| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Aram Yang, Sung Yoon Cho, Ja-Hyun Jang, Jinsup Kim, Sook Za Kim, Beom Hee Lee, Han-Wook Yoo, Dong-Kyu Ji. Further delineation of COG8-CDG: A case with novel compound heterozygous mutations diagnosed by targeted exome sequencing. Clinica chimica acta; international journal of clinical chemistry. vol 471. 2018-02-12. PMID:28619360. |
cdg should be included in the initial differential diagnosis for children with a suspected unknown syndrome or unclassified inherited metabolic disorder or children with diverse clinical presentations, such as psychomotor retardation, hypotonia, skeletal deformity, microcephaly, cerebellar atrophy, and unexplained transient elevated liver enzyme. |
2018-02-12 |
2023-08-13 |
Not clear |
| Malavika Hebbar, Katta M Girisha, Anshika Srivastava, Stephanie Bielas, Anju Shukl. Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia. European journal of medical genetics. vol 60. issue 10. 2017-12-07. PMID:28711739. |
however, the child presented here has early onset progressive ataxia, speech delay, microcephaly, cerebellar atrophy and fundus albipunctatus. |
2017-12-07 |
2023-08-13 |
Not clear |
| Sylvie Picker-Minh, Cyril Mignot, Diane Doummar, Mais Hashem, Eissa Faqeih, Patrice Josset, Béatrice Dubern, Fowzan S Alkuraya, Nadine Kraemer, Angela M Kaind. Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD. Orphanet journal of rare diseases. vol 11. issue 1. 2017-12-04. PMID:27129381. |
two index patients with imnepd in the original report had multiple neurological symptoms such as postnatal microcephaly, intellectual disability, developmental delay, sensorineural deafness, cerebellar atrophy, ataxia, and peripheral neuropathy. |
2017-12-04 |
2023-08-13 |
Not clear |
| Anna-Kaisa Anttonen, Anni Laari, Maria Kousi, Yawei J Yang, Tiina Jääskeläinen, Mirja Somer, Eija Siintola, Eveliina Jakkula, Mikko Muona, Saara Tegelberg, Tuula Lönnqvist, Helena Pihko, Leena Valanne, Anders Paetau, Melody P Lun, Johanna Hästbacka, Outi Kopra, Tarja Joensuu, Nicholas Katsanis, Maria K Lehtinen, Jorma J Palvimo, Anna-Elina Lehesjok. ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss. Brain : a journal of neurology. vol 140. issue 5. 2017-10-30. PMID:28335020. |
both knockdown and genome editing of znhit3 in zebrafish embryos recapitulate the patients' cerebellar defects, microcephaly and oedema. |
2017-10-30 |
2023-08-13 |
mouse |
| Isaac Marin-Valencia, Andreas Gerondopoulos, Maha S Zaki, Tawfeg Ben-Omran, Mariam Almureikhi, Ercan Demir, Alicia Guemez-Gamboa, Anne Gregor, Mahmoud Y Issa, Bart Appelhof, Susanne Roosing, Damir Musaev, Basak Rosti, Sara Wirth, Valentina Stanley, Frank Baas, Francis A Barr, Joseph G Gleeso. Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia. American journal of human genetics. vol 101. issue 3. 2017-10-27. PMID:28823706. |
in addition to reduced volume of pons and cerebellum, affected individuals had microcephaly, psychomotor delay, and ataxia. |
2017-10-27 |
2023-08-13 |
human |
| Margot R F Reijnders, Nurhuda M Ansor, Maria Kousi, Wyatt W Yue, Perciliz L Tan, Katie Clarkson, Jill Clayton-Smith, Ken Corning, Julie R Jones, Wayne W K Lam, Grazia M S Mancini, Carlo Marcelis, Shehla Mohammed, Rolph Pfundt, Maian Roifman, Ronald Cohn, David Chitayat, Tom H Millard, Nicholas Katsanis, Han G Brunner, Siddharth Bank. RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes. American journal of human genetics. vol 101. issue 3. 2017-10-27. PMID:28886345. |
in silico modeling, mouse fibroblasts spreading assays, and in vivo overexpression assays using zebrafish as a surrogate model demonstrated that the p.cys18tyr and p.asn39ser rac1 variants function as dominant-negative alleles and result in microcephaly, reduced neuronal proliferation, and cerebellar abnormalities in vivo. |
2017-10-27 |
2023-08-13 |
mouse |
| Hülya Kayserili, Umut Altunoglu, Gozde Yesil, Rasim Özgür Rost. Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients. American journal of medical genetics. Part A. vol 170. issue 6. 2017-10-24. PMID:27075597. |
microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients. |
2017-10-24 |
2023-08-13 |
Not clear |
| Alice Masurel-Paulet, Amélie Piton, Sophie Chancenotte, Claire Redin, Christel Thauvin-Robinet, Yvan Henrenger, Delphine Minot, Audrey Creppy, Marie Ruffier-Bourdet, Julien Thevenon, Paul Kuentz, Daphné Lehalle, Aurore Curie, Gaelle Blanchard, Ezzat Ghosn, Marlene Bonnet, Mélanie Archimbaud-Devilliers, Frédéric Huet, Odile Perret, Nicole Philip, Jean-Louis Mandel, Laurence Faivr. A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome. American journal of medical genetics. Part A. vol 170. issue 8. 2017-10-24. PMID:27256868. |
mutations in slc9a6 have been reported in x-linked christianson syndrome associating severe to profound intellectual deficiency and an angelman-like phenotype with microcephaly, absent speech, ataxia with progressive cerebellar atrophy, ophthalmoplegia, epilepsy, and neurological regression. |
2017-10-24 |
2023-08-13 |
Not clear |
| Siddharth Srivastava, Heather E Olson, Julie S Cohen, Cynthia S Gubbels, Sharyn Lincoln, Brigette Tippin Davis, Layla Shahmirzadi, Siddharth Gupta, Jonathan Picker, Timothy W Yu, David T Miller, Janet S Soul, Andrea Poretti, SakkuBai Naid. BRAT1 mutations present with a spectrum of clinical severity. American journal of medical genetics. Part A. vol 170. issue 9. 2017-10-19. PMID:27282546. |
representing mild severity are three individuals (patients 1-3), who are girls (including two sisters, patients 1-2) between 4 and 10 years old, with subtle dysmorphisms, intellectual disability, ataxia or dyspraxia, and cerebellar atrophy on brain mri; additionally, patient 3 has well-controlled epilepsy and microcephaly. |
2017-10-19 |
2023-08-13 |
Not clear |
| P Dunn, G P Prigatano, S Szelinger, J Roth, A L Siniard, A M Claasen, R F Richholt, M De Both, J J Corneveaux, A M Moskowitz, C Balak, I S Piras, M Russell, A L Courtright, N Belnap, S Rangasamy, K Ramsey, J M Opitz, D W Craig, V Narayanan, M J Huentelman, I Schrauwe. A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus. American journal of medical genetics. Part A. vol 173. issue 3. 2017-10-19. PMID:28139025. |
mutations in cask cause x-linked intellectual disability, microcephaly with pontine and cerebellar hypoplasia, optic atrophy, nystagmus, feeding difficulties, gi hypomotility, and seizures. |
2017-10-19 |
2023-08-13 |
Not clear |
| Mara Cavallin, Maria A Rujano, Nathalie Bednarek, Daniel Medina-Cano, Antoinette Bernabe Gelot, Severine Drunat, Camille Maillard, Meriem Garfa-Traore, Christine Bole, Patrick Nitschké, Claire Beneteau, Thomas Besnard, Benjamin Cogné, Marion Eveillard, Alice Kuster, Karine Poirier, Alain Verloes, Jelena Martinovic, Laurent Bidat, Marlene Rio, Stanislas Lyonnet, M Louise Reilly, Nathalie Boddaert, Melanie Jenneson-Liver, Jacques Motte, Martine Doco-Fenzy, Jamel Chelly, Tania Attie-Bitach, Matias Simons, Vincent Cantagrel, Sandrine Passemard, Alexandre Baffet, Sophie Thomas, Nadia Bahi-Buisso. WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells. Brain : a journal of neurology. vol 140. issue 10. 2017-10-06. PMID:28969387. |
patient phenotypes ranged from severe microcephaly with extremely reduced gyration with pontocerebellar hypoplasia to moderate microcephaly with cerebellar atrophy. |
2017-10-06 |
2023-08-13 |
human |
| Mara Cavallin, Maria A Rujano, Nathalie Bednarek, Daniel Medina-Cano, Antoinette Bernabe Gelot, Severine Drunat, Camille Maillard, Meriem Garfa-Traore, Christine Bole, Patrick Nitschké, Claire Beneteau, Thomas Besnard, Benjamin Cogné, Marion Eveillard, Alice Kuster, Karine Poirier, Alain Verloes, Jelena Martinovic, Laurent Bidat, Marlene Rio, Stanislas Lyonnet, M Louise Reilly, Nathalie Boddaert, Melanie Jenneson-Liver, Jacques Motte, Martine Doco-Fenzy, Jamel Chelly, Tania Attie-Bitach, Matias Simons, Vincent Cantagrel, Sandrine Passemard, Alexandre Baffet, Sophie Thomas, Nadia Bahi-Buisso. WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells. Brain : a journal of neurology. vol 140. issue 10. 2017-10-06. PMID:28969387. |
in summary, we highlight the broad phenotypic spectrum of wdr81-related brain malformations, which include microcephaly with moderate to extremely reduced gyration and cerebellar anomalies. |
2017-10-06 |
2023-08-13 |
human |
| Shin Hayashi, Daniela Tiaki Uehara, Kousuke Tanimoto, Seiji Mizuno, Yasutsugu Chinen, Shinobu Fukumura, Jun-Ichi Takanashi, Hitoshi Osaka, Nobuhiko Okamoto, Johji Inazaw. 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. vol 12. issue 8. 2017-09-07. PMID:28783747. |
comprehensive investigation of cask mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (micpch). |
2017-09-07 |
2023-08-13 |
Not clear |
| Shin Hayashi, Daniela Tiaki Uehara, Kousuke Tanimoto, Seiji Mizuno, Yasutsugu Chinen, Shinobu Fukumura, Jun-Ichi Takanashi, Hitoshi Osaka, Nobuhiko Okamoto, Johji Inazaw. 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. vol 12. issue 8. 2017-09-07. PMID:28783747. |
loss-of-function mutations of cask are associated with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (micpch), especially in females. |
2017-09-07 |
2023-08-13 |
Not clear |
| Frederic Tort, Olatz Ugarteburu, Maria Angeles Torres, Judit García-Villoria, Marisa Girós, Angeles Ruiz, Antonia Ribe. Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient. Pediatrics. vol 138. issue 5. 2017-06-22. PMID:27940755. |
at birth, axial hypotonia, uncoordinated movements, microcephaly, and generalized cerebellar atrophy were detected. |
2017-06-22 |
2023-08-13 |
Not clear |
| J S Cohen, S Srivastava, K D Farwell Hagman, D N Shinde, R Huether, D Darcy, R Wallerstein, G Houge, S Berland, K G Monaghan, A Poretti, A L Wilson, W K Chung, A Fatem. Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features. Clinical genetics. vol 91. issue 5. 2017-06-02. PMID:27598823. |
a similar phenotype of microcephaly, cc agenesis, and cerebellar vermis hypoplasia has been reported in mice with central nervous system-specific knockout of zbtb18. |
2017-06-02 |
2023-08-13 |
mouse |
| Brian N Harding, Amanda Moccia, Séverine Drunat, Omar Soukarieh, Hélène Tubeuf, Lyn S Chitty, Alain Verloes, Pierre Gressens, Vincent El Ghouzzi, Sylvie Joriot, Ferdinando Di Cunto, Alexandra Martins, Sandrine Passemard, Stephanie L Biela. Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons. American journal of human genetics. vol 99. issue 2. 2017-05-09. PMID:27453579. |
consistent with cytokinesis defects attributed to cit, multinucleated neurons were observed throughout the cerebral cortex and cerebellum of an affected proband, expanding our understanding of mechanisms attributed to primary microcephaly. |
2017-05-09 |
2023-08-13 |
human |
| Anna Podolska, Albrecht Kobelt, Sigrid Fuchs, Karl Hackmann, Andreas Rump, Evelin Schröck, Kerstin Kutsche, Nataliya Di Donat. Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern. American journal of medical genetics. Part A. vol 173. issue 5. 2017-05-08. PMID:28371302. |
a de novo balanced x;6 translocation [46,x,t(x;6)(p22.1;q27)] and a completely skewed xci pattern (100:0) were detected in a female patient with microcephaly, cerebellar vermis hypoplasia, heart defect, and severe developmental delay. |
2017-05-08 |
2023-08-13 |
Not clear |
| 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. |
galloway-mowat syndrome (gms) is a very rare autosomal-recessive disorder characterized by nephrotic syndrome associated with microcephaly, and various central nervous system abnormalities, mostly cerebral hypoplasia or cerebellar atrophy, intellectual disability and neural-migration defects. |
2017-02-08 |
2023-08-13 |
Not clear |
| 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. |
here we present a chinese consanguineous family with infantile onset intellectual disability and cerebellar hypoplasia but no microcephaly. |
2017-02-08 |
2023-08-13 |
Not clear |