| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| U Zollner, M Rehn, G Girschick, J Diet. [Sonographic abnormalities of the fetal CNS in the second trimester screening--clarifications according to the new maternity directives]. Zeitschrift fur Geburtshilfe und Neonatologie. vol 216. issue 1. 2012-09-06. PMID:22331522. |
in detail, anomalies of the head size (microcephaly, macrocephaly), of the head size (brachycephaly, dolichocephaly, cavities of the cranium, banana sign, etc.,), ventricular abnormalities, anomalies of the cerebellum (cerebellum hypoplasia, abnormal cerebellum shape) and abnormalities of the intermediate line and the intracerebral space requirements are discussed. |
2012-09-06 |
2023-08-12 |
Not clear |
| Emma Glamuzina, Ruth Brown, Kieran Hogarth, Dawn Saunders, Isabelle Russell-Eggitt, Matthew Pitt, Carlos de Sousa, Shamima Rahman, Garry Brown, Stephanie Grunewal. Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2. Journal of inherited metabolic disease. vol 35. issue 3. 2012-08-09. PMID:22086604. |
this case confirms that progressive cerebellar and cerebral atrophy with microcephaly and complex epilepsy are characteristic features of pch6. |
2012-08-09 |
2023-08-12 |
Not clear |
| C Xiang, V Baubet, S Pal, L Holderbaum, V Tatard, P Jiang, R V Davuluri, N Dahman. RP58/ZNF238 directly modulates proneurogenic gene levels and is required for neuronal differentiation and brain expansion. Cell death and differentiation. vol 19. issue 4. 2012-07-03. PMID:22095278. |
using a novel conditional rp58 allele here we show that its cns-specific loss yields a novel postnatal phenotype: microencephaly, agenesis of the corpus callosum and cerebellar hypoplasia that resembles the chr1qter deletion microcephaly syndrome in human. |
2012-07-03 |
2023-08-12 |
mouse |
| Kazuyuki Nakamura, Mitsuhiro Kato, Ayako Sasaki, Masayo Kanai, Kiyoshi Hayasak. Congenital dysplastic microcephaly and hypoplasia of the brainstem and cerebellum with diffuse intracranial calcification. Journal of child neurology. vol 27. issue 2. 2012-06-18. PMID:21940696. |
congenital dysplastic microcephaly and hypoplasia of the brainstem and cerebellum with diffuse intracranial calcification. |
2012-06-18 |
2023-08-12 |
Not clear |
| Scott C Smith, Andria R Robinson, Laura J Niedernhofer, Michal Hetma. Downregulation of cholesterol biosynthesis genes in the forebrain of ERCC1-deficient mice. Neurobiology of disease. vol 45. issue 3. 2012-06-07. PMID:22245387. |
several genetic defects of the nucleotide excision repair (ner) pathway, including deficiency of the excision repair cross-complementing rodent repair deficiency, complementation group 1 (ercc1), result in pre-mature aging, impaired growth, microcephaly and delayed development of the cerebellum. |
2012-06-07 |
2023-08-12 |
mouse |
| Yi-Yuan Huang, Huimei Lu, Stephany Liu, Roberto Droz-Rosario, Zhiyuan She. Requirement of mouse BCCIP for neural development and progenitor proliferation. PloS one. vol 7. issue 1. 2012-06-04. PMID:22292003. |
bccip deficiency impaired embryonic and postnatal neural development, causing severe ataxia, cerebral and cerebellar defects, and microcephaly. |
2012-06-04 |
2023-08-12 |
mouse |
| Maha S Zaki, Ghada M H Abdel Salam, Sahar N Saleem, William B Dobyns, Mahmoud Y Issa, Shifteh Sattar, Joseph G Gleeso. New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect. American journal of medical genetics. Part A. vol 155A. issue 12. 2012-04-30. PMID:22002884. |
new recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect. |
2012-04-30 |
2023-08-12 |
Not clear |
| Maha S Zaki, Ghada M H Abdel Salam, Sahar N Saleem, William B Dobyns, Mahmoud Y Issa, Shifteh Sattar, Joseph G Gleeso. New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect. American journal of medical genetics. Part A. vol 155A. issue 12. 2012-04-30. PMID:22002884. |
we identified a two-branch consanguineous family in which four affected members (three females and one male) presented with constitutive growth delay, severe psychomotor retardation, microcephaly, cerebellar hypoplasia, and second-degree heart block. |
2012-04-30 |
2023-08-12 |
Not clear |
| Ayelet Zerem, Chana Vinkler, Marina Michelson, Esther Leshinsky-Silver, Tally Lerman-Sagie, Dorit Le. Mosaic marker chromosome 16 resulting in 16q11.2-q12.1 gain in a child with intellectual disability, microcephaly, and cerebellar cortical dysplasia. American journal of medical genetics. Part A. vol 155A. issue 12. 2012-04-30. PMID:22052843. |
mosaic marker chromosome 16 resulting in 16q11.2-q12.1 gain in a child with intellectual disability, microcephaly, and cerebellar cortical dysplasia. |
2012-04-30 |
2023-08-12 |
Not clear |
| Fabien Touzot, Laetitia Gaillard, Nadia Vasquez, Tangui Le Guen, Yves Bertrand, Jean Bourhis, Thierry Leblanc, Alain Fischer, Jean Soulier, Jean-Pierre de Villartay, Patrick Rev. Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita. The Journal of allergy and clinical immunology. vol 129. issue 2. 2012-04-12. PMID:22078571. |
hoyeraal-hreidarsson syndrome (hh) is a severe variant of dc in which an early onset of bone marrow failure leading to combined immunodeficiency is associated with microcephaly, cerebellar hypoplasia, and growth retardation. |
2012-04-12 |
2023-08-12 |
human |
| Shin Hayashi, Nobuhiko Okamoto, Yasutsugu Chinen, Jun-ichi Takanashi, Yoshio Makita, Akira Hata, Issei Imoto, Johji Inazaw. Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH). Human genetics. vol 131. issue 1. 2012-02-16. PMID:21735175. |
novel intragenic duplications and mutations of cask in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (micpch). |
2012-02-16 |
2023-08-12 |
Not clear |
| Shin Hayashi, Nobuhiko Okamoto, Yasutsugu Chinen, Jun-ichi Takanashi, Yoshio Makita, Akira Hata, Issei Imoto, Johji Inazaw. Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH). Human genetics. vol 131. issue 1. 2012-02-16. PMID:21735175. |
recently, cask aberrations caused by both mutations and deletions have been reported to cause severe mental retardation (mr), microcephaly and disproportionate pontine and cerebellar hypoplasia (micpch) in females. |
2012-02-16 |
2023-08-12 |
Not clear |
| Yasmin Namavar, Peter G Barth, Bwee Tien Poll-The, Frank Baa. Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia. Orphanet journal of rare diseases. vol 6. 2011-11-21. PMID:21749694. |
all subtypes share common characteristics, including hypoplasia/atrophy of cerebellum and pons, progressive microcephaly, and variable cerebral involvement. |
2011-11-21 |
2023-08-12 |
Not clear |
| Paul R Kasher, Yasmin Namavar, Paula van Tijn, Kees Fluiter, Aleksander Sizarov, Maarten Kamermans, Andrew J Grierson, Danica Zivkovic, Frank Baa. Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia. Human molecular genetics. vol 20. issue 8. 2011-07-21. PMID:21273289. |
pontocerebellar hypoplasia (pch) represents a group (pch1-6) of neurodegenerative autosomal recessive disorders characterized by hypoplasia and/or atrophy of the cerebellum, hypoplasia of the ventral pons, progressive microcephaly and variable neocortical atrophy. |
2011-07-21 |
2023-08-12 |
human |
| Gustavo Malinger, Dorit Lev, Tally Lerman-Sagi. Imaging of fetal cytomegalovirus infection. Fetal diagnosis and therapy. vol 29. issue 2. 2011-06-28. PMID:21088375. |
these findings are not always obvious but may on some occasions be demonstrated by ultrasound and mri, they include ventriculomegaly, microcephaly, increased periventricular echogenicity, calcifications, periventricular pseudocysts, intraventricular synechia, malformations of cortical development, cerebellar lesions and t2 abnormal temporal signals. |
2011-06-28 |
2023-08-12 |
Not clear |
| J Takanashi, H Arai, S Nabatame, S Hirai, S Hayashi, J Inazawa, N Okamoto, A J Barkovic. Neuroradiologic features of CASK mutations. AJNR. American journal of neuroradiology. vol 31. issue 9. 2011-02-22. PMID:20595373. |
mutations of the cask gene are associated with x-linked mental retardation with microcephaly and disproportionate brain stem and cerebellar hypoplasia in females. |
2011-02-22 |
2023-08-12 |
Not clear |
| Mary C O'Driscoll, Graeme C M Black, Jill Clayton-Smith, Elliott H Sherr, William B Dobyn. Identification of genomic loci contributing to agenesis of the corpus callosum. American journal of medical genetics. Part A. vol 152A. issue 9. 2010-12-15. PMID:20683985. |
our data also support the hypothesis that many acc loci confer susceptibility to other brain malformations as well as acc, such as cerebellar hypoplasia, microcephaly, and polymicrogyria. |
2010-12-15 |
2023-08-12 |
human |
| Anna Hackett, Patrick S Tarpey, Andrea Licata, James Cox, Annabel Whibley, Jackie Boyle, Carolyn Rogers, John Grigg, Michael Partington, Roger E Stevenson, John Tolmie, John Rw Yates, Gillian Turner, Meredith Wilson, Andrew P Futreal, Mark Corbett, Marie Shaw, Jozef Gecz, F Lucy Raymond, Michael R Stratton, Charles E Schwartz, Fatima E Abid. CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. European journal of human genetics : EJHG. vol 18. issue 5. 2010-07-15. PMID:20029458. |
mutations of the calcium/calmodulin-dependent serine protein kinase (cask) gene have recently been associated with x-linked mental retardation (xlmr) with microcephaly, optic atrophy and brainstem and cerebellar hypoplasia, as well as with an x-linked syndrome having some fg-like features. |
2010-07-15 |
2023-08-12 |
Not clear |
| Byung Joo Lee, Jeong Hun Kim, Young Suk Y. Lissencephaly and mild cerebellar vermis hypoplasia in a case of microcephaly and chorioretinal dysplasia. Ophthalmic genetics. vol 31. issue 2. 2010-06-10. PMID:20450312. |
lissencephaly and mild cerebellar vermis hypoplasia in a case of microcephaly and chorioretinal dysplasia. |
2010-06-10 |
2023-08-12 |
Not clear |
| Burak Durmaz, Bernd Wollnik, Ozgur Cogulu, Yun Li, Hasan Tekgul, Filiz Hazan, Ferda Ozkina. Pontocerebellar hypoplasia type III (CLAM): extended phenotype and novel molecular findings. Journal of neurology. vol 256. issue 3. 2009-08-10. PMID:19277761. |
recently a rare, novel form of pch has been reported called cerebellar atrophy with progressive microcephaly (clam). |
2009-08-10 |
2023-08-12 |
Not clear |