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Items: 9

1.
Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.
L. M. Kayes, W. Burke, V. M. Riccardi, R. Bennett, P. Ehrlich, A. Rubenstein, K. Stephens
Am J Hum Genet. 1994 Mar; 54(3): 424–436.
PMCID:
PMC1918114
SummaryPage BrowsePDF–3.4M
2.
Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2
M Venturin, P Guarnieri, F Natacci, M Stabile, R Tenconi, M Clementi, C Hernandez, P Thompson, M Upadhyaya, L Larizza, P Riva
J Med Genet. 2004 Jan; 41(1): 35–41. doi: 10.1136/jmg.2003.014761
Correction in:
J Med Genet. 2004 Mar; 41(3): 239–240.
PMCID:
PMC1757270
SummaryPDF–366K
3.
Unequal meiotic crossover: a frequent cause of NF1 microdeletions.
C López Correa, H Brems, C Lázaro, P Marynen, E Legius
Am J Hum Genet. 2000 Jun; 66(6): 1969–1974. Published online 2000 Apr 20. doi: 10.1086/302920
PMCID:
PMC1378038
SummaryPDF–318K
4.
NF1 Microdeletion Syndrome: Refined FISH Characterization of Sporadic and Familial Deletions with Locus-Specific Probes
Paola Riva, Lucia Corrado, Federica Natacci, Pierangela Castorina, Bai-Li Wu, Gretchen H. Schneider, Maurizio Clementi, Romano Tenconi, Bruce R. Korf, Lidia Larizza
Am J Hum Genet. 2000 Jan; 66(1): 100–109. Published online 1999 Dec 15. doi: 10.1086/302709
PMCID:
PMC1288315
ArticlePDF–512K
5.
Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.
S A Rasmussen, S D Colman, V T Ho, C R Abernathy, P H Arn, L Weiss, C Schwartz, R A Saul, M R Wallace
J Med Genet. 1998 Jun; 35(6): 468–471. doi: 10.1136/jmg.35.6.468
PMCID:
PMC1051340
SummaryPage BrowsePDF–1018K
6.
Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism.
L M Kayes, V M Riccardi, W Burke, R L Bennett, K Stephens
J Med Genet. 1992 Oct; 29(10): 686–690. doi: 10.1136/jmg.29.10.686
PMCID:
PMC1016123
SummaryPage BrowsePDF–1.0M
7.
Elevated Risk for MPNST in NF1 Microdeletion Patients
T. De Raedt, H. Brems, P. Wolkenstein, D. Vidaud, S. Pilotti, F. Perrone, V. Mautner, S. Frahm, R. Sciot, E. Legius
Am J Hum Genet. 2003 May; 72(5): 1288–1292. Published online 2003 Mar 26. doi: 10.1086/374821
PMCID:
PMC1180281
ArticlePDF–68K
8.
Molecular Characterization and Gene Content of Breakpoint Boundaries in Patients with Neurofibromatosis Type 1 with 17q11.2 Microdeletions
Dieter E. Jenne, Sigrid Tinschert, Heike Reimann, Wolfgang Lasinger, Gundula Thiel, Horst Hameister, Hildegard Kehrer-Sawatzki
Am J Hum Genet. 2001 Sep; 69(3): 516–527. Published online 2001 Jul 20. doi: 10.1086/323043
PMCID:
PMC1235482
ArticlePDF–679K
9.
Variants of the protein PRDM9 differentially regulate a set of human meiotic recombination hotspots highly active in African populations
Ingrid L. Berg, Rita Neumann, Shriparna Sarbajna, Linda Odenthal-Hesse, Nicola J. Butler, Alec J. Jeffreys
Proc Natl Acad Sci U S A. 2011 Jul 26; 108(30): 12378–12383. Published online 2011 Jul 12. doi: 10.1073/pnas.1109531108
PMCID:
PMC3145720
ArticlePDF–415K

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