Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia - Test2 - elhamkhani - TriplyDB

Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia

Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia

http://www.wikidata.org/entity/Q35945599

about

Hypergonadotropic hypogonadism, progressive early-onset spinocerebellar ataxia, and late-onset sensorineural hearing loss: case report and literature review.Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts.Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31.Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.Free sialic acid storage disease without sialuria Magnetic resonance imaging pattern recognition in hypomyelinating disorders More than hypomyelination in Pol-III disorder.Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA)Perspectives in Pediatric Pathology, Chapter 18. Hypogonadotropic Hypogonadisms. Pediatric and Pubertal Presentations.Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism (4H) Syndrome With Vertebral Anomalies: A Novel Association.Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy.Invited article: an MRI-based approach to the diagnosis of white matter disorders.An Indian boy with a novel leukodystrophy: 4H syndrome.POLR3A variants in hereditary spastic paraplegia and ataxia.Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies.Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies.A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report.Update on leukodystrophies

P2860

Q30449162-B9794102-7781-476F-A095-C7989F24CB53 Q30976896-A6F102FF-3450-4B35-A87B-1E90CFDE31B4 Q33844489-22B9232D-D9AE-4EB8-BB3D-F05A637CF36B Q34102599-2B74F29E-475A-4EA9-A5AF-53F318F334E9 Q34228464-235E8322-BF65-46DF-AFD0-8978645FEC67 Q34591305-924384AC-1920-4E0B-BF06-EAEB5F8B6C2C Q35204958-B4608BCA-DB02-493C-8AD6-27846650AF2F Q35542161-8AE3C988-D7CE-4470-9640-1D15931890D3 Q35708770-1608D089-DB1A-421B-9D02-B74D8B467D0E Q36430059-6BDBADD5-0443-452B-BD3A-AFF99E89CE6D Q36661277-45DC84C7-9B98-4C5D-A46A-AE28CE0FA9B0 Q37231887-2B29AB72-8122-437B-AB85-DAF5123E6609 Q37300290-FCED1BD4-DB5D-4DDA-8A3C-93C089548973 Q38822960-EA9AE207-936D-4517-8CE9-DDE86C702352 Q41742183-1A2891C3-6A0B-4C41-868C-5BB6D3E006FB Q41921317-1ECD70D1-6DE7-47B2-B394-58C0A41E9116 Q41964061-FEF70C3F-4EA5-4FB3-8A96-18047EBC5512 Q43977690-15C69F85-DBD4-4606-BEA6-7B9B4383BDC5 Q47922257-F804B334-505C-4CE0-863D-3349F7D80773 Q48950175-21812543-33D1-40F1-B7F8-F29118868DF9 Q51578650-02E18F26-1758-409E-A02B-174A5F5ADEBF Q52606766-15B520F8-F2E8-4B2E-A528-AC1E5B022304 Q57814471-7775B67F-AFB3-426B-914B-A0E361E6EAF9

P2860

Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia

http://www.wikidata.org/entity/Q35945599

description

2006 nî lūn-bûn

@nan

2006年の論文

@ja

2006年論文

@yue

2006年論文

@zh-hant

2006年論文

@zh-hk

2006年論文

@zh-mo

2006年論文

@zh-tw

2006年论文

@wuu

2006年论文

@zh

2006年论文

@zh-cn

name

Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia

@ast

Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia

@en

type

label

Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia

@ast

Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia

@en

prefLabel

Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia

@ast

Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia

@en

P1433

Q35945599-41B08DA7-E227-4403-A5C0-3E7A488037E8

P1476

Q35945599-C9E88655-EF9E-41E8-AEF4-090F35FC3F2B

P2093

Q35945599-0C051FEB-7916-4C6D-9BB6-CFBB1B89CD40

Q35945599-158B5E3E-28F6-4C7E-897D-06F3C9D6B8D2

Q35945599-3C5AF6C0-39E1-4AB7-99E0-360BB3A729F3

Q35945599-62186EF9-F4D5-417D-BFF1-83B017449C19

Q35945599-81962FA9-6F56-492E-840D-9A084B976591

Q35945599-9FA07B95-37DB-43AC-9909-9471D60F8540

Q35945599-B146A8B3-4961-44E5-BD90-EA46E4F1FE61

Q35945599-B2A9CDFF-3C5C-4B79-9EA2-F1D160904288

Q35945599-BFA0E900-75CB-4072-ADDE-D0DE0DCB7491

Q35945599-DE1E51E4-9019-4BF4-95D4-3A626146A2D0

P2860

Q35945599-15EDE6FD-DD7F-4A9D-BC3B-523C3436B62C

Q35945599-2044B50A-C77B-4545-BF26-59CDD214A3B5

Q35945599-249994B8-B357-40B8-8C04-BF78091A8E20

Q35945599-31348BBE-61DB-430F-B7DC-62024B7F7DE4

Q35945599-3B562125-371A-4A02-9851-08771B22B65E

Q35945599-592BC7EF-4DFF-4994-B02A-55D05375D105

Q35945599-7F6BAFAE-829A-445D-9132-C38B1DDB3B14

Q35945599-92451051-ED89-45ED-9D6A-051FEC0A0ABA

Q35945599-BBB4CA46-EAB1-4050-B6B0-67E476A7B437

P304

Q35945599-098AF78F-07B5-48E2-A79D-F730F7040F22

P31

Q35945599-15D7E302-B8ED-48E8-B497-ED705C850D52

P356

Q35945599-EBD86D2D-086C-403F-9752-AFEDA24B6DB3

P407

Q35945599-69CAF759-DD27-4B77-B289-643D3FA54FBD

P433

Q35945599-213465BA-DCB3-49EF-B850-09F13E449FEC

P478

Q35945599-FA0A0A91-78BD-415A-9C5E-B25636565126

P577

Q35945599-F9EBCDF7-94D3-402C-888B-34F4E00A2DA7

P5875

Q35945599-454B71B4-4C87-4C19-9FB6-42BA822688F0

P698

Q35945599-505E3307-95DC-4835-9F6F-0CD917878C6B

P921

Q35945599-E3F72589-A7B9-4246-B0B9-767EE785E6D2

P932

Q35945599-ED506E9A-5328-48F5-A319-A0CB338D9BD1

P356

01.WNL.0000247666.28904.35

P1433

P1476

Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia

@en

P2093

C R Kaneski

http://www.w3.org/2001/XMLSchema#string

G C Zirzow

http://www.w3.org/2001/XMLSchema#string

J D Heiss

http://www.w3.org/2001/XMLSchema#string

K Wong

http://www.w3.org/2001/XMLSchema#string

M Abu Asab

http://www.w3.org/2001/XMLSchema#string

M S van der Knaap

http://www.w3.org/2001/XMLSchema#string

M T Vanier

http://www.w3.org/2001/XMLSchema#string

M Timmons

http://www.w3.org/2001/XMLSchema#string

M Tsokos

http://www.w3.org/2001/XMLSchema#string

R Schiffmann

http://www.w3.org/2001/XMLSchema#string

P2860

Formation of intranuclear crystalloids and proliferation of the smooth endoplasmic reticulum in schwann cells induced by tellurium treatment: association with overexpression of HMG CoA reductase and HMG CoA synthase mRNA

Genetic control of pituitary development and hypopituitarism.

Hypogonadotropic hypogonadism.

Glycoproteins of myelin sheaths.

Leukoencephalopathy with ataxia, hypodontia, and hypomyelination.

Expression of steroidogenic acute regulatory protein in cultured Schwann cells and its regulation by cAMP.

Endocrine defects in mice carrying a null mutation for the progesterone receptor gene.

Hypogonadotropic hypogonadism and cerebellar ataxia: detailed phenotypic characterization of a large, extended kindred.

Structure of the major glucosamine-containing ganglioside of human tissues.

P304

2066-2069

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1212/01.WNL.0000247666.28904.35

http://www.w3.org/2001/XMLSchema#string

P407

P433

11

http://www.w3.org/2001/XMLSchema#string

P478

67

http://www.w3.org/2001/XMLSchema#string

P577

2006-12-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

6640817

http://www.w3.org/2001/XMLSchema#string

P698

17159124

http://www.w3.org/2001/XMLSchema#string

P921

P932

1950601

http://www.w3.org/2001/XMLSchema#string