P. Cotter

发表

Telomere‐telomere (end to end) fusion of chromosomes 7 and 22 with an interstitial deletion of chromosome 7p11.2→p15.1: phenotypic consequences and possible mechanisms

P. Cotter, S. Zneimer, P. Cotter, 2000, Clinical genetics.

Periventricular heterotopia associated with chromosome 5p anomalies

C. Walsh, S. Packman, O. Glenn, 2003, Neurology.

Screening for the mitochondrial DNA A3243G mutation in children with insulin-dependent diabetes mellitus.

R. Desnick, J. Abdenur, F. Ginsberg-Fellner, 1997, Metabolism: clinical and experimental.

Exclusion of PTPN11 mutations in Costello syndrome: further evidence for distinct genetic etiologies for Noonan, cardio–facio–cutaneous and Costello syndromes

M. Tartaglia, G. Zampino, K. Rauen, 2003, Clinical genetics.

Prader–Willi syndrome resulting from an unbalanced translocation: characterization by array comparative genomic hybridization

D. Pinkel, K. Rauen, D. Albertson, 2004, Clinical genetics.

Prenatal diagnosis and characterization of an unbalanced whole arm translocation resulting in monosomy for 18p

P. Cotter, Y. Qu, M. Norton, 2001, Clinical genetics.

ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal

C. Schwartz, E. Marco, R. Jeremy, 2009, BMJ Case Reports.

sensory hyperarousal associated with X linked mental retardation and ARHGEF9 disruption in a female patient is

C. Schwartz, E. Marco, R. Jeremy, 2009 .

ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal

C. Schwartz, E. Marco, R. Jeremy, 2007, Journal of Medical Genetics.

Tandem duplication mosaicism: characterization of a mosaic dup(5q) and review

M. Golabi, K. Rauen, P. Cotter, 2001, Clinical genetics.

Interstitial deletions of chromosome 6q: genotype–phenotype correlation utilizing array CGH

K. Rauen, A. Zanko, F. Conte, 2007, Clinical genetics.

Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies

D. Pinkel, A. J. Barkovich, D. Pinkel, 2005, Neurology.

Prenatal diagnosis of de novo X;autosome translocations

P. Cotter, L. Abrams, 2004, Clinical genetics.

Characterization of a de novo unbalanced chromosome rearrangement by comparative genomic hybridization and fluorescence in situ hybridization.

K. Hirschhorn, R. Desnick, B. Levy, 1997, Cytogenetics and cell genetics.

Physical mapping of the human connexin 40 (GJA5), flavin-containing monooxygenase 5, and natriuretic peptide receptor a genes on 1q21.

J. Zhang, R. Desnick, B. Gelb, 1997, Genomics.