Works matching DE "GENETICS of neurofibromatosis"

Results: 46

Case Report: A Disease Phenotype of Rett Syndrome and Neurofibromatosis Resulting from A Bilocus Variant Combination.

Published in:

2023

By:

Narasimhan, Udayakumar;
Janakiraman, Abhinayaa;
Puskur, Dedeepya;
Anitha, Fatima Shirly;
Paul, Solomon Franklin Durairaj;
Koshy, Teena

Publication type:

Letter to the Editor

Prenatal Rapamycin Results in Early and Late Behavioral Abnormalities in Wildtype C57Bl/6 Mice.

Published in:

Behavior Genetics, 2013, v. 43, n. 1, p. 51, doi. 10.1007/s10519-012-9571-9

By:

Tsai, Peter;
Greene-Colozzi, Emily;
Goto, June;
Anderl, Stefanie;
Kwiatkowski, David;
Sahin, Mustafa

Publication type:

Article

Intraoral plexiform neurofibroma involving the maxilla - pathognomonic of neurofibromatosis type I.

Published in:

Journal of Pediatric Neurosciences, 2011, v. 6, n. 1, p. 65, doi. 10.4103/1817-1745.84413

By:

Thammaiah, Smitha;
Manjunath, M.;
Rao, Kavita;
Devi, H. S. Uma

Publication type:

Article

Inherited disorders.

Published in:

Practitioner, 2016, v. 260, n. 1790, p. 28

By:

Nigel Stollery

Publication type:

Article

Epidemiology and etiology of meningioma.

Published in:

Journal of Neuro-Oncology, 2010, v. 99, n. 3, p. 307, doi. 10.1007/s11060-010-0386-3

By:

Wiemels, Joseph;
Wrensch, Margaret;
Claus, Elizabeth B.

Publication type:

Article

Identification of the cis-acting region in the NF2 gene promoter as a potential target for mutation and methylation-dependent silencing in schwannoma.

Published in:

Genes to Cells, 2001, v. 6, n. 5, p. 441, doi. 10.1046/j.1365-2443.2001.00432.x

By:

Kino, Takeshi;
Takeshima, Hideo;
Nakao, Mitsuyoshi;
Nishi, Toru;
Yamamoto, Keizo;
Kimura, Takahiro;
Saito, Yoshiki;
Kochi, Masato;
Kuratsu, Jun-ichi;
Saya, Hideyuki;
Ushio, Yukitaka

Publication type:

Article

DNA diagnosis of neurofibromatosis 2.

Published in:

JAMA: Journal of the American Medical Association, 1993, v. 270, n. 19, p. 2316, doi. 10.1001/jama.1993.03510190072029

By:

MacCollin, Mia;
Mohney, Trina

Publication type:

Article

NF1 exon 7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis 1 patient.

Published in:

Human Genetics, 2003, v. 113, n. 6, p. 551, doi. 10.1007/s00439-003-1009-2

By:

Colapietro, Patrizia;
Gervasini, Cristina;
Natacci, Federica;
Rossi, Livia;
Riva, Paola;
Larizza, Lidia

Publication type:

Article

Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1.

Published in:

Human Genetics, 2003, v. 112, n. 1, p. 12, doi. 10.1007/s00439-002-0840-1

By:

Upadhyaya, Meena;
Majounie, Elisa;
Thompson, Peter;
Han, Song;
Consoli, Claudia;
Krawczak, Michael;
Cordeiro, Isobel;
Cooper, David N.

Publication type:

Article

Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 (NF1) gene.

Published in:

Human Genetics, 2001, v. 109, n. 5, p. 487, doi. 10.1007/s004390100594

By:

Song Han;
Cooper, David N.;
Upadhyaya, Meena

Publication type:

Article

Uncertainty Management and Communication Preferences Related to Genetic Relativism Among Families Affected by Down Syndrome, Marfan Syndrome, and Neurofibromatosis.

Published in:

Health Communication, 2012, v. 27, n. 7, p. 663, doi. 10.1080/10410236.2011.629408

By:

Parrott, Roxanne;
Peters, KathrynF.;
Traeder, Tara

Publication type:

Article

The Rare Presence of Two Genetic Disorders (Neurofibromatosis 1 and X-Linked Recessive Ichthyosis) in a Single Patient.

Published in:

2023

By:

Bansal, Shivani;
Singh, Sushama

Publication type:

Case Study

Intriguing bumps over palms and soles.

Published in:

Indian Journal of Dermatology, 2019, v. 64, n. 3, p. 245, doi. 10.4103/ijd.IJD_605_17

By:

Doshi, Bhavana;
Belgaumkar, Vasudha;
Chougule, Nagbhushan

Publication type:

Article

A particular GAP in mind.

Published in:

Nature Genetics, 2001, v. 27, n. 4, p. 354, doi. 10.1038/86835

By:

Zhu, Yuan;
Parada, Luis F

Publication type:

Article

Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1.

Published in:

Nature Genetics, 2001, v. 27, n. 4, p. 399, doi. 10.1038/86898

By:

Costa, Rui M.;
Yang, Tao;
Huynh, Duong P.;
Pulst, Stefan M.;
Viskochil, David H.;
Silva, Alcino J.;
Brannan, Camilynn I.

Publication type:

Article

Neurofibromatosis Type I as a Model of Autosomal Dominant Inheritance.

Published in:

Pediatric Dermatology, 2001, v. 18, n. 5, p. 445, doi. 10.1046/j.1525-1470.2001.01976.x

By:

Dupuis, Lucie;
Nezarati, Marjan M.

Publication type:

Article

Neurofibroma of the Recurrent Laryngeal Nerve in a Patient with Known Neurofibromatosis Type 1.

Published in:

2009

By:

Dalgorf, Dustin;
Solomon, Philip

Publication type:

Case Study

Nörofibromatozis: 11 Olgunun Klinik Özelliklerinin İncelenmesi.

Published in:

Turkish Journal of Dermatology / Turk Dermatoloji Dergisis, 2013, v. 7, n. 4, p. 196, doi. 10.4274/tdd.1653

By:

Akoğlu, Gülşen;
Gazyağci, Ali Serhan;
Kutluer, İbrahim

Publication type:

Article

Neurofibromatosis eurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #637 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/637.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 179, doi. 10.1002/humu.9166

By:

Paola Origone;
Carlo Bellini;
Debora Sambarino;
Barbara Banelli;
Guido Morcaldi;
Carmen La Rosa;
Franco Stanzial;
Claudio Castellan;
Domenico A. Coviello;
Cecilia Garrè;
Eugenio Bonioli

Publication type:

Article

Neurofibromatosis eurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patientsCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #637 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/637.pdf

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 179, doi. 10.1002/humu.9166

By:

Paola Origone;
Carlo Bellini;
Debora Sambarino;
Barbara Banelli;
Guido Morcaldi;
Carmen La Rosa;
Franco Stanzial;
Claudio Castellan;
Domenico A. Coviello;
Cecilia Garrè;
Eugenio Bonioli

Publication type:

Article

Pheochromocytoma cell lines from heterozygous neurofibromatosis knockout mice.

Published in:

Cell & Tissue Research, 2000, v. 302, n. 3, p. 309, doi. 10.1007/s004410000290

By:

Powers, J. F.;
Evinger, M. J.;
Tsokas, P.;
Bedri, S.;
Alroy, J.;
Shahsavari, M.;
Tischler, A. S.

Publication type:

Article

Induction of Melanogenic Abnormalities in NF1 + /– Mutant Mice by DMBA.

Published in:

Journal of Investigative Dermatology, 1999, v. 113, n. 6, p. 1133, doi. 10.1046/j.1523-1747.1999.00813.x

By:

Mashour, George A.;
Martuza, Robert L.;
Kurtz, Andreas

Publication type:

Article

SETBP1 mutations in juvenile myelomonocytic leukaemia and myelodysplastic syndrome but not in paediatric acute myeloid leukaemia.

Published in:

British Journal of Haematology, 2014, v. 164, n. 1, p. 156, doi. 10.1111/bjh.12595

By:

Shiba, Norio;
Ohki, Kentaro;
Park, Myoung‐ja;
Sotomatsu, Manabu;
Kudo, Kazuko;
Ito, Etsuro;
Sako, Masahiro;
Arakawa, Hirokazu;
Hayashi, Yasuhide

Publication type:

Article

Case of the Month.

Published in:: JAAPA: Journal of the American Academy of Physician Assistants (Haymarket Media, Inc.), 2010, v. 23, n. 3, p. 76, doi. 10.1097/01720610-201003000-00016
Publication type:: Article

A neurofibromatosis-1-regulated pathway is required for learning in Drosophila.

Published in:

Nature, 2000, v. 403, n. 6772, p. 895, doi. 10.1038/35002593

By:

Hui-Fu Guo;
Jiayuan Tong

Publication type:

Article

NEUROFIBROMATOSIS TYPE I - CLINICAL EVOLUTION AND PSYCHOSOCIAL IMPLICATIONS.

Published in:

Analele Universitatii din Oradea, Fascicula Ecotoxicologie, Zootehnie si Tehnologii în Industria Alimentara, 2018, v. 17, n. Part B, p. 347

By:

Diana, Petchesi Codruça;
Kinga, Kozma;
Alexandra, Iuhas Oana;
Alexandru, Jurca;
Cosmin, Vesa;
Marius, Bembea

Publication type:

Article

Imprints of "Scanxiety".

Published in:

AMA Journal of Ethics, 2022, v. 24, n. 7, p. 685, doi. 10.1001/amajethics.2022.685

By:

Mindrup, Rachel

Publication type:

Article

Calpain-dependent proteolysis of NF2 protein: Involvement in schwannomas and meningiomas.

Published in:

Neuropathology, 2000, v. 20, n. 3, p. 153, doi. 10.1046/j.1440-1789.2000.00326.x

By:

Kimura, Y.;
Saya, H.;
Nakao, M.

Publication type:

Article

Hyperactive interneurons impair learning in a neurofibromatosis model.

Published in:

Nature Neuroscience, 2009, v. 12, n. 1, p. 8, doi. 10.1038/nn0109-8

By:

Staley, Kevin J.;
Anderson, Anne E.

Publication type:

Article

Effective neurofibromatosis therapeutics blocking the oncogenic kinase PAK1.

Published in:

Drug Discoveries & Therapeutics, 2011, v. 5, n. 6, p. 266, doi. 10.5582/ddt.2011.v5.6.266

By:

Maruta, Hiroshi

Publication type:

Article

The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features.

Published in:

Clinical Genetics, 2015, v. 87, n. 5, p. 401, doi. 10.1111/cge.12498

By:

Ruggieri, M.;
Polizzi, A.;
Spalice, A.;
Salpietro, V.;
Caltabiano, R.;
D'Orazi, V.;
Pavone, P.;
Pirrone, C.;
Magro, G.;
Platania, N.;
Cavallaro, S.;
Muglia, M.;
Nicita, F.

Publication type:

Article

HRAS and the Costello syndrome.

Published in:

Clinical Genetics, 2007, v. 71, n. 2, p. 101, doi. 10.1111/j.1399-0004.2007.00743.x

By:

Rauen, K. A.

Publication type:

Article

Distinct Functional Domains of Neurofibromatosis Type 1 Regulate Immediate versus Long-Term Memory Formation.

Published in:

Journal of Neuroscience, 2007, v. 27, n. 25, p. 6852, doi. 10.1523/JNEUROSCI.0933-07.2007

By:

Shun Ho, Ivan;
Hannan, Frances;
Hui-Fu Guo;
Hakker, Inessa;
Yi Zhong

Publication type:

Article

Steatocystoma multiplex — an uncommon lesion with special emphasis on cytological features and cyto-histological correlation.

Published in:

2012

By:

Elhence, P.;
Bansal, R.;
Sharma, S.;
Jain, V.

Publication type:

Case Study

Functional analysis of neurofibromatosis 2 (NF2) missense mutations.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 14, doi. 10.1093/hmg/10.14.1519

By:

Gutmann, David H.

Publication type:

Article

High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 3, p. 271, doi. 10.1093/hmg/10.3.271

By:

Bruder, Carl E.G.;
Hirvelä, Carina;
Tapia-Paez, Isabel;
Fransson, Ingegerd;
Segraves, Richard;
Hamilton, Greg;
Zhang, Xiao Xiao;
Evans, D. Gareth;
Wallace, Andrew J.;
Baser, Michael;
Zucman-Rossi, Jessica;
Hergersberg, Martin;
Boltshauser, Eugene;
Papi, Laura;
Rouleau, Guy A.;
Poptodorov, George;
Jordanova, Albena;
Rask-Andersen, Helge;
Kluwe, Lan;
Mautner, Victor

Publication type:

Article

Genetic and cellular defects contributing to benign tumor formation in neurofibromatosis type 1.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 7, p. 1059, doi. 10.1093/hmg/9.7.1059

By:

Rutkowski, J. Lynn

Publication type:

Article

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 2, p. 237, doi. 10.1093/hmg/9.2.237

By:

Ars, Elisabet

Publication type:

Article

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 1, p. 35, doi. 10.1093/hmg/9.1.35

By:

Dorschner, Michael O.

Publication type:

Article

Novel alternatively spliced isoforms of the neurofibromatosis type 2 tumor suppressor are targeted to the nucleus and cytoplasmic granules.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 8, p. 1561, doi. 10.1093/hmg/8.8.1561

By:

Schmucker, Beatrice

Publication type:

Article

Increased expression of the NF2 tumor suppressor gene product, merlin, impairs cell motility, adhesionand spreading.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 2, p. 267, doi. 10.1093/hmg/8.2.267

By:

Gutmann, David H.;
Sherman, Larry;
Seftor, Liz;
Haipek, Carrie;
Hoang Lu, Kimberly;
Hendrix, Mary

Publication type:

Article

Mosaicism in sporadic neurofibromatosis 2 patients.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 13, doi. 10.1093/hmg/7.13.2051

By:

Kluwe, Lan;
Mautner, Victor‐F.

Publication type:

Article

NF2 gene in neurofibromatosis type 2 patients.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 13

By:

Zucman‐Rossi, Jessica;
Legoix, Patricia;
Der Sarkissian, Hera;
Cheret, Genevieve;
Sor, Frederic;
Bernardi, Alberto;
Cazes, Lucien;
Giraud, Sophie;
Ollagnon, Elisabeth;
Lenoir, Gilbert;
Thomas, Gilles

Publication type:

Article

Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1 (NF1).

Published in:

Human Molecular Genetics, 1998, v. 7, n. 8, p. 1261, doi. 10.1093/hmg/7.8.1261

By:

Klose, Anja;
Ahmadian, M. Reza;
Schuelke, Markus;
Scheffzek, Klaus;
Hoffmeyer, Sven;
Gewies, Andreas;
Schmitz, Frank;
Kaufmann, Dieter;
Peters, Hartmut;
Wittinghofer, Alfred;
Nürnberg, Peter

Publication type:

Article

Sporamin suppresses growth of human esophageal squamous cell carcinoma cells by inhibition of NF-κB via an AKT-independent pathway.

Published in:

Molecular Medicine Reports, 2017, v. 16, n. 6, p. 9620, doi. 10.3892/mmr.2017.7772

By:

CUI-JUAN QIAN;
YONG-XIAO QI;
XIAO-YING CHEN;
JU-PING ZENG;
JUN YAO

Publication type:

Article

Computational insights of K1444N substitution in GAP-related domain of NF1 gene associated with neurofibromatosis type 1 disease: a molecular modeling and dynamics approach.

Published in:

Metabolic Brain Disease, 2018, v. 33, n. 5, p. 1443, doi. 10.1007/s11011-018-0251-1

By:

Agrahari, Ashish Kumar;
Muskan, Meghana;
George Priya Doss, C.;
Siva, R.;
Zayed, Hatem

Publication type:

Article