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ArticlesPeer ReviewedFull Text
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome
Author / Creator:Sanders, Anna A W M ; de Vrieze, Erik ; Alazami, Anas M ; Alzahrani, Fatema ; Malarkey, Erik B ; Sorusch, Nasrin ; Tebbe, Lars ; Kuhns, Stefanie ; van Dam, Teunis J P ; Alhashem, Amal ; Tabarki, Brahim ; Lu, Qianhao ; Lambacher, Nils J ; Kennedy, Julie E ; Bowie, Rachel V ; Hetterschijt, Lisette ; van Beersum, Sylvia ; van Reeuwijk, Jeroen ; Boldt, Karsten ; Kremer, Hannie ; Kesterson, Robert A ; Monies, Dorota ; Abouelhoda, Mohamed ; Roepman, Ronald ; Huynen, Martijn H ; Ueffing, Marius ; Russell, Rob B ; Wolfrum, Uwe ; Yoder, Bradley K ; van Wijk, Erwin ; Alkuraya, Fowzan S ; Blacque, Oliver E
Publisher:England: BioMed Central Ltd
Journal title:Genome Biology, 2015-12, Vol.16 (1), p.293-293, Article 293
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ArticlesPeer ReviewedFull Text
Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome
Author / Creator:Roosing, Susanne ; Rosti, Rasim O. ; Rosti, Basak ; de Vrieze, Erik ; Silhavy, Jennifer L. ; van Wijk, Erwin ; Wakeling, Emma ; Gleeson, Joseph G.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2016-08, Vol.135 (8), p.919-921
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ArticlesPeer ReviewedFull Text
Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556
Author / Creator:Cauley, Edmund S. ; Hamed, Ahlam ; Mohamed, Inaam N. ; Elseed, Maha ; Martinez, Samantha ; Yahia, Ashraf ; Abozar, Fatima ; Abubakr, Rayan ; Koko, Mahmoud ; Elsayed, Liena ; Piao, Xianhua ; Salih, Mustafa A. ; Manzini, M. Chiara
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Neurogenetics, 2019-05, Vol.20 (2), p.91-98
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ArticlesPeer ReviewedFull Text
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
Author / Creator: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
Publisher:England: BioMed Central Ltd
Journal title:BMC pediatrics, 2020-03, Vol.20 (1), p.120-120, Article 120
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ArticlesFull Text
Investigators at Yokohama City University Describe Findings in Hamartomas (Pathogenic Variants of Dync2h1, Kiaa0556, and Ptpn11 Associated With Hypothalamic Hamartoma)
Publisher:NewsRX LLC
Journal title:Obesity, fitness, & wellness week, 2019-09, p.2348
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ReportsFull Text
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
Author / Creator: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
Publisher:BioMed Central Ltd
Journal title:BMC Pediatrics, 2020, Vol.20 (1)
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ArticlesFull Text
Investigators from Rockefeller University Release New Data on Joubert Syndrome (Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome)
Publisher:NewsRX LLC
Journal title:Obesity, fitness, & wellness week, 2016-10, p.867
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Newsletter articlesFull Text
Hamartomas; Investigators at Yokohama City University Describe Findings in Hamartomas (Pathogenic Variants of Dync2h1, Kiaa0556, and Ptpn11 Associated With Hypothalamic Hamartoma)
Publisher:Atlanta: NewsRx
Journal title:Genomics & Genetics Weekly, 2019, p.2348
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Newsletter articlesFull Text
Pituitary Gland Diseases and Conditions - Growth Hormone Deficiency; New Growth Hormone Deficiency Research Reported from Institute for Cancer Research and Treatment (IRCCS) (Co-occurrence of mutation...
Publisher:Atlanta: NewsRx
Journal title:Genomics & Genetics Weekly, 2020, p.3308
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Newsletter articlesFull Text
Researchers from George Washington University Report Findings in Joubert Syndrome (Overlap of Polymicrogyria, Hydrocephalus, and Joubert Syndrome In a Family With Novel Truncating Mutations In Adgrg1/...
Publisher:NewsRX LLC
Journal title:Health & Medicine Week, 2019, p.6022
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Newsletter articlesFull Text
Cytoskeleton; New Findings from Alfaisal University in the Area of Cytoskeleton Reported (KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome)
Publisher:Atlanta: NewsRx
Journal title:Life Science Weekly, 2016, p.2221
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Newsletter articlesFull Text
Central Nervous System Diseases and Conditions - Joubert Syndrome; Investigators from Rockefeller University Release New Data on Joubert Syndrome (Identification of a homozygous nonsense mutation in K...
Publisher:Atlanta: NewsRx
Journal title:Obesity, Fitness & Wellness Week, 2016, p.867
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ArticlesPeer ReviewedFull Text
Autozygome and high throughput confirmation of disease genes candidacy
Author / Creator:Maddirevula, Sateesh ; Alzahrani, Fatema ; Al-Owain, Mohammed ; Al Muhaizea, Mohammad A. ; Kayyali, Husam R. ; AlHashem, Amal ; Rahbeeni, Zuhair ; Al-Otaibi, Maha ; Alzaidan, Hamad I. ; Balobaid, Ameera ; El Khashab, Heba Y. ; Bubshait, Dalal K. ; Faden, Maha ; Yamani, Suad Al ; Dabbagh, Omar ; Al-Mureikhi, Mariam ; Jasser, Abdulla Al ; Alsaif, Hessa S. ; Alluhaydan, Iram ; Seidahmed, Mohammed Zain ; Alabbasi, Bashair Hamza ; Almogarri, Ibrahim ; Kurdi, Wesam ; Akleh, Hana ; Qari, Alya ; Al Tala, Saeed M. ; Alhomaidi, Suzan ; Kentab, Amal Y. ; Salih, Mustafa A. ; Chedrawi, Aziza ; Alameer, Seham ; Tabarki, Brahim ; Shamseldin, Hanan E. ; Patel, Nisha ; Ibrahim, Niema ; Abdulwahab, Firdous ; Samira, Menasria ; Goljan, Ewa ; Abouelhoda, Mohamed ; Meyer, Brian F. ; Hashem, Mais ; Shaheen, Ranad ; AlShahwan, Saad ; Alfadhel, Majid ; Ben-Omran, Tawfeg ; Al-Qattan, Mohammad M. ; Monies, Dorota ; Alkuraya, Fowzan S.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-03, Vol.21 (3), p.736-742
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ArticlesPeer ReviewedFull Text
Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia
Author / Creator:Zhang, Rong ; Gehlen, Jan ; Kawalia, Amit ; Melissari, Maria-Theodora ; Dakal, Tikam Chand ; Menon, Athira M ; Höfele, Julia ; Riedhammer, Korbinian ; Waffenschmidt, Lea ; Fabian, Julia ; Breuer, Katinka ; Kalanithy, Jeshurun ; Hilger, Alina Christine ; Sharma, Amit ; Hölscher, Alice ; Boemers, Thomas M ; Pauly, Markus ; Leutner, Andreas ; Fuchs, Jörg ; Seitz, Guido ; Ludwikowski, Barbara M ; Gomez, Barbara ; Hubertus, Jochen ; Heydweiller, Andreas ; Kurz, Ralf ; Leonhardt, Johannes ; Kosch, Ferdinand ; Holland-Cunz, Stefan ; Münsterer, Oliver ; Ure, Beno ; Schmiedeke, Eberhard ; Neser, Jörg ; Degenhardt, Petra ; Märzheuser, Stefanie ; Kleine, Katharina ; Schäfer, Mattias ; Spychalski, Nicole ; Deffaa, Oliver J ; Gosemann, Jan-Hendrik ; Lacher, Martin ; Heilmann-Heimbach, Stefanie ; Zwink, Nadine ; Jenetzky, Ekkehart ; Ludwig, Michael ; Grote, Phillip ; Schumacher, Johannes ; Thiele, Holger ; Reutter, Heiko ; Santos-Cortez, Regie Lyn Pastor
Publisher:San Francisco: Public Library of Science
Journal title:PloS one, 2020-06, Vol.15 (6), p.e0234246-e0234246
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ArticlesPeer ReviewedFull Text
Pituitary stalk interruption syndrome is characterized by genetic heterogeneity
Author / Creator:Brauner, Raja ; Bignon-Topalovic, Joelle ; Bashamboo, Anu ; McElreavey, Ken
Publisher:United States: Public Library of Science
Journal title:PloS one, 2020-12, Vol.15 (12), p.e0242358-e0242358
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ArticlesPeer ReviewedFull Text
Non-additive QTL mapping of lactation traits in 124,000 cattle reveals novel recessive loci
Author / Creator:Reynolds, Edwardo G M ; Lopdell, Thomas ; Wang, Yu ; Tiplady, Kathryn M ; Harland, Chad S ; Johnson, Thomas J J ; Neeley, Catherine ; Carnie, Katie ; Sherlock, Richard G ; Couldrey, Christine ; Davis, Stephen R ; Harris, Bevin L ; Spelman, Richard J ; Garrick, Dorian J ; Littlejohn, Mathew D
Publisher:France: BioMed Central Ltd
Journal title:Genetics selection evolution (Paris), 2022-01, Vol.54 (1), p.5-5, Article 5
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ArticlesPeer ReviewedFull Text
Genetic aberrations in imatinib-resistant dermatofibrosarcoma protuberans revealed by whole genome sequencing
Author / Creator:Hong, Jung Yong ; Liu, Xiao ; Mao, Mao ; Li, Miao ; Choi, Dong Il ; Kang, Shin Woo ; Lee, Jeeyun ; La Choi, Yoon
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-07, Vol.8 (7), p.e69752-e69752
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ArticlesPeer ReviewedFull Text
Investigation of a novel cilia-related gene K04F10.2/KIAA0556 in C. elegans
Author / Creator:Sanders, A ; Cevik, S ; Kida, K ; Bowie, R ; Blacque, O
Publisher:BioMed Central Ltd
Journal title:Cilia (London), 2012-11, Vol.1 (S1), p.P43-P43, Article P43
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ArticlesPeer ReviewedFull Text
Altered Regulation of KIAA0566, and Katanin Signaling Expression in the Locus Coeruleus With Neurofibrillary Tangle Pathology
Author / Creator:Andrés-Benito, Pol ; Delgado-Morales, Raul ; Ferrer, Isidro
Publisher:Switzerland: Frontiers Research Foundation
Journal title:Frontiers in cellular neuroscience, 2018-05, Vol.12, p.131-131
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ArticlesPeer ReviewedFull Text
Whole-genome mate-pair sequencing of apparently balanced chromosome rearrangements reveals complex structural variations: two case studies
Author / Creator:Tan, Ya-Qi ; Tan, Yue-Qiu ; Cheng, De-Hua
Publisher:England: BioMed Central Ltd
Journal title:Molecular cytogenetics, 2020-05, Vol.13 (1), p.15-6, Article 15
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Showing 1 to 20 of 26 results

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KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome

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Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome

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Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556

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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

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Investigators at Yokohama City University Describe Findings in Hamartomas (Pathogenic Variants of Dync2h1, Kiaa0556, and Ptpn11 Associated With Hypothalamic Hamartoma)

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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

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Investigators from Rockefeller University Release New Data on Joubert Syndrome (Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome)

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Hamartomas; Investigators at Yokohama City University Describe Findings in Hamartomas (Pathogenic Variants of Dync2h1, Kiaa0556, and Ptpn11 Associated With Hypothalamic Hamartoma)

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Pituitary Gland Diseases and Conditions - Growth Hormone Deficiency; New Growth Hormone Deficiency Research Reported from Institute for Cancer Research and Treatment (IRCCS) (Co-occurrence of mutation...

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Researchers from George Washington University Report Findings in Joubert Syndrome (Overlap of Polymicrogyria, Hydrocephalus, and Joubert Syndrome In a Family With Novel Truncating Mutations In Adgrg1/...

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Cytoskeleton; New Findings from Alfaisal University in the Area of Cytoskeleton Reported (KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome)

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Central Nervous System Diseases and Conditions - Joubert Syndrome; Investigators from Rockefeller University Release New Data on Joubert Syndrome (Identification of a homozygous nonsense mutation in K...

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Autozygome and high throughput confirmation of disease genes candidacy

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Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia

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Pituitary stalk interruption syndrome is characterized by genetic heterogeneity

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Non-additive QTL mapping of lactation traits in 124,000 cattle reveals novel recessive loci

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Genetic aberrations in imatinib-resistant dermatofibrosarcoma protuberans revealed by whole genome sequencing

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Investigation of a novel cilia-related gene K04F10.2/KIAA0556 in C. elegans

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Altered Regulation of KIAA0566, and Katanin Signaling Expression in the Locus Coeruleus With Neurofibrillary Tangle Pathology

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Whole-genome mate-pair sequencing of apparently balanced chromosome rearrangements reveals complex structural variations: two case studies

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