| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Lucas da Costa Dutra, Sara Vilar Dantas Simões, Ricardo Barbosa de Lucena, Jefferson Filgueira Alcindo, Gildenor X Medeiros, Brian A Summers, Franklin Riet-Corre. Hereditary pontine and extrapontine brain malformations in Brazilian Tabapuã cattle. Veterinary pathology. 2024-12-07. PMID:39644155. |
these tabapuã calves share features of pontocerebellar hypoplasia (pch), a human malformation, in which the pons and the cerebellum are most severely affected with impaired growth of other parts of the brain leading eventually to microcephaly. |
2024-12-07 |
2024-12-10 |
human |
| Katherine A Inskeep, Bryan Crase, Thamara Dayarathna, Rolf W Stottman. SMPD4 mediated sphingolipid metabolism regulates brain and primary cilia development. Development (Cambridge, England). 2024-10-29. PMID:39470011. |
these patients have severe developmental brain malformations including microcephaly and cerebellar hypoplasia. |
2024-10-29 |
2024-10-31 |
mouse |
| C Kratochwila, L Pomar, S Lebon, C Gengler, D C Pavlidou, J-M Good, C Kumps, J Sichiti. Prenatal Diagnosis of Warsaw Breakage Syndrome: Fetal Compound Heterozygous Variants in the DDX11 Gene Associated With Growth Restriction, Cerebral, and Extra-Cerebral Malformations. Prenatal diagnosis. 2024-10-20. PMID:39428552. |
we report a case of prenatal diagnosis of wabs in a 24-week gestation fetus exhibiting microcephaly, delayed sulcation, short corpus callosum, cerebellar vermis hypoplasia and intrahepatic portal-systemic shunts. |
2024-10-20 |
2024-10-23 |
Not clear |
| Karina C Silveira, Anastasia Ambrose, Taryn Athey, Sherryl Taylor, Saadet Mercimek-Andrews, Peter Kann. Dissecting CASK: Novel splice site variant associated with male MICPCH phenotype. Clinical genetics. 2024-08-30. PMID:39212003. |
pathogenic variants of cask are known to cause several neurodevelopmental disorders, including x-linked intellectual disability and microcephaly with pontine and cerebellar hypoplasia (micpch). |
2024-08-30 |
2024-09-04 |
Not clear |
| Golan Nadav, Marwan Odeh, Aviv Mesika, Yael Abarbanel Har-Tal, Moshe Goldfeld, Tania Zalatkin, Alejandro Livoff, Raghad Jeris Khoury, Inshirah Sgayer, Liat Ben-Sira, Limor Kalfon, Tzipora C Falik-Zacca. Novel fetal phenotype of TAF8 deficiency. European journal of human genetics : EJHG. 2024-08-21. PMID:39169228. |
pre-natal ultrasound performed in four pregnancies revealed massive cerebellar atrophy, microcephaly, cerebral and corpus callosum (cc) anomalies. |
2024-08-21 |
2024-08-24 |
mouse |
| Guochao Yang, Yinghong Yang, Zhihong Song, Liping Chen, Fengjiao Liu, Ying Li, Shaofei Jiang, Saisai Xue, Jie Pei, Yan Wu, Yuanlin He, Bo Chu, Haitao W. Spliceosomal GTPase Eftud2 deficiency-triggered ferroptosis leads to Purkinje cell degeneration. Neuron. 2024-08-17. PMID:39153477. |
spliceosomal gtpase elongation factor tu gtp binding domain containing 2 (eftud2) is a causative gene for mandibulofacial dysostosis with microcephaly (mfdm) syndrome comprising cerebellar hypoplasia and motor dysfunction. |
2024-08-17 |
2024-08-20 |
mouse |
| Theresa Kagermeier, Stefan Hauser, Kseniia Sarieva, Lucia Laugwitz, Samuel Groeschel, Wibke G Janzarik, Zeynep Yentür, Katharina Becker, Ludger Schöls, Ingeborg Krägeloh-Mann, Simone Maye. Human organoid model of pontocerebellar hypoplasia 2a recapitulates brain region-specific size differences. Disease models & mechanisms. vol 17. issue 7. 2024-07-22. PMID:39034883. |
its anatomical hallmark is hypoplasia of the cerebellum and pons accompanied by progressive microcephaly. |
2024-07-22 |
2024-07-24 |
human |
| Alessia Mammi, Alessandro Geroldi, Serena Patrone, Fabio Gotta, Paola Origone, Andrea Gaudio, Andrea La Barbera, Francesca Sanguineri, Clarissa Ponti, Michele Iacomino, Monica Traverso, Edoardo Ferlazzo, Angelo Schenone, Angelo Pascarella, Oreste Marsico, Paola Mandich, Emilia Bellon. The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family. Journal of the peripheral nervous system : JPNS. 2024-06-14. PMID:38874107. |
various additional features may be included, such as peripheral neuropathy, facial dysmorphism, hypothyroidism, hepatic fibrosis, postnatal microcephaly, cerebellar atrophy, and epilepsy. |
2024-06-14 |
2024-06-16 |
Not clear |
| Jack Tellerday, Jennifer Black, Donald C Schuessler, Nienke P Dosa, Wendy Alcaraz, Robert Roger Lebe. CASK pathogenic variant which expands the clinical spectrum for MICPCH syndrome in an adult patient. American journal of medical genetics. Part A. 2024-05-24. PMID:38785278. |
the cask gene and its product protein kinase have been associated with microcephaly with pontine and cerebellar hypoplasia (micpch) syndrome and various other neurodevelopmental disorders. |
2024-05-24 |
2024-05-27 |
Not clear |
| Jorge Román Corona-Rivera, Iván Martínez-Duncker, Eva Morava, Wasantha Ranatunga, Roberta Salinas-Marin, Ana María González-Jaimes, Katia Alejandra Castillo-Reyes, Christian Peña-Padilla, Lucina Bobadilla-Morales, Alfredo Corona-Rivera, Mireya Orozco-Vela, Sinhue Alejandro Brukman-Jiméne. TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patient. Molecular genetics and metabolism. vol 142. issue 1. 2024-04-02. PMID:38564972. |
they present two main phenotypes, one with a slowly progressive lgmd with or without gdd/id (n = 12), and another with systemic involvement characterized by short stature, gdd/id, microcephaly, hypotonia, poor speech, seizures, cerebral atrophy, cerebellar abnormalities, movement disorder, scoliosis, liver disease, and cataracts (n = 42). |
2024-04-02 |
2024-04-05 |
Not clear |
| Laurine Gonzalez, Catherine Sébrié, Serge Laroche, Cyrille Vaillend, Roseline Poirie. Delayed postnatal brain development and ontogenesis of behavior and cognition in a mouse model of intellectual disability. Neurobiology of disease. 2023-06-03. PMID:37270162. |
while rsk2-knockout mice were born healthy, a longitudinal mri study revealed a transient secondary microcephaly and a persistent reduction of hippocampal and cerebellar volumes. |
2023-06-03 |
2023-08-14 |
mouse |
| Qi Guo, Emi Kouyama-Suzuki, Yoshinori Shirai, Xueshan Cao, Toru Yanagawa, Takuma Mori, Katsuhiko Tabuch. Structural Analysis Implicates CASK-Liprin-α2 Interaction in Cerebellar Granular Cell Death in MICPCH Syndrome. Cells. vol 12. issue 8. 2023-05-16. PMID:37190086. |
microcephaly with pontine and cerebellar hypoplasia (micpch) syndrome is a neurodevelopmental disorder caused by the deficiency of the x-chromosomal gene cask. |
2023-05-16 |
2023-08-14 |
mouse |
| María Elena Rodríguez-García, Francisco Javier Cotrina-Vinagre, María Teresa Sánchez-Calvin, Ana Martínez de Aragón, Rogelio Simón de Las Heras, Jonathan D Dinman, Bert B A de Vries, Maria João Nabais Sá, Pilar Quijada-Fraile, Francisco Martínez-Azorí. A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2. Journal of human genetics. 2023-04-18. PMID:37072624. |
we report a 9-year-old spanish boy with severe psychomotor developmental delay, short stature, microcephaly and abnormalities of the brain morphology, including cerebellar atrophy. |
2023-04-18 |
2023-08-14 |
Not clear |
| María Elena Rodríguez-García, Francisco Javier Cotrina-Vinagre, María Teresa Sánchez-Calvin, Ana Martínez de Aragón, Rogelio Simón de Las Heras, Jonathan D Dinman, Bert B A de Vries, Maria João Nabais Sá, Pilar Quijada-Fraile, Francisco Martínez-Azorí. A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2. Journal of human genetics. 2023-04-18. PMID:37072624. |
pathogenic variants in cask have been associated with severe neurological disorders such as mental retardation with or without nystagmus also called fg syndrome 4 (fgs4), and intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia (micpch). |
2023-04-18 |
2023-08-14 |
Not clear |
| Na Qi, Ke Yang, Xingxing Lei, Fengyang Wang, Dong Wu, Yue Gao, Yuwei Zhang, Shixiu Lia. [Clinical and genetic analysis of two children with intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 40. issue 4. 2023-03-27. PMID:36972933. |
[clinical and genetic analysis of two children with intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia]. |
2023-03-27 |
2023-08-14 |
Not clear |
| Na Qi, Ke Yang, Xingxing Lei, Fengyang Wang, Dong Wu, Yue Gao, Yuwei Zhang, Shixiu Lia. [Clinical and genetic analysis of two children with intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 40. issue 4. 2023-03-27. PMID:36972933. |
to explore the clinical features and genetic etiology of two children with intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia (micpch). |
2023-03-27 |
2023-08-14 |
Not clear |
| M S Ananthakrishna Tantry, Kirankumar Santhakuma. Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development. Molecular neurobiology. 2023-03-21. PMID:36943622. |
recently, mutations in tubulin isotypes (tuba1a, tubb, tubb1, tubb2a, tubb2b, tubb3, and tubg1) have been linked to cause various neurodevelopmental defects like lissencephaly, microcephaly, cortical dysplasia, polymicrogyria, schizencephaly, subcortical band heterotopia, periventricular heterotopia, corpus callosum agenesis, and cerebellar hypoplasia. |
2023-03-21 |
2023-08-14 |
Not clear |
| Mona Massoud, Maude Chollet, Sara Cabet, Marine Butin, Yahia Mekki, Geneviève Lina-Granade, Axel Fichez, Jocelyne Attia, Dorothée Ville, Laurent Guibau. PREDICTING OUTCOME OF CONGENITAL CYTOMEGALOVIRUS INFECTION BY DIFFERENTIATING AND REVISITING SEVERE VERSUS MILD PRENATAL IMAGING FEATURES. Fetal diagnosis and therapy. 2023-01-24. PMID:36693325. |
among prenatal imaging features, microcephaly, cortical disorder and cerebellar hypoplasia as well as severe iugr and fetal hydrops were considered as severe imaging features (sf). |
2023-01-24 |
2023-08-14 |
Not clear |
| Laura Hecher, Frederike L Harms, Jasmin Lisfeld, Malik Alawi, Jonas Denecke, Kerstin Kutsch. INPP4A-related genetic and phenotypic spectrum and functional relevance of subcellular targeting of INPP4A isoforms. Neurogenetics. 2023-01-18. PMID:36653678. |
biallelic inpp4a truncating variants cause a spectrum of neurodevelopmental disorders ranging from moderate intellectual disability to postnatal microcephaly with developmental and epileptic encephalopathy and (ponto)cerebellar hypoplasia. |
2023-01-18 |
2023-08-14 |
Not clear |
| Masamune Sakamoto, Toshihide Shiiki, Shuji Matsui, Nobuhiko Okamoto, Eriko Koshimizu, Naomi Tsuchida, Yuri Uchiyama, Kohei Hamanaka, Atsushi Fujita, Satoko Miyatake, Kazuharu Misawa, Takeshi Mizuguchi, Naomichi Matsumot. A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8. Journal of human genetics. 2022-12-12. PMID:36509868. |
its clinical presentation includes severe development delay, increased muscle tone, microcephaly, and magnetic resonance imaging (mri) abnormalities such as reduced cerebral white matter, a thin corpus callosum, and brainstem and cerebellar hypoplasia. |
2022-12-12 |
2023-08-14 |
Not clear |