about
A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher diseaseClinical impacts of genomic copy number gains at Xq28Challenges in detecting genomic copy number aberrations using next-generation sequencing data and the eXome Hidden Markov Model: a clinical exome-first diagnostic approach.A de novo microdeletion involving PAFAH1B (LIS1) related to lissencephaly phenotypeMLC1 mutations in Japanese patients with megalencephalic leukoencephalopathy with subcortical cysts.Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathyNovel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy.SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome.A novel MED12 mutation associated with non-specific X-linked intellectual disability.A de novo microdeletion in a patient with inner ear abnormalities suggests that the 10q26.13 region contains the responsible geneA 12p13 GRIN2B deletion is associated with developmental delay and macrocephalyLoss-of-function mutations and global rearrangements in GPC3 in patients with Simpson-Golabi-Behmel syndrome.A 7q31.33q32.1 microdeletion including LRRC4 and GRM8 is associated with severe intellectual disability and characteristics of autismA novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizures.A novel PLP1 mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher disease.A 15q14 microdeletion involving MEIS2 identified in a patient with autism spectrum disorder.Characteristics of rare and private deletions identified in phenotypically normal individuals.A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence.The smallest de novo 20q11.2 microdeletion causing intellectual disability and dysmorphic features.A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation.Concurrent occurrence of an inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving MAP2K2 in a patient with developmental delay, distinctive facial features, and lambdoid synostosis.Novel A178P mutation in SLC16A2 in a patient with Allan-Herndon-Dudley syndrome.White matter abnormalities in an adult patient with l-2-hydroxyglutaric aciduria.Comment on "delayed myelination is not a constant feature of Allan-Herndon-Dudley syndrome: report of a new case and review of the literature" by Azzolini S et al. Brain & Development 2014;36:716-720.A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects.Familial 9q33q34 microduplication in siblings with developmental disorders and macrocephaly.CHCHD2 is down-regulated in neuronal cells differentiated from iPS cells derived from patients with lissencephaly.Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA.MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.Leukoencephalopathy associated with 11q24 deletion involving the gene encoding hepatic and glial cell adhesion molecule in two patients.Characteristics of patients with benign partial epilepsy in infancy without PRRT2 mutations.Interstitial deletion within 7q31.1q31.3 in a woman with mild intellectual disability and schizophrenia.Natural histories of patients with Wolf-Hirschhorn syndrome derived from variable chromosomal abnormalitiesOverlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORALong-term natural history of an adult patient with distal 22q11.2 deletion from low copy repeat-D to EElucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1De novo 1p35.2 microdeletion including PUM1 identified in a patient with sporadic West syndromeA novel MLH1 mutation in a Japanese family with Lynch syndrome associated with small bowel cancerIndependent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders - leukodystrophy and autismNarrowing down the region responsible for 1q23.3q24.1 microdeletion by identifying the smallest deletion
P50
Q28242947-FF673C6A-5079-4407-8372-2A180190FB7DQ31077840-16AC3174-D6D4-42E5-AB62-AAC300B072B4Q31125778-A5A45502-6D70-43EF-B5EA-1E20CFE36BE4Q36636722-4EF81709-3F89-4B8F-8D71-E04C4F250219Q36671110-2D37B3EE-6BCA-4598-9AD8-6682B0385D1FQ36671161-8CB2091C-73B6-408F-8457-AC4CE1ACAD01Q36671171-7394529E-FD2C-433C-83C1-C98D316B8AF2Q36671191-C41A0215-DF3F-47C0-8061-CE1C9105416AQ36671196-3F33E1CE-F6D6-4E09-B092-6B9B2322683DQ36914130-358861E8-0B4B-4E69-8597-FB68DA685925Q37256694-08262C14-DD6C-497C-BF0A-AD5226843594Q37335132-88EEDF24-5689-4C87-BA45-9C7B1BBB051CQ37632862-6484B529-5F13-443D-83E8-BE09763D69C2Q38758192-5014F057-6A18-4F70-B1E2-39754C1F4185Q40785975-74634999-44DE-4B11-A81D-CE773C689EC8Q41063140-4EEB353B-9A6B-4907-8D72-79C7F7712C96Q41127751-9BC6B568-79B5-4E1D-95ED-F04515022534Q41218842-5319A164-2FDC-4B9B-B58C-A95D1ADBE170Q47117053-EAF49E42-B0BA-4084-8670-97188FDE21CDQ47118644-E4259F74-6D82-47A7-B609-F4EAAA6C02E9Q47971287-A390A2BD-5A40-4BD6-A712-F1AD2A2AD0CAQ48141125-40DA91DE-4DE4-410A-AB22-1B7475914775Q48172410-A57074BE-29B0-4CEF-B9C4-72B7A45CC360Q48234955-1792FBB4-BE86-4E69-9E31-CF4CEB0A3E5DQ48319168-35DEFFCC-E330-46C0-A673-C475D22DFF2BQ50128237-5DF9CA86-05FF-46EA-B895-60DAC9499EE0Q52151878-4B49DF9D-E848-4944-9342-FE612A9C72D6Q52605985-ED9E025F-C2AC-46C1-A1F6-CB924A5EC1D8Q52692296-984DE748-19C7-43F5-B683-640445908439Q52929597-BDCED573-89B6-4419-B3F0-10D0DB3B7D5DQ52988740-08F172B5-91A2-4C6E-A6CC-DDA008485E38Q55712334-3A2920FA-A2A5-4DB9-A25D-8A0A5A7166EDQ58087389-AF75AB23-8FA3-4113-A7F3-4C73CE4C3FE5Q59659985-5B0FF25C-1CC4-4C5E-8E78-63E3529EE8C3Q89172821-7CBD3D57-4E7C-4E0D-AB9C-C021CE6DEB0EQ90025269-B47953B5-CD42-4D9F-9829-8C37C8BC3571Q90399278-3729B0B5-AB59-47C9-A859-057C96D22D85Q90791614-AEF10F28-5862-401C-B676-0145AE6BC22AQ90791646-8B83F6EC-3B33-420B-ACD9-41B300974ECFQ90912888-EC0039A0-51F4-43B5-99F4-8EA0887DB7A6
P50
description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Toshiyuki Yamamoto
@ast
Toshiyuki Yamamoto
@en
Toshiyuki Yamamoto
@es
Toshiyuki Yamamoto
@nl
Toshiyuki Yamamoto
@sl
type
label
Toshiyuki Yamamoto
@ast
Toshiyuki Yamamoto
@en
Toshiyuki Yamamoto
@es
Toshiyuki Yamamoto
@nl
Toshiyuki Yamamoto
@sl
prefLabel
Toshiyuki Yamamoto
@ast
Toshiyuki Yamamoto
@en
Toshiyuki Yamamoto
@es
Toshiyuki Yamamoto
@nl
Toshiyuki Yamamoto
@sl
P106
P21
P31
P496
0000-0002-9484-3505
P569
2000-01-01T00:00:00Z