Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 13 (of 13 Records) |
Query Trace: Cerebellar Hypoplasia[original query] |
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Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia. Neurology 2005 Nov 65 (9): 1364-9. Zanni G, Saillour Y, Nagara M, Billuart P, Castelnau L, Moraine C, Faivre L, Bertini E, Durr A, Guichet A, Rodriguez D, des Portes V, Beldjord C, Chelly |
POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study. Neuromuscular disorders : NMD 2008 Jul 18 (7): 565-71. Messina S, Mora M, Pegoraro E, Pini A, Mongini T, D'Amico A, Pane M, Aiello C, Bruno C, Biancheri R, Berardinelli A, Boito C, Farina L, Morandi L, Moroni I, Pezzani R, Pichiecchio A, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan C P, Uggetti C, Santorelli F M, Bertini E, Mercuri |
Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly. Clinical genetics 2008 Nov 74 (5): 425-33. Morris-Rosendahl D J, Najm J, Lachmeijer A M A, Sztriha L, Martins M, Kuechler A, Haug V, Zeschnigk C, Martin P, Santos M, Vasconcelos C, Omran H, Kraus U, Van der Knaap M S, Schuierer G, Kutsche K, Uyanik |
Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities. Diabetes 2010 Sep 59 (9): 2326-31. Rubio-Cabezas Oscar, Minton Jayne A L, Kantor Iren, Williams Denise, Ellard Sian, Hattersley Andrew |
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. PLoS genetics 2013 9 (10): e1003823. Sajan Samin A, Fernandez Liliana, Nieh Sahar Esmaeeli, Rider Eric, Bukshpun Polina, Wakahiro Mari, Christian Susan L, Rivière Jean-Baptiste, Sullivan Christopher T, Sudi Jyotsna, Herriges Michael J, Paciorkowski Alexander R, Barkovich A James, Glessner Joseph T, Millen Kathleen J, Hakonarson Hakon, Dobyns William B, Sherr Elliott |
Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH). PloS one 2017 8 12 (8): e0181791. Hayashi Shin, Uehara Daniela Tiaki, Tanimoto Kousuke, Mizuno Seiji, Chinen Yasutsugu, Fukumura Shinobu, Takanashi Jun-Ichi, Osaka Hitoshi, Okamoto Nobuhiko, Inazawa Joh |
Right-sided aortic arch in the age of microarray. Prenatal diagnosis 2017 Feb . O'Mahony Edward F, Hutchinson Darren P, McGillivray George, Nisbet Debbie L, Palma-Dias Ricar |
A Missense De Novo Variant in the CASK-interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia. Neuropediatrics 2021 4 52 (6): 484-488. Ciaccio Claudia, Leonardi Emanuela, Polli Roberta, Murgia Alessandra, D'Arrigo Stefano, Granocchio Elisa, Chiapparini Luisa, Pantaleoni Chiara, Esposito Silv |
Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene. Neurogenetics 2021 Nov . Rinaldi Berardo, Ge Yu-Han, Freri Elena, Tucci Arianna, Granata Tiziana, Estienne Margherita, Sun Jia-Hui, Gérard Bénédicte, Bayat Allan, Efthymiou Stephanie, Gervasini Cristina, Shi Yun Stone, Houlden Henry, Marchisio Paola, Milani Donatel |
Clinical, radiological, and genetic variation in pontocerebellar hypoplasia disorder and our clinical experience. Italian journal of pediatrics 2022 9 48 (1): 169. Bilge Serap, Mert Gülen Gül, Hergüner Özlem, Özcanyüz Duygu, Bozdo?an Sevcan Tu?, Kaya Ömer, Haval? Ceng |
KIRREL3-related disorders: a case report confirming the radiological features and expanding the clinical spectrum to a less severe phenotype. Italian journal of pediatrics 2023 8 49 (1): 99. Andrea Querzani, Fabio Sirchia, Gianluca Rustioni, Alessandra Rossi, Alessandro Orsini, Gian Luigi Marseglia, Salvatore Savasta, Luisa Chiapparini, Thomas Foiadel |
Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy. International journal of molecular sciences 2023 11 24 (22): . Dolores Martínez-Rubio, Isabel Hinarejos, Herminia Argente-Escrig, Clara Marco-Marín, María Ana Lozano, Nerea Gorría-Redondo, Vincenzo Lupo, Itxaso Martí-Carrera, Concepción Miranda, María Vázquez-López, Asunción García-Pérez, Ana Victoria Marco-Hernández, Miguel Tomás-Vila, Sergio Aguilera-Albesa, Carmen Espin |
Lissencephaly With Cerebellar Hypoplasia Due To a New RELN Mutation. Pediatric neurology 2023 10 149 137-140. Liliana Igreja, Catarina Menezes, Pedro S Pinto, João Parente Freixo, Rui Chor |
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