Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. - Wikidata - awgldk - TriplyDB

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

http://www.wikidata.org/entity/Q34752030

about

Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment.Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys.Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era.Versatile Roles of the Chromatin Remodeler CHD7 during Brain Development and Disease.The terminal nerve plays a prominent role in GnRH-1 neuronal migration independent from proper olfactory and vomeronasal connections to the olfactory bulbs.Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome.DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development.Reproductive endocrine phenotypes relating to CHD7 mutations in humans.New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries.Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants.Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.

P2860

Q34486033-1B7FEFD4-03C7-4F05-9E15-F7BA281D61C4 Q36283451-B39671F4-CC8D-4EED-B4BC-40B3FF515BBC Q36433718-155A8999-69F5-45B9-96EF-50BE4B967FE4 Q42369167-A67D2CD0-4B39-4ACA-9C5C-8CED1EFDD26F Q42694560-D2C6E566-F2BC-4631-BEE1-C78382588C41 Q47222829-A633138B-5C2F-4F7C-9870-80BB570FCAA3 Q47334271-A6D5F78F-D600-4B76-830A-20525FE37EAE Q47387884-C53F499A-D29F-44DF-A983-6D7FA1815CA4 Q47564393-FD5DAC96-C873-4C13-86B5-52D86ECE9B4E Q49965607-0513F7D5-5D45-40BA-BEAE-82C45DBDECD6 Q50133432-2A9F956A-AD3A-47F5-BA0B-AEE42121E881 Q55076940-D0A09C1F-7962-4B4B-886E-B587055831A2

P2860

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

http://www.wikidata.org/entity/Q34752030

description

2014 nî lūn-bûn

@nan

2014 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի դեկտեմբերին հրատարակված գիտական հոդված

@hy

2014年の論文

@ja

2014年論文

@yue

2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

@zh-mo

2014年論文

@zh-tw

2014年论文

@wuu

name

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

@ast

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

@en

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

@nl

type

label

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

@ast

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

@en

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

@nl

prefLabel

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

@ast

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

@en

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

@nl

P1433

Q34752030-5BE049CF-052A-4BB1-9F32-10021E08B124

P1476

Q34752030-101E6A55-AF02-466D-9761-EDB6C570721F

P2093

Q34752030-0BA0F846-8C6B-43E7-A8F7-4F4E8B257ABE

Q34752030-3150929C-8623-42FB-AEF6-5998833C874E

Q34752030-5CC1C39A-6F52-4E6F-B4F7-C733B619A21B

Q34752030-6CAB87BD-04D0-4DC6-8769-25EE6BC830CF

Q34752030-91FE2CC1-52DD-4B86-B132-B3C8CAFA8711

Q34752030-9ACCC54A-2AE0-4D08-B343-599FF06A8A26

Q34752030-9E4EB0D9-2C91-419F-899B-8161BAFD39CE

Q34752030-A8EFDA9F-F7CA-4218-92A5-FDBD7D6D248C

Q34752030-B62D0A6B-EA05-41F8-9143-F9F164E843BF

Q34752030-BF0ECFDA-4FD4-4C0F-B02C-932BDA45FAE3

P2860

Q34752030-11101D1F-BC49-4BF6-B1E3-C668F585A40D

Q34752030-1E6E4FD1-C616-4C06-BF80-0459FDB1B573

Q34752030-28909CF9-DFA7-43F1-9004-41754331CEFD

Q34752030-300D7BEC-07F9-4FEC-855B-EBAFF98410DD

Q34752030-31AE4596-9910-44D3-84D6-9EF3C421F0E3

Q34752030-39D14C94-A68F-470D-BC80-42D86FF9BCC9

Q34752030-3AFC4D67-C2FD-47F6-BE49-0FE60C8EB0FD

Q34752030-4271EC01-EF34-4749-8086-86DF928F7BDF

Q34752030-64577150-EE1B-4239-ADAE-B7A01B4F3F13

Q34752030-65411803-6DDD-4355-B30B-DE3A7AEFC30D

P304

Q34752030-B206A8DA-8100-414A-843E-6F6708CF7A5E

P31

Q34752030-E21F509D-2BBC-4CBD-AC16-CE1A9C114F21

P356

Q34752030-1AC12EE5-3FA6-4580-8E6C-C4BE8B72122F

P407

Q34752030-D740F7FC-8350-46F4-9B18-8BD0A984A8E6

P433

Q34752030-744F5308-1198-4DCC-9449-30AC4F099435

P478

Q34752030-7AEBAEF9-9855-4CF1-9A14-6F74D81F34D5

P50

Q34752030-1E990FC0-F3C4-4DF9-B0C7-489594DAE2D1

Q34752030-68936C10-A5D4-41BD-83F4-72C36C8A4A50

Q34752030-ACDB554A-3762-4435-A73A-55AE79233351

Q34752030-DFC5905F-159A-4B52-893C-0C710ECE5CA7

P577

Q34752030-562122D7-31E6-440E-BF4D-CD4EA3DD07F4

P5875

Q34752030-EF7B5C4C-9EB8-4B2F-B08A-8FA5EB907495

P698

Q34752030-AA7D942A-4574-402D-BE76-CF17BBA96DEA

P921

Q34752030-2033F7E9-D3A5-4769-BD7C-D08E36BA9477

P932

Q34752030-B005A5B5-2724-450B-8532-8B3A4A021526

P356

PNAS.1417438111

P1433

Proceedings of the National Academy of Sciences of the United States of America

P1476

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency

@en

P2093

Brian F Meyer

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

Cassandra L Buck

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

Dorota Monies

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

Edward R Horton

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

Eleni P Asimacopoulos

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

James F Gusella

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

Jason Willer

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

Jin-Ho Choi

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

Konstantina M Stankovic

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

Lacey Plummer

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

P2860

CHARGE syndrome

CHARGE syndrome: an update

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome

Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability

Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions

Mutation update on the CHD7 gene involved in CHARGE syndrome

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

Protein structure homology modeling using SWISS-MODEL workspace.

P304

17953-17958

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

P31

scholarly article

P356

10.1073/PNAS.1417438111

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

P407

P433

50

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

P478

111

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

P50

Nicholas Katsanis

Verónica Mericq

Paulina M Merino

P577

2014-12-03T00:00:00Z

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

P5875

269170605

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

P698

25472840

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

P921

Kallmann syndrome

P932

4273325

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