinos (D. bicornis) in European zoos differ in the proportion of (pelleted) compound feed and other non‐forage items. The reason for this difference is elusive but possibly related to creating more complicated diets for browsers. ABSTRACT White rhinos (WR, Ceratotherium
Gila Sauspeter, Marcus Clauss, Sylvia Ortmann, Andrew J. Abraham, Rebecca Biddle, Lars Versteege, Marcin Przybyło   +6 more
wiley   +1 more source

Joubert syndrome [PDF]

Kidney International, 2008
Sampathkumar, Krishnaswamy, Sooraj, Yesudas Santhakumari, Karunakaran, Narayanan, Ganesh, Rajagopal, Mahaldar, Amol Ramesh   +4 more
openaire   +3 more sources

Characterizing the morbid genome of ciliopathies [PDF]

, 2016
Background Ciliopathies are clinically diverse disorders of the primary cilium. Remarkable progress has been made in understanding the molecular basis of these genetically heterogeneous conditions; however, our knowledge of their morbid genome ...
A Poretti, AM Fry, AM Waters, Amal Al Hashem, Anas M. Alazami, Anason Halees, Andre Megarbane, Basudha Basu, Brahim Tabarki, C Bergmann, C Knopp, C Wright, CJ Westlake, Clare V. Logan, Colin A. Johnson, DA Parfitt, David A. Parry, Dorota Monies, DU Mick, Eissa Faqeih, F Tissir, Firdous M. Abdulwahab, Fowzan S. Alkuraya, FS Alkuraya, FS Alkuraya, FS Alkuraya, G Wheway, Hadeel Alsharif, Heba Morsy, Hisham Alkuraya, K Szymanska, Karsten Boldt, Katarzyna Szymanska, KB Schou, KL Coene, L Abu-Safieh, L Baala, L Sang, M Toriyama, MA Parisi, Maha Alnemer, Mais Hashem, Marius Ueffing, MG Saudi, MH Farkas, Mohamed Abouelhoda, Mohamed El-Kalioby, Mohammed A. Aldahmesh, Mohammed Al-Owain, Mohammed Zain Seidahmed, MS Zaki, Muneera Al-Husain, Mustafa A. Salih, MV Nachury, Nada Al Tassan, Nada Derar, Neama Meriki, Niema Ibrahim, Nisha Patel, Nour Ewida, P Beales, R Rao Damerla, R Roepman, R Shaheen, Ranad Shaheen, Rawda Sonbul, S Ramsbottom, Saad AlShahwan, Saeed Al Tala, SM Ware, SP Choksi, T Ben‐Omran, Tariq Faquih, TJ Dam van, Y Muto, ZA Abdelhamed   +75 more
core   +1 more source