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Philip Cotter

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Angie Jelin; Hazel Perry; Jacob Hogue; Snehlata Oberoi; Philip D Cotter; Ophir D Klein
Clefting in trisomy 9p patients: genotype-phenotype correlation using microarray comparative genomic hybridization.
Taku Tokuyasu; Philip D Cotter; Richard Segraves; Jeffrey Harris; Melissa E Elder; Marcos Gonzales; Daniel Pinkel; Donna G Albertson; Katherine A Rauen
Detection of single clone deletions using array CGH: identification of submicroscopic deletions in the 22q11.2 deletion syndrome as a model system.
Ophir D Klein; Philip D Cotter; Mathew W Moore; A Zanko; M Gilats; C J Epstein; F Conte; Katherine A Rauen
Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH.

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All Publications

2010: Angie Jelin; Hazel Perry; Jacob Hogue; Snehlata Oberoi; Philip D Cotter; Ophir D Klein
Clefting in trisomy 9p patients: genotype-phenotype correlation using microarray comparative genomic hybridization.
The Journal of craniofacial surgery 2010;21(5):1376-9.
2007: Taku Tokuyasu; Philip D Cotter; Richard Segraves; Jeffrey Harris; Melissa E Elder; Marcos Gonzales; Daniel Pinkel; Donna G Albertson; Katherine A Rauen
Detection of single clone deletions using array CGH: identification of submicroscopic deletions in the 22q11.2 deletion syndrome as a model system.
American journal of medical genetics. Part A 2007;143A(9):925-32.
2007: Ophir D Klein; Philip D Cotter; Mathew W Moore; A Zanko; M Gilats; C J Epstein; F Conte; Katherine A Rauen
Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH.
Clinical genetics 2007;71(3):260-6.
2006: Eva M McGhee; Philip D Cotter; Jingly F Weier; Jennifer Berline; Mary A Turner; Matthew Gormley; Joel Palefsky
Molecular cytogenetic characterization of human papillomavirus16-transformed foreskin keratinocyte cell line 16-MT.
Cancer genetics and cytogenetics 2006;168(1):36-43.
2006: Anne L Estep; William E Tidyman; Michael A Teitell; Philip D Cotter; Katherine A Rauen
HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.
American journal of medical genetics. Part A 2006;140(1):8-16.
2006: Alejandro Iglesias; Katherine A Rauen; Donna G Albertson; Daniel Pinkel; Philip D Cotter
Duplication of distal 20q: clinical, cytogenetic and array CGH. Characterization of a new case.
Clinical dysmorphology 2006;15(1):19-23.
2005: Elliott H Sherr; R Owen; Donna G Albertson; Daniel Pinkel; Philip D Cotter; Anne Slavotinek; Steven W Hetts; Rita J Jeremy; G Schilmoeller; Kathryn J Schilmoeller; M Wakahiro; A James Barkovich
Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies.
Neurology 2005;65(9):1496-8.
2005: Ophir D Klein; Philip D Cotter; Ann M Schmidt; David P Bick; William E Tidyman; Donna G Albertson; Daniel Pinkel; Katherine A Rauen
Interstitial deletion of chromosome 12q: genotype-phenotype correlation of two patients utilizing array comparative genomic hybridization.
American journal of medical genetics. Part A 2005;138(4):349-54.
2005: Jaime L Betz; Ahmed S Behairy; Pedro Rabionet; Budi Tirtorahardjo; Mathew W Moore; Philip D Cotter
Acquired inv(9): what is its significance?
Cancer genetics and cytogenetics 2005;160(1):76-8.
2005: Sabrina F Cheng; Katherine A Rauen; Daniel Pinkel; Donna G Albertson; Philip D Cotter
Xq chromosome duplication in males: clinical, cytogenetic and array CGH characterization of a new case and review.
American journal of medical genetics. Part A 2005;135(3):308-13.
2005: Ophir D Klein; Kendall Backstrand; Philip D Cotter; Elysa Marco; Elliott H Sherr; Anne Slavotinek
Case report: Y;6 translocation with deletion of 6p.
Clinical dysmorphology 2005;14(2):93-6.
2005: Philip D Cotter; Kathryn Drexler; Amy L Corley; Susan M Covert; Jessica S Moland; Inna J Govberg; Mary E Norton
Prenatal diagnosis of minute supernumerary marker chromosomes.
Gynecologic and obstetric investigation 2005;60(1):27-38.
2004: Ophir D Klein; Philip D Cotter; Donna G Albertson; Daniel Pinkel; William E Tidyman; Mathew W Moore; Katherine A Rauen
Prader-Willi syndrome resulting from an unbalanced translocation: characterization by array comparative genomic hybridization.
Clinical genetics 2004;65(6):477-82.
2004: Liane Abrams; Philip D Cotter
Prenatal diagnosis of de novo X;autosome translocations.
Clinical genetics 2004;65(5):423-8.
2003: Philip D Cotter; Thomas J Musci; Mary E Norton
Rapid prenatal diagnosis in translocation carriers by interphase FISH with chromosome-specific subtelomere probes.
American journal of medical genetics. Part A 2003;122A(1):1-5.
2003: Anita Ki; Katherine A Rauen; Lauri D Black; Dana R Kostiner; Per L Sandberg; Daniel Pinkel; Donna G Albertson; Mary E Norton; Philip D Cotter
Ring 21 chromosome and a satellited 1p in the same patient: novel origin for an ectopic NOR.
American journal of medical genetics. Part A 2003;120A(3):365-9.
2003: Soumeya Bekri; Alison May; Philip D Cotter; Ala I Al-Sabah; Xiaojun Guo; Gillian S Masters; David F Bishop
A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia.
Blood 2003;102(2):698-704.
2003: Susan Murphy; Andrew A Wylie; Karen J Coveler; Philip D Cotter; Peter Papenhausen; V Reid Sutton; Lisa Shaffer; Randy L Jirtle
Epigenetic detection of human chromosome 14 uniparental disomy.
Human mutation 2003;22(1):92-7.
2003: Mathew W Moore; Lisa G Dietz; Budi Tirtorahardjo; Philip D Cotter
A multiplex methylation PCR assay for identification of uniparental disomy of chromosome 7.
Human mutation 2003;21(6):645-8.
2003: Marco Tartaglia; Philip D Cotter; Giuseppe Zampino; Bruce D Gelb; K A Rauen
Exclusion of PTPN11 mutations in Costello syndrome: further evidence for distinct genetic etiologies for Noonan, cardio-facio-cutaneous and Costello syndromes.
Clinical genetics 2003;63(5):423-6.
2003: Lisa G Dietz; Andrew A Wylie; K A Rauen; Susan Murphy; Randy L Jirtle; Philip D Cotter
Exclusion of maternal uniparental disomy of chromosome 14 in patients referred for Prader-Willi syndrome using a multiplex methylation polymerase chain reaction assay.
Journal of medical genetics 2003;40(4):e46.
2003: Volney L Sheen; James W Wheless; Adria Bodell; E Braverman; Philip D Cotter; K A Rauen; O Glenn; Kara Weisiger; Seymour Packman; Christopher Walsh; Elliott H Sherr
Periventricular heterotopia associated with chromosome 5p anomalies.
Neurology 2003;60(6):1033-6.
2003: Katherine A Rauen; Mahin Golabi; Philip D Cotter
Fertility in a female with mosaic trisomy 8.
Fertility and sterility 2003;79(1):206-8.
2002: Katherine A Rauen; Donna G Albertson; Daniel Pinkel; Philip D Cotter
Additional patient with del(12)(q21.2q22): further evidence for a candidate region for cardio-facio-cutaneous syndrome?
American journal of medical genetics 2002;110(1):51-6.
2002: Dana R Kostiner; H Nguyen; V A Cox; Philip D Cotter
Stabilization of a terminal inversion duplication of 8p by telomere capture from 18q.
Cytogenetic and genome research 2002;98(1):9-12.
2001: Katherine A Rauen; SM Bitts; L Li; Mahin Golabi; Philip D Cotter
Tandem duplication mosaicism: characterization of a mosaic dup(5q) and review.
Clinical genetics 2001;60(5):366-70.
2001: G Tung; S M Covert; K L Malabed; MM Wohlferd; Karen Beckerman; James D Goldberg; Philip D Cotter
Minute supernumerary marker chromosomes identified in two patients with a related, larger pseudodicentric chromosome.
American journal of medical genetics 2001;103(3):193-7.
2001: J L Skinner; Inna J Govberg; R T DePalma; Philip D Cotter
Heteromorphisms of chromosome 18 can obscure detection of fetal aneuploidy by interphase FISH.
Prenatal diagnosis 2001;21(8):702-4.
2001: Philip D Cotter; S Kaffe; L Li; IF Gershin; Kurt Hirschhorn
Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4.
American journal of medical genetics 2001;102(1):76-80.
2001: E Chen; Philip D Cotter; R A Cohen; R S Lachman
Characterization of a long-term survivor with Stüve-Wiedemann syndrome and mosaicism of a supernumerary marker chromosome.
American journal of medical genetics 2001;101(3):240-5.
2001: Edward J Lammer; D R Punglia; A E Fuchs; A G Rowe; Philip D Cotter
Inherited duplication of Xq27.2-->qter: phenocopy of infantile Prader-Willi syndrome.
Clinical dysmorphology 2001;10(2):141-4.
2001: Eva M McGhee; Y Qu; MM Wohlferd; James D Goldberg; Mary E Norton; Philip D Cotter
Prenatal diagnosis and characterization of an unbalanced whole arm translocation resulting in monosomy for 18p.
Clinical genetics 2001;59(4):274-8.
2001: Philip D Cotter; T J Musci
Interphase FISH with chromosome-specific protelomere probes for rapid prenatal diagnosis in a reciprocal translocation carrier.
Prenatal diagnosis 2001;21(3):171-5.
2000: Philip D Cotter; E Ko; S K Larabell; A W Rademaker; R H Martin
Segregation of a supernumerary del(15) marker chromosome in sperm.
Clinical genetics 2000;58(6):488-92.
2000: Inna J Govberg; J L Wolf; Philip D Cotter
Trisomy 4 and double minutes in acute myeloid leukemia: further evidence that double minutes can occur as the primary cytogenetic abnormality.
Cancer genetics and cytogenetics 2000;121(2):212-5.
2000: A G Rowe; Liane Abrams; Y Qu; E Chen; Philip D Cotter
Tetrasomy 15q25-->qter: cytogenetic and molecular characterization of an analphoid supernumerary marker chromosome.
American journal of medical genetics 2000;93(5):393-8.
2000: Eva M McGhee; C J Klump; SM Bitts; Philip D Cotter; Edward J Lammer
Candidate region for Coffin-Siris syndrome at 7q32-->34.
American journal of medical genetics 2000;93(3):241-3.
2000: Katherine A Rauen; Philip D Cotter; SM Bitts; Victoria A Cox; Mahin Golabi
Cardio-facio-cutaneous syndrome phenotype in an individual with an interstitial deletion of 12q: identification of a candidate region for CFC syndrome.
American journal of medical genetics 2000;93(3):219-22.
2000: Eva M McGhee; N R Cohen; J L Wolf; C T Ledesma; Philip D Cotter
Monosomy 16 as the sole abnormality in myeloid malignancies.
Cancer genetics and cytogenetics 2000;118(2):163-6.
1999: Philip D Cotter; C T Ledesma; Lisa G Dietz; S Pusso; MM Wohlferd; James D Goldberg
Prenatal diagnosis of supernumerary marker 15 chromosomes and exclusion of uniparental disomy for chromosome 15.
Prenatal diagnosis 1999;19(8):721-6.
1999: Philip D Cotter; A May; L Li; A I Al-Sabah; E J Fitzsimons; M Cazzola; David F Bishop
Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis.
Blood 1999;93(5):1757-69.
1998: Philip D Cotter; A Babu; JP Willner; Robert J Desnick
Prenatal diagnosis and outcome of mosaicism for a de novo unbalanced translocation identified in amniocytes.
Prenatal diagnosis 1998;18(8):857-61.
1998: Philip D Cotter; Kurt Hirschhorn
Chimerism detected by an unbalanced chromosome translocation: an alternative hypothesis.
Clinical genetics 1998;53(3):230.
1997: Patricia Ashton-Prolla; IF Gershin; A Babu; R L Neu; Randi E Zinberg; JP Willner; Robert J Desnick; Philip D Cotter
Prenatal diagnosis of a familial interchromosomal insertion of Y chromosome heterochromatin.
American journal of medical genetics 1997;73(4):470-3.
1997: S R Manea; IF Gershin; A Babu; JP Willner; Robert J Desnick; Philip D Cotter
Mosaicism for a small supernumerary ring X chromosome in a dysmorphic, growth-retarded male: mos47,XXY/48,XXY, +r(X).
Clinical genetics 1997;52(6):432-5.
1997: Philip D Cotter; Leslie D McCurdy; IF Gershin; A Babu; JP Willner; Robert J Desnick
Prenatal detection and molecular characterization of a de novo duplication of the distal long arm of chromosome 19.
American journal of medical genetics 1997;71(3):325-8.
1997: Philip D Cotter; S Kaffe; Leslie D McCurdy; M Jhaveri; JP Willner; Kurt Hirschhorn
Paternal uniparental disomy for chromosome 14: a case report and review.
American journal of medical genetics 1997;70(1):74-9.
1997: Joanna P Davies; Philip D Cotter; Yiannis A Ioannou
Cloning and mapping of human Rab7 and Rab9 cDNA sequences and identification of a Rab9 pseudogene.
Genomics 1997;41(1):131-4.
1997: Bruce D Gelb; J Zhang; Philip D Cotter; IF Gershin; Robert J Desnick
Physical mapping of the human connexin 40 (GJA5), flavin-containing monooxygenase 5, and natriuretic peptide receptor a genes on 1q21.
Genomics 1997;39(3):409-11.
1997: TJ Wright; DO Ricke; K Denison; S Abmayr; Philip D Cotter; Kurt Hirschhorn; M Keinänen; Donna McDonald-McGinn; M Somer; Nancy B Spinner; T Yang-Feng; Elaine Zackai; Michael R Altherr
A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region.
Human molecular genetics 1997;6(2):317-24.
1997: Philip D Cotter; A Babu; Leslie D McCurdy; Michele Caggana; JP Willner; Robert J Desnick
Homozygosity for pericentric inversions of chromosome 9. Prenatal diagnosis of two cases.
Annales de génétique 1997;40(4):222-6.
1997: Alejandro Iglesias; Leslie D McCurdy; I A Glass; Philip D Cotter; M Illueca; A Perenyi; Claude Sansaricq
Mosaic trisomy 14 with hepatic involvement.
Annales de génétique 1997;40(2):104-8.
1997: Brynn Levy; IF Gershin; Robert J Desnick; A Babu; Bruce D Gelb; Kurt Hirschhorn; Philip D Cotter
Characterization of a de novo unbalanced chromosome rearrangement by comparative genomic hybridization and fluorescence in situ hybridization.
Cytogenetics and cell genetics 1997;76(1-2):68-71.
1996: Philip D Cotter; M Caggana; JP Willner; A Babu; Robert J Desnick
Prenatal diagnosis of a fetus with two balanced de novo chromosome rearrangements.
American journal of medical genetics 1996;66(2):197-9.
1995: Philip D Cotter; A May; E J Fitzsimons; T Houston; B E Woodcock; A I al-Sabah; L Wong; David F Bishop
Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts.
The Journal of clinical investigation 1995;96(4):2090-6.
1995: S S Bottomley; Brian K May; Timothy C Cox; Philip D Cotter; David F Bishop
Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia.
Journal of bioenergetics and biomembranes 1995;27(2):161-8.
1995: Philip D Cotter; Harry A Drabkin; T Varkony; David I Smith; David F Bishop
Assignment of the human housekeeping delta-aminolevulinate synthase gene (ALAS1) to chromosome band 3p21.1 by PCR analysis of somatic cell hybrids.
Cytogenetics and cell genetics 1995;69(3-4):207-8.
1994: Philip D Cotter; D L Rucknagel; David F Bishop
X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley.
Blood 1994;84(11):3915-24.
1994: P E Jardine; Philip D Cotter; S A Johnson; E J Fitzsimons; Linda Tyfield; PW Lunt; David F Bishop
Pyridoxine-refractory congenital sideroblastic anaemia with evidence for autosomal inheritance: exclusion of linkage to ALAS2 at Xp11.21 by polymorphism analysis.
Journal of medical genetics 1994;31(3):213-8.
1992: Philip D Cotter; H F Willard; J L Gorski; David F Bishop
Assignment of human erythroid delta-aminolevulinate synthase (ALAS2) to a distal subregion of band Xp11.21 by PCR analysis of somatic cell hybrids containing X; autosome translocations.
Genomics 1992;13(1):211-2.
1992: Philip D Cotter; M Baumann; David F Bishop
Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency.
Proceedings of the National Academy of Sciences of the United States of America 1992;89(9):4028-32.