Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. - Wikidata - wikimedia - TriplyDB

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.

http://www.wikidata.org/entity/Q30490992

about

CHARGE syndrome CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome Genetics of congenital heart disease: the glass half empty Tibial hemimelia: new classification and reconstructive options 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 The C20orf133 gene is disrupted in a patient with Kabuki syndrome Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice Multiple mutations in mouse Chd7 provide models for CHARGE syndrome Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome.Mature middle and inner ears express Chd7 and exhibit distinctive pathologies in a mouse model of CHARGE syndrome.Role of Chd7 in zebrafish: a model for CHARGE syndrome.CHD7 targets active gene enhancer elements to modulate ES cell-specific gene expression Cleft lip and palate genetics and application in early embryological development.CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features.Effect of long-term GH treatment in a patient with CHARGE association.Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions.CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia.Inappropriate p53 activation during development induces features of CHARGE syndrome.Study of smell and reproductive organs in a mouse model for CHARGE syndrome.Mutations in the CHD7 gene: the experience of a commercial laboratory Epigenetic Developmental Disorders: CHARGE syndrome, a case study CHARGE syndrome: a review of the immunological aspects.The C20orf133 gene is disrupted in a patient with Kabuki syndrome.Identification and characterization of FAM124B as a novel component of a CHD7 and CHD8 containing complex.Chromodomain proteins in development: lessons from CHARGE syndrome.Mice carrying a hypomorphic Evi1 allele are embryonic viable but exhibit severe congenital heart defects Unique phenotype in a patient with CHARGE syndrome.CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis.CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon.My approach to performing a perinatal or neonatal autopsy Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study.Responsiveness to a physiological regimen of GnRH therapy and relation to genotype in women with isolated hypogonadotropic hypogonadism.How many remodelers does it take to make a brain? Diverse and cooperative roles of ATP-dependent chromatin-remodeling complexes in development.CHD proteins: a diverse family with strong ties.

P2860

Q21203036-78381250-8E47-468A-959B-18C3698941EA Q24311335-E70170C3-8281-4FF4-8884-47498A0248DE Q24634411-25C9D7D8-9097-470F-BBD3-A5211E84D325 Q24648502-587DCB51-E1CC-4C86-902D-159D755D197A Q24652747-97D6B456-5558-422C-9C28-CF7435F87C6D Q24657612-38E0F499-8CF2-4B97-AE9C-E20415D9381C Q26827974-142AD9CC-4A42-46D0-8862-488F1241D6C2 Q26862793-0BF3F575-D603-4B48-B7E0-0DC12B1DC70D Q28071839-244DA74C-78B9-486B-9C3E-07B7212523B1 Q28260716-7659E4DA-F206-4BBC-9309-BD0F57DC9904 Q28263190-86E003CA-1F04-4132-8589-83F297536C73 Q28512053-9B791A42-EA36-4FEA-86E4-7FD72E83EE91 Q28586874-DB9A199D-DC7F-42D6-A255-D6171BA98AD8 Q28587098-A29777F5-23F5-472A-8DD2-7A9B4227C323 Q30425553-17CEE6E2-BF69-44EC-9248-80F899C48C36 Q30460276-E4BBEB3C-0D8A-4EF8-80AD-F83AD9678CEA Q30470290-66002CF7-F1ED-437A-A831-8BF770A17FF6 Q33640298-70BEAA5B-9BD2-418A-AB66-0B7F66157C0A Q33671456-A48CA808-1142-4C24-A3C9-4EC6607ACEFE Q33903396-98C3E5A9-AAB8-4498-A99C-1E2936E5DA0A Q33929589-070BD35A-1C1B-43BF-941E-1E4DEB24C3BA Q34162228-247E8620-67A6-4005-9E2E-E45DF86845B6 Q34200505-30C51237-E27B-4315-8225-305E49F6D1C4 Q34315506-8FE26B01-2D13-4DB6-AB31-089385554D40 Q34328503-ECA34F9F-40EF-41E7-9959-C09AEF85D577 Q34405763-694280A8-7873-4EAB-B38B-70D4F3040218 Q34463003-667C6A62-FCA2-4DA0-825E-D0345CF98937 Q34463345-FC1962DD-7298-4115-971B-BB020B2CC877 Q34531748-E21EBF64-4DCC-46B2-9BA0-B8E3CD127ABA Q34534287-E2C81224-BE63-4E21-A8CE-746AB5D94015 Q34990736-2EBCDC88-D1DA-4D9F-8CB1-6D7130ADBCAF Q35107227-E165C7FA-9866-4E59-BFED-491B69133C97 Q35550537-95EAF0EF-F14A-40C5-BB60-A5C87B4881C5 Q35752651-10117546-2006-4A51-929A-79D45D023AF7 Q35762931-3993591F-BD97-467D-926B-B5981B571E07 Q35770185-46C143DF-D9F4-4F1A-B592-97A7C496E8B2 Q36257777-60587E2A-10D7-40A0-8357-1248DB2929A8 Q36589407-E1271662-D8CB-4467-ACFA-6E66B0479A72 Q36916651-55465189-F175-4530-96DB-C5579EA4F1EF Q36916655-CBD7E4C2-E5AD-4C25-A11D-474CE51DE3BB

P2860

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.

http://www.wikidata.org/entity/Q30490992

description

2005 nî lūn-bûn

@nan

2005 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2005 թվականի սեպտեմբերին հրատարակված գիտական հոդված

@hy

2005年の論文

@ja

2005年学术文章

@wuu

2005年学术文章

@zh-cn

2005年学术文章

@zh-hans

2005年学术文章

@zh-my

2005年学术文章

@zh-sg

2005年學術文章

@yue

name

Phenotypic spectrum of CHARGE ...... sion during human development.

@ast

Phenotypic spectrum of CHARGE ...... sion during human development.

@en

type

label

Phenotypic spectrum of CHARGE ...... sion during human development.

@ast

Phenotypic spectrum of CHARGE ...... sion during human development.

@en

prefLabel

Phenotypic spectrum of CHARGE ...... sion during human development.

@ast

Phenotypic spectrum of CHARGE ...... sion during human development.

@en

P1433

Q30490992-18B526A9-B43E-4821-9C66-74D5086A9B8A

P1476

Q30490992-DE959073-E584-47A7-9C5D-730DE5388814

P2093

Q30490992-0841518D-D166-475C-AAF6-5A8710E17EB3

Q30490992-09A7F32B-1C50-43A7-9720-71724DD51AAB

Q30490992-0C13F6EF-6D4B-467B-B55B-AA03B180E958

Q30490992-5BF52F23-DC5E-4006-B869-524792410985

Q30490992-5C03E030-1CBC-4A81-9256-507AFCF24A35

Q30490992-5DAA4E58-2E75-4AF3-A8C1-4E6D3B5A08A7

Q30490992-625700BF-9F92-414C-84F3-34AED2BD4D07

Q30490992-643B9471-BB41-48BF-B746-87E80D22C6CE

Q30490992-6ED7D7A7-680F-4E96-9D63-237E92D84C27

Q30490992-70E25725-FA50-484D-9AC9-1521FAEEE195

P2860

Q30490992-0596B9B5-3999-4D98-A692-39499239E755

Q30490992-1420F211-84E4-4719-BB9C-6541669BAE8C

Q30490992-1B944B62-6EB5-43B4-942A-E05F070E5B53

Q30490992-27255CFB-BD83-4CE8-873B-BE5D3846D12C

Q30490992-2764F1C5-F697-4F94-A886-0D33FDAB8985

Q30490992-35812F4C-34E0-4E93-B6E2-CD29338DBE81

Q30490992-4AD2340C-D4AA-4A1D-9384-B788FE20C18F

Q30490992-4DB2C6D5-0951-4E1F-BB39-551B8C81B1F3

Q30490992-5537D432-1DCE-4131-B27C-3FEAA712F143

Q30490992-6E9AD170-0913-4727-B0AF-85F8A1152495

P304

Q30490992-F180E5E4-49E4-4889-9DC0-0EAD45F81E03

P31

Q30490992-516674F0-7ED5-4672-B0F5-93354E8E541F

P356

Q30490992-B2C8A24A-7F62-4CCE-961F-A0B28ED0C444

P407

Q30490992-87F84B7A-444A-4E04-9E35-8B444B662B88

P433

Q30490992-354F4919-E146-4237-8FF7-1EA9D6E48DBF

P478

Q30490992-F6704CF9-A546-410F-BC80-0174082CEA26

P50

Q30490992-12B5AE04-8167-4DCE-8A24-A62A7D8AD7A5

Q30490992-47558F4A-B0F0-45CE-880E-87ABF3D36D33

Q30490992-5A4C77E8-5C5B-47C4-9805-A95346F43CB9

Q30490992-87BE0F74-DEEF-4838-B373-524369EAAEF1

Q30490992-8B6741D8-6CB7-40AC-ADF1-B3D072AEA504

Q30490992-B27D5AC0-522A-4210-AD5B-8D45AD78356E

Q30490992-EEE07520-4258-49D1-8840-9F035F2911B9

P577

Q30490992-2769859A-E10B-405F-8FCA-70640ED56D4A

P5875

Q30490992-760FA560-7F6C-4455-BFAC-76A785E29CD3

P698

Q30490992-A41790AD-0DF6-4F01-BE62-72A1DDC396A2

P932

Q30490992-B1EB555B-FE8B-406E-9B10-3EA2B3503E2C

P356

JMG.2005.036160

P1433

Journal of Medical Genetics

P1476

Phenotypic spectrum of CHARGE ...... ssion during human development

@en

P2093

Aubry MC

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

Audollent S

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

Chemouny S

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

Cruaud C

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

Delezoide AL

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

Dumez Y

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

Encha-Razavi F

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

Esculpavit C

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

Fredouille C

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

Gonzales M

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

P2860

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

PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations

CHARGE syndrome: report of 47 cases and review

Characterization of the CHD family of proteins

Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation--a syndrome

Choanal atresia and associated multiple anomalies

Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study

NURD, a novel complex with both ATP-dependent chromatin-remodeling and histone deacetylase activities

A reappraisal of the CHARGE association.

P304

211-217

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

P31

scholarly article

P356

10.1136/JMG.2005.036160

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

Tania Attié-Bitach

Heather Etchevers

Damien Sanlaville

Mathieu Clément-Ziza

Stanislas Lyonnet

P577

2005-09-16T00:00:00Z

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

P5875

7593690

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

P698

16169932

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

P932

2563257

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