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Items: 1 to 20 of 25

1.

Emerging genotype-phenotype relationships in patients with large NF1 deletions.

Kehrer-Sawatzki H, Mautner VF, Cooper DN.

Hum Genet. 2017 Apr;136(4):349-376. doi: 10.1007/s00439-017-1766-y. Epub 2017 Feb 17. Review.

2.

Whole Exome Sequencing of Growing and Non-Growing Cutaneous Neurofibromas from a Single Patient with Neurofibromatosis Type 1.

Faden DL, Asthana S, Tihan T, DeRisi J, Kliot M.

PLoS One. 2017 Jan 18;12(1):e0170348. doi: 10.1371/journal.pone.0170348. eCollection 2017. Erratum in: PLoS One. 2017 Feb 16;12 (2):e0172620.

3.

Neurofibromatosis type 1 and pregnancy: The transformation of a nodular to cystic neurofibroma in the cervical region.

Ramos-Zúñiga R, Saldaña-Koppel DA.

Surg Neurol Int. 2015 Oct 8;6(Suppl 19):S487-9. doi: 10.4103/2152-7806.166889. eCollection 2015.

4.

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Rojnueangnit K, Xie J, Gomes A, Sharp A, Callens T, Chen Y, Liu Y, Cochran M, Abbott MA, Atkin J, Babovic-Vuksanovic D, Barnett CP, Crenshaw M, Bartholomew DW, Basel L, Bellus G, Ben-Shachar S, Bialer MG, Bick D, Blumberg B, Cortes F, David KL, Destree A, Duat-Rodriguez A, Earl D, Escobar L, Eswara M, Ezquieta B, Frayling IM, Frydman M, Gardner K, Gripp KW, Hernández-Chico C, Heyrman K, Ibrahim J, Janssens S, Keena BA, Llano-Rivas I, Leppig K, McDonald M, Misra VK, Mulbury J, Narayanan V, Orenstein N, Galvin-Parton P, Pedro H, Pivnick EK, Powell CM, Randolph L, Raskin S, Rosell J, Rubin K, Seashore M, Schaaf CP, Scheuerle A, Schultz M, Schorry E, Schnur R, Siqveland E, Tkachuk A, Tonsgard J, Upadhyaya M, Verma IC, Wallace S, Williams C, Zackai E, Zonana J, Lazaro C, Claes K, Korf B, Martin Y, Legius E, Messiaen L.

Hum Mutat. 2015 Nov;36(11):1052-63. doi: 10.1002/humu.22832. Epub 2015 Aug 21.

6.

Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.

Pierpont ME, Magoulas PL, Adi S, Kavamura MI, Neri G, Noonan J, Pierpont EI, Reinker K, Roberts AE, Shankar S, Sullivan J, Wolford M, Conger B, Santa Cruz M, Rauen KA.

Pediatrics. 2014 Oct;134(4):e1149-62. doi: 10.1542/peds.2013-3189. Epub 2014 Sep 1. Review.

7.

The NF1 gene revisited - from bench to bedside.

Yap YS, McPherson JR, Ong CK, Rozen SG, Teh BT, Lee AS, Callen DF.

Oncotarget. 2014 Aug 15;5(15):5873-92. Review.

8.

Disorders caused by chromosome abnormalities.

Theisen A, Shaffer LG.

Appl Clin Genet. 2010 Dec 10;3:159-74. doi: 10.2147/TACG.S8884. Print 2010.

9.

Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.

Delio M, Guo T, McDonald-McGinn DM, Zackai E, Herman S, Kaminetzky M, Higgins AM, Coleman K, Chow C, Jalbrzikowski M, Bearden CE, Bailey A, Vangkilde A, Olsen L, Olesen C, Skovby F, Werge TM, Templin L, Busa T, Philip N, Swillen A, Vermeesch JR, Devriendt K, Schneider M, Dahoun S, Eliez S, Schoch K, Hooper SR, Shashi V, Samanich J, Marion R, van Amelsvoort T, Boot E, Klaassen P, Duijff SN, Vorstman J, Yuen T, Silversides C, Chow E, Bassett A, Frisch A, Weizman A, Gothelf D, Niarchou M, van den Bree M, Owen MJ, Suñer DH, Andreo JR, Armando M, Vicari S, Digilio MC, Auton A, Kates WR, Wang T, Shprintzen RJ, Emanuel BS, Morrow BE.

Am J Hum Genet. 2013 Mar 7;92(3):439-47. doi: 10.1016/j.ajhg.2013.01.018. Epub 2013 Feb 28. Erratum in: Am J Hum Genet. 2013 Apr 4;92(4):637. Jarlbrzkowski, Maria [corrected to Jalbrzikowski, Maria].

10.

Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

Nowaczyk MJ, Thompson BA, Zeesman S, Moog U, Sanchez-Lara PA, Magoulas PL, Falk RE, Hoover-Fong JE, Batista DA, Amudhavalli SM, White SM, Graham GE, Rauen KA.

Clin Genet. 2014 Feb;85(2):138-46. doi: 10.1111/cge.12116. Epub 2013 Apr 2.

11.

An emerging role for microRNAs in NF1 tumorigenesis.

Sedani A, Cooper DN, Upadhyaya M.

Hum Genomics. 2012 Nov 17;6:23. doi: 10.1186/1479-7364-6-23. Review.

12.

The pathoetiology of neurofibromatosis 1.

Jouhilahti EM, Peltonen S, Heape AM, Peltonen J.

Am J Pathol. 2011 May;178(5):1932-9. doi: 10.1016/j.ajpath.2010.12.056. Epub 2011 Mar 31. Review.

13.

An Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion.

Praxedes LA, Pereira FM, Mazzeu JF, Costa SS, Bertola DR, Kim CA, Vianna-Morgante AM, Otto PA.

Mol Syndromol. 2010 Sep;1(3):133-135. Epub 2010 Sep 14.

14.

Identification of genes potentially involved in the increased risk of malignancy in NF1-microdeleted patients.

Pasmant E, Masliah-Planchon J, Lévy P, Laurendeau I, Ortonne N, Parfait B, Valeyrie-Allanore L, Leroy K, Wolkenstein P, Vidaud M, Vidaud D, Bièche I.

Mol Med. 2011 Jan-Feb;17(1-2):79-87. doi: 10.2119/molmed.2010.00079. Epub 2010 Sep 10.

15.

Emerging pharmacotherapies for neurodevelopmental disorders.

Wetmore DZ, Garner CC.

J Dev Behav Pediatr. 2010 Sep;31(7):564-81. doi: 10.1097/DBP.0b013e3181ee3833. Review.

16.

Detection and characterization of NF1 microdeletions by custom high resolution array CGH.

Pasmant E, Sabbagh A, Masliah-Planchon J, Haddad V, Hamel MJ, Laurendeau I, Soulier J, Parfait B, Wolkenstein P, Bièche I, Vidaud M, Vidaud D.

J Mol Diagn. 2009 Nov;11(6):524-9. doi: 10.2353/jmoldx.2009.090064. Epub 2009 Sep 18.

17.

Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination.

Steinmann K, Cooper DN, Kluwe L, Chuzhanova NA, Senger C, Serra E, Lazaro C, Gilaberte M, Wimmer K, Mautner VF, Kehrer-Sawatzki H.

Am J Hum Genet. 2007 Dec;81(6):1201-20. Epub 2007 Oct 31.

18.

An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.

Upadhyaya M, Huson SM, Davies M, Thomas N, Chuzhanova N, Giovannini S, Evans DG, Howard E, Kerr B, Griffiths S, Consoli C, Side L, Adams D, Pierpont M, Hachen R, Barnicoat A, Li H, Wallace P, Van Biervliet JP, Stevenson D, Viskochil D, Baralle D, Haan E, Riccardi V, Turnpenny P, Lazaro C, Messiaen L.

Am J Hum Genet. 2007 Jan;80(1):140-51. Epub 2006 Dec 8.

19.

Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature.

Mensink KA, Ketterling RP, Flynn HC, Knudson RA, Lindor NM, Heese BA, Spinner RJ, Babovic-Vuksanovic D.

J Med Genet. 2006 Feb;43(2):e8. Review.

20.

Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH.

Mantripragada KK, Thuresson AC, Piotrowski A, Díaz de Ståhl T, Menzel U, Grigelionis G, Ferner RE, Griffiths S, Bolund L, Mautner V, Nordling M, Legius E, Vetrie D, Dahl N, Messiaen L, Upadhyaya M, Bruder CE, Dumanski JP.

J Med Genet. 2006 Jan;43(1):28-38. Epub 2005 Jun 8.

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