NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. - Test2 - elhamkhani - TriplyDB

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.

http://www.wikidata.org/entity/Q34118172

about

Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions Engineered Swine Models of Cancer Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome Molecular mechanisms promoting the pathogenesis of Schwann cell neoplasms Monozygotic twins with Neurofibromatosis type 1, concordant phenotype and synchronous development of MPNST and metastasis.Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing The NF1 somatic mutational landscape in sporadic human cancers.Neurofibromatoses: part 1 - diagnosis and differential diagnosis.SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints.Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population.Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports.BRAF duplications and MAPK pathway activation are frequent in gliomas of the optic nerve proper.126 novel mutations in Italian patients with neurofibromatosis type 1.Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay.Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.Clinical and Molecular Characterization of NF1 Patients: Single-Center Experience of 32 Patients From China High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation Emerging genotype-phenotype relationships in patients with large NF1 deletions.Cognitive and behavioral problems in children with neurofibromatosis type 1: challenges and future directions.Approach to the Diagnosis of Overgrowth Syndromes.Cancer of the Peripheral Nerve in Neurofibromatosis Type 1.Confirmation of mutation landscape of NF1-associated malignant peripheral nerve sheath tumors.Clinical presentations of 23 half-siblings from a mosaic neurofibromatosis type 1 sperm donor.Identification of genes potentially involved in the increased risk of malignancy in NF1-microdeleted patients.No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients.Apaf1-deficient cortical neurons exhibit defects in axonal outgrowth.Genetic Analyses of the NF1 Gene in Turkish Neurofibromatosis Type I Patients and Definition of three Novel Variants.NF1 single and multi-exons copy number variations in neurofibromatosis type 1.Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities.Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder.Neurofibromatosis Type 1 Molecular Diagnosis: The RNA Point of View.Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I.Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1.Somatic mutations of SUZ12 in malignant peripheral nerve sheath tumors.Analysis of crossover breakpoints yields new insights into the nature of the gene conversion events associated with large NF1 deletions mediated by nonallelic homologous recombination.Two pathogenic NF1 gene mutations identified in DNA from a child with mild phenotype.NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.ADAP2 in heart development: a candidate gene for the occurrence of cardiovascular malformations in NF1 microdeletion syndrome.Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth.

P2860

Q21261481-C8CF22A7-F85A-4E3D-8836-33FA11E4142F Q26744575-E98646D3-A3C1-44B7-99C2-5B576E68021A Q29147388-36AEEF54-3671-45EC-97DC-722131B7F25C Q30457681-D114E5B5-C82E-4097-8A5D-D9BB0C9FA73A Q33650336-A35BF448-EB89-40B6-9EF4-AB2C53E99EC7 Q33811241-0602F867-DE33-468F-83E1-A397CA142747 Q33823452-748EA9D6-95F9-4246-AD95-3AC32ED806AD Q34412515-7CBD5537-D180-4F74-9C38-8BAFDD1E2D14 Q34501235-98F8062A-C5B8-4117-81D4-83544201A02F Q35477813-5DC430B6-0AB1-4910-9E36-01A6F993206B Q35701848-1B76AF42-E7B2-4167-B726-76E41533ADA0 Q35717449-8A6D4711-1E15-4A7A-808A-0411926A60A2 Q36195173-18BF7B25-14F2-4713-A143-58C7552DC733 Q36411302-55CABBD3-5F9E-4339-BAB1-8A82070D7039 Q36686702-5F248571-9198-4A9E-B55F-5DD45E2B7257 Q37008500-8EBEE874-96BE-4E7B-9F22-C8CC7796E3A9 Q37207138-1F4F96D6-8B1E-4F40-B7E3-62AC871A0A51 Q37308862-7C897612-769A-4D73-906D-82C6529ECE91 Q37725901-AF9DCC37-605C-40D4-8AC2-1019A8ED0A5F Q38243763-FAAA834E-3EEA-496D-BF61-BEF2BEA02B8E Q38672998-1438A00B-3EEE-4C66-B180-F86391C7BE7D Q38738733-06DECC21-9ABF-4363-B93F-21E1FD5B0163 Q38998127-2F1DBCB3-FF4B-4F5F-8AFB-E9AC32372D78 Q39018198-07942053-1DD1-4294-826E-0E78EA82FDBC Q39655398-EDC07885-AC58-46F7-B2FD-10750B464889 Q39927141-B3630DB0-2980-44B5-BE41-1D2515F81ACB Q40939218-8C4D9CE8-0E0F-4567-A172-4D87F8872169 Q41156085-DD2B0352-2450-448F-87A7-F54D4E8880D4 Q41516419-C8226ABF-C657-4AE4-8E58-A79A5A7A2F2B Q42407826-F8E6417B-AF13-4D2D-9AD5-0F80FC3C9105 Q42660797-080D784E-BDC5-4804-BD02-28FB9C224AD6 Q42704488-5179D0C8-1A14-4757-887E-4C6ADA51CB6E Q43171487-180DEADD-19D3-4BF7-BDF9-373428A6F333 Q43209143-BEBC4833-D291-4391-86B4-B97742640E3D Q43213926-506D7024-DD92-4246-89A9-90F4971A273F Q44780934-7F5BB13E-91E4-4AF8-96E1-A39D2057F24D Q46321584-7A42ECCC-ADE7-4416-8BB2-65BB3339863D Q46339754-FE85154A-EF32-4824-91F2-6279595A1C69 Q47073549-F3613831-DE05-4AF7-95E7-10B5C643CB3D Q47992212-3102E954-6375-428E-952B-76E71B143CA1

P2860

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.

http://www.wikidata.org/entity/Q34118172

description

2010 nî lūn-bûn

@nan

2010 թուականի Յունիսին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի հունիսին հրատարակված գիտական հոդված

@hy

2010年の論文

@ja

2010年論文

@yue

2010年論文

@zh-hant

2010年論文

@zh-hk

2010年論文

@zh-mo

2010年論文

@zh-tw

2010年论文

@wuu

name

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.

@ast

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.

@en

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.

@nl

type

label

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.

@ast

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.

@en

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.

@nl

prefLabel

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.

@ast

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.

@en

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.

@nl

P1433

Q34118172-425C5CE4-9A88-44F6-B564-4A91A13D3632

P1476

Q34118172-FFE232EB-6414-4A9E-B7A0-3449706EFA09

P2093

Q34118172-05B949D9-7D27-47DD-B34B-E39F91C5F8BE

Q34118172-170BC934-D3F6-4C90-AF0E-CE9E11F169B1

Q34118172-1E7E5DED-8E04-4667-BAF5-9236B0C8417C

Q34118172-247E4943-01DA-447F-BC59-835781ED28D1

Q34118172-39A90558-1BC6-4B75-A546-0D95707B0742

Q34118172-3BE6D4E5-7C5D-414D-9B2D-FB079930D155

Q34118172-5129C8EF-507B-4736-BE43-95468FA834FE

Q34118172-5E272ECA-7FC0-4E79-9B3C-286AD7C2453E

Q34118172-6E42DECA-66EB-4B91-B1BB-96D63DE741C4

Q34118172-87686621-2FFB-403E-BE14-1A5587A547C2

P304

Q34118172-F07A5B7D-628E-4FDD-8C9B-35520E5FE19D

P31

Q34118172-653A3F07-BB37-4A20-BE5A-E3008B05FC50

P356

Q34118172-8928BA90-370F-4603-913C-2E1038C5325D

P433

Q34118172-5F847675-7B27-431A-B8AE-AB7729A2F024

P478

Q34118172-2BEA60E7-566C-4D54-8680-0C0B0D6DBA39

P50

Q34118172-25FAACA1-16CB-4D6D-81C2-CBD95385902E

Q34118172-86BD8FE2-AFD2-4E35-B79C-3E4DFCFF6F3E

Q34118172-C6E8EF6B-AA1B-453D-BDCF-79DB4F43E5EF

Q34118172-CA359AE3-C340-42A2-B360-83487149445A

Q34118172-FF20805C-E1C9-44C0-A8CB-9E06C176E6BF

P577

Q34118172-E4F2F4DC-F0F6-469C-90D9-4D9916CE7EC7

P5875

Q34118172-0822FAEC-D461-4D01-A2B7-BDBF7AE28D91

P698

Q34118172-F4D40964-BAFB-4A59-9DC8-E54ECC0900A6

P356

P1433

P1476

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.

@en

P2093

Anne Dieux-Coeslier

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

Bertrand Isidor

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

Bruno Leheup

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

Béatrice Parfait

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

Diana Rodriguez

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

Dominique Vidaud

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

Elisa Grillo

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

Gill Spurlock

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

Hélène Dollfus

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

Ingrid Laurendeau

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

P304

E1506-18

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

P31

scholarly article

P356

10.1002/HUMU.21271

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

P433

6

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

P478

31

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

P50

Sébastien Barbarot

P577

2010-06-01T00:00:00Z

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

P5875

44640294

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

P698

20513137

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