| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Chen Jiang, Nan Gai, Yongyi Zou, Yu Zheng, Ruiyu Ma, Xianda Wei, Desheng Liang, Lingqian W. WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family. Clinica chimica acta; international journal of clinical chemistry. vol 464. 2017-02-08. PMID:27983999. |
our findings imply that microcephaly is a variable phenotype in wdr73-related disease, suggest wdr73 to be a candidate gene of severe intellectual disability and cerebellar hypoplasia, and expand the molecular spectrum of wdr73-related disease. |
2017-02-08 |
2023-08-13 |
Not clear |
| M Petroni, F Sardina, C Heil, M Sahún-Roncero, V Colicchia, V Veschi, S Albini, D Fruci, B Ricci, A Soriani, L Di Marcotullio, I Screpanti, A Gulino, G Giannin. The MRN complex is transcriptionally regulated by MYCN during neural cell proliferation to control replication stress. Cell death and differentiation. vol 23. issue 2. 2016-10-14. PMID:26068589. |
in particular, nbs1 gene mutations are associated with microcephaly and strongly impaired cerebellar development, both in humans and in the mouse model. |
2016-10-14 |
2023-08-13 |
mouse |
| Hülya Maraş-Genç, Emek Uyur-Yalçın, Rasim Özgür Rosti, Joseph G Gleeson, Bülent Kar. TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family. The Turkish journal of pediatrics. vol 57. issue 3. 2016-08-30. PMID:26701950. |
pch2 is the most common type, generally caused by homozygous mutations in the tsen54 gene and characterized by cerebellar hypoplasia that affects the hemispheres more severely than the vermis, progressive cerebral atrophy, microcephaly, dyskinesia, seizures and death in early childhood. |
2016-08-30 |
2023-08-13 |
Not clear |
| Nathalie Pirot, Marie Crahes, Homa Adle-Biassette, Anais Soares, Martine Bucourt, Audrey Boutron, Lionel Carbillon, Cyril Mignot, Laetitia Trestard, Soumeya Bekri, Annie Laquerrièr. Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase Deficiency. Journal of neuropathology and experimental neurology. vol 75. issue 3. 2016-07-06. PMID:26865159. |
neurodevelopmental abnormalities included microcephaly, migration abnormalities (pachygyria, polymicrogyria, periventricular nodular heterotopias), and cerebellar and brainstem hypoplasia with hypoplastic dentate nuclei and pyramidal tracts. |
2016-07-06 |
2023-08-13 |
Not clear |
| Tomoshi Nakajiri, Katsuhiro Kobayashi, Nobuhiko Okamoto, Makio Oka, Fuyuki Miya, Kenjiro Kosaki, Harumi Yoshinag. Late-onset epileptic spasms in a female patient with a CASK mutation. Brain & development. vol 37. issue 9. 2016-05-26. PMID:25765806. |
she has a phenotype of microcephaly with pontine and cerebellar hypoplasia (micpch), and has had intractable ess in clusters since 3 years 8 months of age with multifocal, particularly bifrontal, epileptic discharges in electroencephalogram. |
2016-05-26 |
2023-08-13 |
Not clear |
| A M Fedick, L Shi, C Jalas, N R Treff, J Ekstein, R Kornreich, L Edelmann, L Mehta, S A Savag. Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population. Clinical genetics. vol 88. issue 2. 2016-04-25. PMID:25047097. |
hoyeraal-hreidarsson syndrome (hh) is a clinically severe variant of dyskeratosis congenita (dc), characterized by cerebellar hypoplasia, microcephaly, intrauterine growth retardation, and severe immunodeficiency in addition to features of dc. |
2016-04-25 |
2023-08-13 |
Not clear |
| Julien Thevenon, Caroline Michot, Christine Bole, Patrick Nitschke, Mathilde Nizon, Laurence Faivre, Arnold Munnich, Stanislas Lyonnet, Jean-Paul Bonnefont, Vincent Des Portes, Jeanne Amie. RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability. American journal of medical genetics. Part A. vol 167A. issue 8. 2016-04-19. PMID:25846674. |
all patients presented apparent intellectual disability (4/4), psychomotor delay (4/4) with syndromic features including amniotic fluid excess (3/4), microcephaly (2/4), urogenital anomalies (3/4), cerebellar syndrome (2/4), and facial dysmorphism. |
2016-04-19 |
2023-08-13 |
Not clear |
| José Luiz Pedroso, Clarissa R R Rocha, Lucia I Macedo-Souza, Vitor De Mario, Wilson Marques, Orlando G P Barsottini, Acary S Bulle Oliveira, Carlos F M Menck, Fernando Ko. Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease. Neurology. Genetics. vol 1. issue 4. 2016-04-12. PMID:27066567. |
(1) according to a previous report, homozygous loss-of-function substitution in pnkp was associated with cerebellar atrophy, neuropathy, microcephaly, epilepsy, and intellectual disability. |
2016-04-12 |
2023-08-13 |
Not clear |
| Scott E Williams, Idoia Garcia, Andrew J Crowther, Shiyi Li, Alyssa Stewart, Hedi Liu, Kendall J Lough, Sean O'Neill, Katherine Veleta, Esteban A Oyarzabal, Joseph R Merrill, Yen-Yu Ian Shih, Timothy R Gersho. Aspm sustains postnatal cerebellar neurogenesis and medulloblastoma growth in mice. Development (Cambridge, England). vol 142. issue 22. 2016-03-04. PMID:26450969. |
here, we report that aspm, a gene that is mutated in familial microcephaly, regulates postnatal neurogenesis in the cerebellum and supports the growth of medulloblastoma, the most common malignant pediatric brain tumor. |
2016-03-04 |
2023-08-13 |
mouse |
| Ute Moog, Tatjana Bierhals, Kristina Brand, Jan Bautsch, Saskia Biskup, Thomas Brune, Jonas Denecke, Christine E de Die-Smulders, Christina Evers, Maja Hempel, Marco Henneke, Helger Yntema, Björn Menten, Joachim Pietz, Rolph Pfundt, Jörg Schmidtke, Doris Steinemann, Constance T Stumpel, Lionel Van Maldergem, Kerstin Kutsch. Phenotypic and molecular insights into CASK-related disorders in males. Orphanet journal of rare diseases. vol 10. 2016-02-29. PMID:25886057. |
heterozygous loss-of-function mutations in the x-linked cask gene cause progressive microcephaly with pontine and cerebellar hypoplasia (micpch) and severe intellectual disability (id) in females. |
2016-02-29 |
2023-08-13 |
Not clear |
| Eduardo P Mattos, André Anjos da Silva, José Antônio A Magalhães, Júlio César L Leite, Sandra Leistner-Segal, Rejane Gus-Kessler, Juliano Adams Perez, Leonardo M Vedolin, Albertina Torreblanca-Zanca, Pablo Lapunzina, Victor L Ruiz-Perez, Maria Teresa V Sanseverin. Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability. American journal of medical genetics. Part A. vol 167. issue 6. 2016-02-17. PMID:25913727. |
prenatally, serial us evaluations suggested symmetric growth restriction, microcephaly, hypoplasia of the cerebellar vermis, micrognathia, hydrops, shortened limbs, arthrogryposis, and talipes equinovarus. |
2016-02-17 |
2023-08-13 |
Not clear |
| Zejuan Li, Rhonda Schonberg, Lucia Guidugli, Amy Knight Johnson, Stephen Arnovitz, Sandra Yang, Joseph Scafidi, Marshall L Summar, Gilbert Vezina, Soma Das, Kimberly Chapman, Daniela del Gaudi. A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings. Journal of human genetics. vol 60. issue 7. 2016-01-20. PMID:25809939. |
pontocerebellar hypoplasia (pch) is characterized by hypoplasia and atrophy of the cerebellum, variable pontine atrophy, microcephaly, severe mental and motor impairments and seizures. |
2016-01-20 |
2023-08-13 |
Not clear |
| Leslie K Climer, Maxim Dobretsov, Vladimir Lupashi. Defects in the COG complex and COG-related trafficking regulators affect neuronal Golgi function. Frontiers in neuroscience. vol 9. 2015-11-20. PMID:26578865. |
a troublesome aspect of these diseases are the neurological pathologies such as low iq, microcephaly, and cerebellar atrophy. |
2015-11-20 |
2023-08-13 |
human |
| Kalpana Devadathan, Mini Sreedharan, Sanuja Sarasam, Roshan B Colah, P A Mohammed Kunj. Neurometabolic disorder with microcephaly, dystonia, and central cyanosis masquerading as cerebral palsy. Journal of child neurology. vol 29. issue 11. 2015-10-15. PMID:24413360. |
screening for methemoglobinemia in children with dystonia, microcephaly, and progressive cerebellar atrophy can be helpful in identifying more cases. |
2015-10-15 |
2023-08-12 |
Not clear |
| Guntram Borck, Friederike Hög, Maria Lisa Dentici, Perciliz L Tan, Nadine Sowada, Ana Medeira, Lucie Gueneau, Holger Thiele, Maria Kousi, Francesca Lepri, Larissa Wenzeck, Ian Blumenthal, Antonio Radicioni, Tito Livio Schwarzenberg, Barbara Mandriani, Rita Fischetto, Deborah J Morris-Rosendahl, Janine Altmüller, Alexandre Reymond, Peter Nürnberg, Giuseppe Merla, Bruno Dallapiccola, Nicholas Katsanis, Patrick Cramer, Christian Kubisc. BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies. Genome research. vol 25. issue 2. 2015-09-21. PMID:25561519. |
here we describe an autosomal recessive disorder characterized by cerebellar hypoplasia and intellectual disability, as well as facial dysmorphic features, short stature, microcephaly, and dental anomalies. |
2015-09-21 |
2023-08-13 |
zebrafish |
| Ruth Sheffer, Odeya Bennett-Back, Barak Yaacov, Simon Edvardson, Moshe Gomori, Marion Werner, Duha Fahham, Irene Anteby, Ayala Frumkin, Vardiella Meiner, Orly Elpele. Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene. Neurogenetics. vol 16. issue 1. 2015-08-27. PMID:25338135. |
using exome sequencing in a consanguineous family, we identified a homozygous genomic deletion of 1770 bp within the inpp4a gene in a patient with myoclonic epilepsy, microcephaly, and atrophy of the inferior vermis and cerebellum. |
2015-08-27 |
2023-08-13 |
mouse |
| Melissa N Burnside, Robert E Pyatt, Anna Hughes, Peter B Baker, Christopher R Pierso. Complex brain malformations associated with chromosome 6q27 gain that includes THBS2, which encodes thrombospondin 2, an astrocyte-derived protein of the extracellular matrix. Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. vol 18. issue 1. 2015-03-23. PMID:25299246. |
this case describes the autopsy findings of a 2-month-old male infant with extensive and severe developmental brain abnormalities, including microcephaly, neocortical neuronal layering abnormalities, leptomeningeal heterotopias, commissural agenesis, and cerebellar and brainstem hypoplasia. |
2015-03-23 |
2023-08-13 |
human |
| Pamela Magini, Tommaso Pippucci, I-Chun Tsai, Simona Coppola, Emilia Stellacci, Anna Bartoletti-Stella, Daniela Turchetti, Claudio Graziano, Giovanna Cenacchi, Iria Neri, Duccio Maria Cordelli, Valentina Marchiani, Rosalba Bergamaschi, Giuseppe Gasparre, Giovanni Neri, Laura Mazzanti, Annalisa Patrizi, Emilio Franzoni, Giovanni Romeo, Domenico Bordo, Marco Tartaglia, Nicholas Katsanis, Marco Ser. A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype. Human molecular genetics. vol 23. issue 13. 2015-01-26. PMID:24556213. |
linkage analysis in a three-generation family with affected males showing id, agenesis of corpus callosum, cerebellar hypoplasia, microcephaly and ichthyosis, revealed a candidate disease locus in xq21.33q24 encompassing over 280 genes. |
2015-01-26 |
2023-08-12 |
zebrafish |
| Anna C Thomas, Hywel Williams, Núria Setó-Salvia, Chiara Bacchelli, Dagan Jenkins, Mary O'Sullivan, Konstantinos Mengrelis, Miho Ishida, Louise Ocaka, Estelle Chanudet, Chela James, Francesco Lescai, Glenn Anderson, Deborah Morrogh, Mina Ryten, Andrew J Duncan, Yun Jin Pai, Jorge M Saraiva, Fabiana Ramos, Bernadette Farren, Dawn Saunders, Bertrand Vernay, Paul Gissen, Anna Straatmaan-Iwanowska, Frank Baas, Nicholas W Wood, Joshua Hersheson, Henry Houlden, Jane Hurst, Richard Scott, Maria Bitner-Glindzicz, Gudrun E Moore, Sérgio B Sousa, Philip Stanie. Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome. American journal of human genetics. vol 95. issue 5. 2015-01-26. PMID:25439728. |
intellectual disability and cerebellar atrophy occur together in a large number of genetic conditions and are frequently associated with microcephaly and/or epilepsy. |
2015-01-26 |
2023-08-13 |
Not clear |
| Yuko Adachi, Ganeshwaran Mochida, Christopher Walsh, James Barkovic. Posterior fossa in primary microcephaly: relationships between forebrain and mid-hindbrain size in 110 patients. Neuropediatrics. vol 45. issue 2. 2015-01-06. PMID:24234199. |
as genes are expressed at different times in cerebral and cerebellar development, it is postulated that analysis of relative cerebellar and brain stem size may be useful in the initial analysis of microcephaly by mr images both to categorize and to help determine likely genetic causes. |
2015-01-06 |
2023-08-12 |
Not clear |