Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3 - Wikidata - awgldk - TriplyDB

Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3

Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3

http://www.wikidata.org/entity/Q24655864

about

Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients Allelic diversity in human developmental neurogenetics: insights into biology and disease The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease Characterization of ocular motor deficits in congenital facial weakness: Moebius and related syndromes.Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus.Human genetic disorders of axon guidance.Midline axon guidance and human genetic disorders.Ipsilateral hemiparesis caused by putaminal hemorrhage in a patient with horizontal gaze palsy with progressive scoliosis: a case report.Congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorders (CCDDs)Human disorders of axon guidance.A developmental and genetic classification for midbrain-hindbrain malformations.Genetic regulation of human brain development: lessons from Mendelian diseases.Horizontal gaze palsy and scoliosis: a case report and review of the literature.Congenital cranial dysinnervation disorders.The Robo3 receptor, a key player in the development, evolution, and function of commissural systems.Searching for Potocki-Lupski syndrome phenotype: a patient with language impairment and no autism.DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.A novel mutation of ROBO3 in horizontal gaze palsy with progressive scoliosis.Robo3.1A suppresses slit-mediated repulsion by triggering degradation of Robo2.Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations.Horizontal gaze palsy and progressive scoliosis: magnetic resonance imaging features and surgical treatment.

P2860

Q24619637-5F2A2706-06F2-4A72-BA95-09F784DF2A5F Q24620889-06968880-7D5D-4861-A12C-4E52A9AA99D2 Q30434866-EC45734F-A3C9-4D7D-B0B9-2981427D61A7 Q30574379-F5F95BDF-9747-47B9-9B97-EE9DB62EA148 Q33691037-9135E25E-6626-471A-BB95-8D0A3879F5ED Q33693788-AB9B60F4-764C-4D4B-A9D0-494981330135 Q34194348-493A162B-19E2-45FE-8AB1-069D3D539973 Q35166982-40E5EEF4-8DC0-4FD3-82C7-BA92C41CF58E Q35359083-ABFD74E9-B961-4704-9F8F-624D9BBC1550 Q36071781-F4C24DF1-3CA2-40CE-BD78-4F3995094299 Q37472322-630F5749-FB34-4E37-838C-3689A9735017 Q37808270-E0F27D50-F39D-469A-B35E-AC6DAE5B1FA2 Q38230372-07506443-022A-4F7A-9E9B-FA9ECD73670E Q39006051-CB2BCCC7-572A-4D82-8844-B60389B19075 Q39062294-03BBF183-93DA-43D1-9E4C-F8640091961C Q42145920-EC9507FB-5749-4C44-B26B-7816FBD8C852 Q47606475-9BB21830-46E1-41A3-BAF4-E37AE0BE8D5D Q48692486-F2779E11-52F8-44EF-B9C3-E98A9D4AD1C7 Q48711907-902055A0-D741-4386-A900-7907D11A499B Q51802560-726E9AE6-2EB6-426F-B41E-F9D95EF654B9 Q55134182-26BC19EC-4D36-4EB3-ACC5-091C2B1AEA77

P2860

Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3

http://www.wikidata.org/entity/Q24655864

description

2006 nî lūn-bûn

@nan

2006 թուականի Մարտին հրատարակուած գիտական յօդուած

@hyw

2006 թվականի մարտին հրատարակված գիտական հոդված

@hy

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

name

Horizontal gaze palsy with pro ...... eterozygous mutations in ROBO3

@ast

Horizontal gaze palsy with pro ...... eterozygous mutations in ROBO3

@en

Horizontal gaze palsy with pro ...... eterozygous mutations in ROBO3

@nl

type

label

Horizontal gaze palsy with pro ...... eterozygous mutations in ROBO3

@ast

Horizontal gaze palsy with pro ...... eterozygous mutations in ROBO3

@en

Horizontal gaze palsy with pro ...... eterozygous mutations in ROBO3

@nl

prefLabel

Horizontal gaze palsy with pro ...... eterozygous mutations in ROBO3

@ast

Horizontal gaze palsy with pro ...... eterozygous mutations in ROBO3

@en

Horizontal gaze palsy with pro ...... eterozygous mutations in ROBO3

@nl

P1433

Q24655864-7BB57FD3-3BDA-4578-BCBF-4C82EF802053

P1476

Q24655864-CB0F407D-D965-4B65-A641-6C6C24E4FD3C

P2093

Q24655864-2D9CFD74-3D52-43AC-8DFF-A023A2696825

Q24655864-7A32CC0C-F49D-47A3-9575-CA3904E5FFFE

Q24655864-A2684A1A-35D3-4DEE-BA09-03DE5EEC6456

Q24655864-D96E085C-341F-40D4-AFC3-E603B991CDFC

Q24655864-F4B28A7B-DB69-4523-9A12-43400DE7D90E

P2860

Q24655864-17843454-64A8-4DD7-8DBD-480640FB6B30

Q24655864-265C139F-5631-4159-9CBE-DF90EB6A5466

Q24655864-3BCD2AB1-5299-4979-9496-DBF257E7110F

Q24655864-4D4E59BC-5BC1-45D5-97E2-06315A3BA7E5

Q24655864-56A32B63-935E-4EB7-9D23-CF54A671816F

Q24655864-8DDA4592-E8E3-479F-B775-051739F45F87

Q24655864-B00C0D8A-AD0B-4F81-9B95-6C321E82F973

Q24655864-B247C73B-1F9B-42B0-8CC8-55CBD779F5AA

Q24655864-C0AD0DE2-C79A-4D9F-A9D9-13C43DB4F662

Q24655864-D2B95E0B-D868-4CDE-A04C-2055350949A6

P304

Q24655864-020EF82A-BFAD-4981-B3B1-BA3C598DA164

P31

Q24655864-EFB6FFAD-2439-4FD8-B71A-A7635AB54F9E

Q24655864-a727bd48-ac9c-4287-923c-8927693c0d7d

P356

Q24655864-A3F10079-3048-46E2-A39A-0CCC0E094664

P407

Q24655864-F12504AE-6369-4A52-87BB-01151FC47391

P433

Q24655864-DB14F7A0-9DDB-4650-B0C1-7D98232FB59D

P478

Q24655864-D7F05D32-8A2F-4AFE-9E1C-933F8D8B0C77

P50

Q24655864-223689C6-172F-4B2B-8948-BE35FC13751D

P577

Q24655864-2EFF3916-8A5A-4BDC-8CD4-8A6A2B84BED1

P5875

Q24655864-622D79F8-92F7-48B5-AE04-B668AD59D71E

P698

Q24655864-34ECF9EF-9A82-431D-95F3-705A91709262

P921

Q24655864-BDEF03EC-A8BB-4F63-9C73-AD5F6362AF66

P932

Q24655864-7446D49A-A0C2-49BF-BBD5-42EB28A7E871

P356

JMG.2005.035436

P1433

Journal of Medical Genetics

P1476

Horizontal gaze palsy with pro ...... eterozygous mutations in ROBO3

@en

P2093

B Arthur

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

C Andrews

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

E C Engle

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

E I Traboulsi

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

W-M Chan

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

P2860

Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis

Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3

The divergent Robo family protein rig-1/Robo3 is a negative regulator of slit responsiveness required for midline crossing by commissural axons

The slit receptor Rig-1/Robo3 controls midline crossing by hindbrain precerebellar neurons and axons

Familial infantile scoliosis associated with bilateral paralysis of conjugate gaze

Scoliosis associated with congenital brain-stem abnormalities. A report of eight cases.

Progressive scoliosis associated with lateral gaze palsy.

Congenital horizontal gaze palsy and kyphoscoliosis.

Congenital scoliosis associated with encephalopathy in five children of two families.

Brainstem hypoplasia in familial horizontal gaze palsy and scoliosis.

P304

e11

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

P31

scholarly article

P356

10.1136/JMG.2005.035436

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

P407

P433

3

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

P478

43

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

P50

Neil R Friedman

P577

2006-03-01T00:00:00Z

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

P5875

7253380

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

P698

16525029

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

P921

horizontal gaze palsy with progressive scoliosis

P932

2563249

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