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Corinne Boehm

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Ada Hamosh; Julie E Hoover-Fong; François Schiettecatte; Nara Sobreira; V Reid Sutton; Corinne D Boehm; David Valle
PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features.
ABIMBOLA AINA; ELIZABETH WOOD; VIRGINIA CORSON; Gail Stetten; SHAMA JARI; Corinne D Boehm; Karin J Blakemore
Clinical consequences of an increasing trend of preferential use of cultured villi for molecular diagnosis by CVS.
Tadayoshi Abe; Noriyoshi Fukushima; Kieran Brune; Corinne D Boehm; Norihiro Sato; Hiroyuki Matsubayashi; Marcia Canto; Gloria M Petersen; Ralph Hruban; Michael Goggins
Genome-wide allelotypes of familial pancreatic adenocarcinomas and familial and sporadic intraductal papillary mucinous neoplasms.

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2013: Ada Hamosh; Julie E Hoover-Fong; François Schiettecatte; Nara Sobreira; V Reid Sutton; Corinne D Boehm; David Valle
PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features.
Human mutation 2013;34(4):566-71.
2008: ABIMBOLA AINA; ELIZABETH WOOD; VIRGINIA CORSON; Gail Stetten; SHAMA JARI; Corinne D Boehm; Karin J Blakemore
Clinical consequences of an increasing trend of preferential use of cultured villi for molecular diagnosis by CVS.
Prenatal diagnosis 2008;28(4):332-4.
2007: Tadayoshi Abe; Noriyoshi Fukushima; Kieran Brune; Corinne D Boehm; Norihiro Sato; Hiroyuki Matsubayashi; Marcia Canto; Gloria M Petersen; Ralph Hruban; Michael Goggins
Genome-wide allelotypes of familial pancreatic adenocarcinomas and familial and sporadic intraductal papillary mucinous neoplasms.
Clinical cancer research : an official journal of the American Association for Cancer Research 2007;13(20):6019-25.
2004: Y Zhou; Hai-Yang Law; Corinne D Boehm; CS Yoon; Garry R Cutting; Ivy S L Ng; Samuel S Chong
Robust fragile X (CGG)n genotype classification using a methylation specific triple PCR assay.
Journal of medical genetics 2004;41(4):e45.
2003: Philip D Witmer; Kimberly F Doheny; Marcia K Adams; Corinne D Boehm; Jane S Dizon; Janet L Goldstein; Tira M Templeton; Ariana M Wheaton; Penny N Dong; Elizabeth W Pugh; Robert L Nussbaum; Kent Hunter; Jennifer A Kelmenson; Lucy B Rowe; Michael J Brownstein
The development of a highly informative mouse Simple Sequence Length Polymorphism (SSLP) marker set and construction of a mouse family tree using parsimony analysis.
Genome research 2003;13(3):485-91.
2001: Stephan Kemp; A Pujol; Hans R Waterham; Bjorn M Van Geel; Corinne D Boehm; Gerald V Raymond; Garry R Cutting; Ronald J A Wanders; Hugo W Moser
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.
Human mutation 2001;18(6):499-515.
2001: J A Heath; K Beaverson; Patricia J Giardina; Corinne D Boehm; Garry R Cutting
A novel beta-thalassemia intermedia phenotype containing Nt494+129T-->C and NT494+132C-->A mutations in cis and a Nt168C-->T (beta(o) 39 point) mutation in trans.
American journal of hematology 2001;67(1):57-8.
2000: Samuel S Chong; Corinne D Boehm; Garry R Cutting; Douglas R Higgs
Simplified multiplex-PCR diagnosis of common southeast asian deletional determinants of alpha-thalassemia.
Clinical chemistry 2000;46(10):1692-5.
2000: Samuel S Chong; Corinne D Boehm; Douglas R Higgs; Garry R Cutting
Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia.
Blood 2000;95(1):360-2.
1999: Corinne D Boehm; Garry R Cutting; MB Lachtermacher; Hugo W Moser; Samuel S Chong
Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy.
Molecular genetics and metabolism 1999;66(2):128-36.
1996: Jean-Pierre J Issa; Paula M Vertino; Corinne D Boehm; Irene Newsham; Stephen B Baylin
Switch from monoallelic to biallelic human IGF2 promoter methylation during aging and carcinogenesis.
Proceedings of the National Academy of Sciences of the United States of America 1996;93(21):11757-62.
1996: Starlene Loader; P Caldwell; A Kozyra; Jeffrey C Levenkron; Corinne D Boehm; Haig Kazazian ; Peter T Rowley
Cystic fibrosis carrier population screening in the primary care setting.
American journal of human genetics 1996;59(1):234-47.
1996: K W Dumars; Corinne D Boehm; J R Eckman; Patricia J Giardina; P A Lane; F E Shafer
Practical guide to the diagnosis of thalassemia. Council of Regional Networks for Genetic Services (CORN).
American journal of medical genetics 1996;62(1):29-37.
1995: M L Kimberland; Corinne D Boehm; Haig Kazazian
Two novel beta-thalassemia alleles: poly A signal (AATAAA-->AAAA) and -92 C-->T.
Human mutation 1995;5(3):275-6.
1994: Susan E Holmes; B A Dombroski; C M Krebs; Corinne D Boehm; Haig Kazazian
A new retrotransposable human L1 element from the LRE2 locus on chromosome 1q produces a chimaeric insertion.
Nature genetics 1994;7(2):143-8.
1994: Allan L Reiss; Haig Kazazian ; C M Krebs; A McAughan; Corinne D Boehm; Michael T Abrams; D L Nelson
Frequency and stability of the fragile X premutation.
Human molecular genetics 1994;3(3):393-8.
1993: W Allen Hogge; J S Hogge; Corinne D Boehm; R C Sanders
Increased echogenicity in the fetal abdomen: use of DNA analysis to establish a diagnosis of cystic fibrosis.
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine 1993;12(8):451-4.
1993: Allan L Reiss; LS Freund; Leslie P Plotnick; T Baumgardner; K Green; A C Sozer; M Reader; Corinne D Boehm; Martha B Denckla
The effects of X monosomy on brain development: monozygotic twins discordant for Turner's syndrome.
Annals of neurology 1993;34(1):95-107.
1993: Allan L Reiss; LS Freund; Michael T Abrams; Corinne D Boehm; Haig Kazazian
Neurobehavioral effects of the fragile X premutation in adult women: a controlled study.
American journal of human genetics 1993;52(5):884-94.
1992: Myron Miller; Corinne D Boehm; M Cotton; Haig Kazazian
Usefulness of a CACA repeat polymorphism in genotype assignments in Duchenne/Becker muscular dystrophy.
American journal of medical genetics 1992;44(4):473-6.
1992: J S Chamberlain; J S Chamberlain; A E Covone; B Crandall; L S Dimnik; R G Fenwick; M Ferrari; F K Fujmura; R Govanni; D I Hoar; K Jain; C Junien; A Kiuru; A L Kneppers; P N Ray; S Richards; G Rysiecki; Stephen Abbs; E Bakker; N T Bech-Hansen; D R Bentley; M Bobrow; Corinne D Boehm; C Boileau; C T Caskey; C T Caskey; J R Chamberlain; J R Chamberlain; M L Savontaus; E Spector; I Spiga; S Tedeschi; G J van Ommen; V L Venne; P A Ward; G Rysiecki
Diagnosis of Duchenne and Becker muscular dystrophies by polymerase chain reaction. A multicenter study.
JAMA : the journal of the American Medical Association 1992;267(19):2609-15.
1992: K J Hofman; Corinne D Boehm
Familial neurofibromatosis type 1: clinical experience with DNA testing.
The Journal of pediatrics 1992;120(3):394-8.
1991: Mark I Evans; Anne E Greb; Louis Kunkel; A J Sacks; MP Johnson; Corinne D Boehm; Haig Kazazian ; Eric Hoffman
In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy.
American journal of obstetrics and gynecology 1991;165(3):728-32.
1991: L A Blonden; P M Grootscholten; Johan T den Dunnen; Egbert Bakker; Stephen Abbs; Martin Bobrow; Corinne D Boehm; Christine Van Broeckhoven; Lisa Baumbach; J Chamberlain
242 breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread.
Genomics 1991;10(3):631-9.
1990: Corinne D Boehm; Haig Kazazian
The molecular basis of genetic disease.
Current opinion in biotechnology 1990;1(2):180-7.
1990: P Parikh; M Cotton; Corinne D Boehm; Haig Kazazian
Ethnic distribution of beta-thalassaemia in Indian subcontinent.
Lancet 1990;336(8721):1006.
1990: M C Maberry; V R Klein; Corinne D Boehm; T C Warren; Larry C Gilstrap
Alpha-thalassemia: prenatal diagnosis and neonatal implications.
American journal of perinatology 1990;7(4):356-8.
1990: J C Long; Aravinda Chakravarti; Corinne D Boehm; S Antonarakis; Haig Kazazian
Phylogeny of human beta-globin haplotypes and its implications for recent human evolution.
American journal of physical anthropology 1990;81(1):113-30.
1990: Haig Kazazian ; C E Dowling; Corinne D Boehm; T C Warren; E P Economou; J Katz; S E Antonarakis
Gene defects in beta-thalassemia and their prenatal diagnosis.
Annals of the New York Academy of Sciences 1990;612():1-14.
1989: Corinne D Boehm
Use of polymerase chain reaction for diagnosis of inherited disorders.
Clinical chemistry 1989;35(9):1843-8.
1989: K J Hofman; S E Antonarakis; S Missiou-Tsangaraki; Corinne D Boehm; David Valle
Phenylketonuria in the Greek population. Haplotype analysis of the phenylalanine hydroxylase gene and identification of a PKU mutation.
Molecular biology & medicine 1989;6(3):245-50.
1989: Haig Kazazian ; D G Phillips; C E Dowling; Corinne D Boehm
Prenatal diagnosis of sickle cell anemia--1988.
Annals of the New York Academy of Sciences 1989;565():44-7.
1989: J D Chen; J Fielding Hejtmancik; Giovanni Romeo; M Lindlof; Corinne D Boehm; C T Caskey; W Kress; Kenneth H Fischbeck; M Dreier; S Serravalle
A genetic linkage map of five marker loci in and around the Duchenne muscular dystrophy locus.
Genomics 1989;4(1):105-9.
1988: B S LeRoy; N A Uhrhammer; K J Steere; Corinne D Boehm; Richard A King; S S Rich; P P Williams; S A Smith; B de Martinville
Identification of carriers of Duchenne muscular dystrophy: value of molecular analysis.
American journal of medical genetics 1988;31(3):709-21.
1988: Haig Kazazian ; Corinne D Boehm
Molecular basis and prenatal diagnosis of beta-thalassemia.
Blood 1988;72(4):1107-16.
1988: Randall K Saiki; C A Chang; C H Levenson; T C Warren; Corinne D Boehm; Haig Kazazian ; Henry A Erlich
Diagnosis of sickle cell anemia and beta-thalassemia with enzymatically amplified DNA and nonradioactive allele-specific oligonucleotide probes.
The New England journal of medicine 1988;319(9):537-41.
1988: R Anand; Corinne D Boehm; Haig Kazazian ; E F Vanin
Molecular characterization of a beta zero-thalassemia resulting from a 1.4 kilobase deletion.
Blood 1988;72(2):636-41.
1988: Corinne D Boehm
Prenatal diagnosis and carrier detection by DNA analysis.
Progress in medical genetics 1988;7():143-79.
1986: C Wong; S E Antonarakis; S C Goff; Stuart H Orkin; Corinne D Boehm; Haig Kazazian
On the origin and spread of beta-thalassemia: recurrent observation of four mutations in different ethnic groups.
Proceedings of the National Academy of Sciences of the United States of America 1986;83(17):6529-32.
1986: Kenneth H Fischbeck; A W Ritter; D L Tirschwell; Louis Kunkel; C J Bertelson; Anthony P Monaco; J Fielding Hejtmancik; Corinne D Boehm; V Ionasescu; R Ionasescu
Recombination with pERT87 (DXS164) in families with X-linked muscular dystrophy.
Lancet 1986;2(8498):104.
1986: Louis Kunkel; J Fielding Hejtmancik; C T Caskey; Astrid Speer; Anthony P Monaco; W Middlesworth; C A Colletti; C Bertelson; U Müller; M Bresnan; F Shapiro; U Tantravahi; J Speer; S A Latt; R Bartlett; Margaret Pericak-Vance; Allen D Roses; M W Thompson; P N Ray; R G Worton; Kenneth H Fischbeck; Pía Gallano; M Coulon; C Duros; J Boue; Claudine Junien; Jamel Chelly; G Hamard; Marc Jeanpierre; M Lambert; Jean-Claude Kaplan; A Emery; H Dorkins; S McGlade; Kay E Davies; Corinne D Boehm; B Arveiler; C Lemaire; G J Morgan; M J Denton; J Amos; Martin Bobrow; F Benham; E Boswinkel; C Cole; Victor Dubowitz; K Hart; S Hodgson; L Johnson; A Walker; L Roncuzzi; Alessandra Ferlini; C Nobile; Giovanni Romeo; D E Wilcox; N A Affara; M A Ferguson-Smith; M Lindolf; H Kaariainen; A de la Chapelle; V Ionasescu; Charles C Searby; R Ionasescu; Egbert Bakker; Gert-Jan B van Ommen; P L Pearson; Cheryl R Greenberg; J L Hamerton; Klaus Wrogemann; R A Doherty; R Polakowska; C Hyser; S Quirk; N Thomas; Jeffrey F Harper; B T Darras; U Francke
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy.
Nature 1986;322(6074):73-7.
1986: Haig Kazazian ; Stuart H Orkin; Corinne D Boehm; S C Goff; C Wong; C E Dowling; P E Newburger; R G Knowlton; V Brown; H Donis-Keller
Characterization of a spontaneous mutation to a beta-thalassemia allele.
American journal of human genetics 1986;38(6):860-7.
1986: Aravinda Chakravarti; K H Buetow; S E Antonarakis; P G Waber; Corinne D Boehm; Haig Kazazian
Nonuniform recombination within the human beta-globin gene cluster: A reply to B. S. Weir and W. G. Hill.
American journal of human genetics 1986;38(5):779-81.
1986: Corinne D Boehm; C E Dowling; P G Waber; Patricia J Giardina; Haig Kazazian
Use of oligonucleotide hybridization in the characterization of a beta zero-thalassemia gene (beta 37 TGG----TGA) in a Saudi Arabian family.
Blood 1986;67(4):1185-8.
1986: Haig Kazazian ; S E Antonarakis; H Youssoufian; C E Dowling; D G Phillips; C Wong; Corinne D Boehm
Comparison of deficiency alleles of the beta-globin and factor VIII:C genes: new lessons from a giant gene.
Cold Spring Harbor symposia on quantitative biology 1986;51 Pt 1():371-9.
1985: Corinne D Boehm; C E Dowling; S E Antonarakis; George R Honig; Haig Kazazian
Evidence supporting a single origin of the beta(C)-globin gene in blacks.
American journal of human genetics 1985;37(4):771-7.
1985: Corinne D Boehm; Haig Kazazian
Prenatal diagnosis of hemoglobinopathies by DNA analysis.
Critical reviews in oncology/hematology 1985;4(2):155-67.
1985: Haig Kazazian ; Corinne D Boehm; C E Dowling
Prenatal diagnosis of hemoglobinopathies by DNA analysis.
Annals of the New York Academy of Sciences 1985;445():337-48.
1984: Francis S Collins; Corinne D Boehm; P G Waber; C J Stoeckert; S M Weissman; B G Forget; Haig Kazazian
Concordance of a point mutation 5' to the G gamma globin gene with G gamma beta +. Hereditary persistence of fetal hemoglobin in the black population.
Blood 1984;64(6):1292-6.
1984: Aravinda Chakravarti; K H Buetow; S E Antonarakis; P G Waber; Corinne D Boehm; Haig Kazazian
Nonuniform recombination within the human beta-globin gene cluster.
American journal of human genetics 1984;36(6):1239-58.
1984: Corinne D Boehm; Haig Kazazian
Error in prenatal diagnosis by DNA analysis.
The New England journal of medicine 1984;311(1):58.
1984: Haig Kazazian ; Stuart H Orkin; S E Antonarakis; J P Sexton; Corinne D Boehm; S C Goff; P G Waber
Molecular characterization of seven beta-thalassemia mutations in Asian Indians.
The EMBO journal 1984;3(3):593-6.
1984: S E Antonarakis; Corinne D Boehm; G R Serjeant; C E Theisen; George J Dover; Haig Kazazian
Origin of the beta S-globin gene in blacks: the contribution of recurrent mutation or gene conversion or both.
Proceedings of the National Academy of Sciences of the United States of America 1984;81(3):853-6.
1984: Gail Stetten; B Sroka; VIRGINIA CORSON; Corinne D Boehm
Prenatal detection of an unstable ring 21 chromosome.
Human genetics 1984;68(4):310-3.
1984: Haig Kazazian ; P G Waber; Corinne D Boehm; J I Lee; S E Antonarakis; V F Fairbanks
Hemoglobin E in Europeans: further evidence for multiple origins of the beta E-globin gene.
American journal of human genetics 1984;36(1):212-7.
1983: Haig Kazazian ; Stuart H Orkin; Corinne D Boehm; J P Sexton; S E Antonarakis
beta-Thalassemia due to a deletion of the nucleotide which is substituted in the beta S-globin gene.
American journal of human genetics 1983;35(5):1028-33.
1983: Corinne D Boehm; Haig Kazazian
Prenatal diagnosis of hemoglobinopathies--1983.
Seminars in perinatology 1983;7(3):175-83.
1983: Corinne D Boehm; S E Antonarakis; J A Phillips; Gail Stetten; Haig Kazazian
Prenatal diagnosis using DNA polymorphisms. Report on 95 pregnancies at risk for sickle-cell disease or beta-thalassemia.
The New England journal of medicine 1983;308(18):1054-8.
1983: Haig Kazazian ; S E Antonarakis; T Cheng; Corinne D Boehm; P G Waber
Use of haplotype analysis in the beta-globin gene cluster to discover beta-thalassemia mutations.
Progress in clinical and biological research 1983;134():91-8.
1982: S E Antonarakis; Stuart H Orkin; Haig Kazazian ; S C Goff; Corinne D Boehm; P G Waber; J P Sexton; Harry Ostrer; V F Fairbanks; Aravinda Chakravarti
Evidence for multiple origins of the beta E-globin gene in Southeast Asia.
Proceedings of the National Academy of Sciences of the United States of America 1982;79(21):6608-11.
1982: Stuart H Orkin; P F Little; Haig Kazazian ; Corinne D Boehm
Improved detection of the sickle mutation by DNA analysis: application to prenatal diagnosis.
The New England journal of medicine 1982;307(1):32-6.
1982: Stuart H Orkin; Haig Kazazian ; S E Antonarakis; S C Goff; Corinne D Boehm; J P Sexton; P G Waber; Patricia J Giardina
Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.
Nature 1982;296(5858):627-31.
1982: Corinne D Boehm; J A Phillips; S Antonarakis; Haig Kazazian
Prenatal diagnosis by restriction analysis: methodology and experience.
Progress in clinical and biological research 1982;98():17-26.
1982: S E Antonarakis; Corinne D Boehm; Patricia J Giardina; Haig Kazazian
Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster.
Proceedings of the National Academy of Sciences of the United States of America 1982;79(1):137-41.
1981: SUSAN PANNY; Alan F Scott; Kirby D Smith; J A Phillips; Haig Kazazian ; C Conover Talbot; Corinne D Boehm
Population heterogeneity of the Hpa I restriction site associated with the beta globin gene: implications for prenatal diagnosis.
American journal of human genetics 1981;33(1):25-35.
1980: Haig Kazazian ; J A Phillips; Corinne D Boehm; T A Vik; M J Mahoney; A K Ritchey
Prenatal diagnosis of beta-thalassemias by amniocentesis: linkage analysis using multiple polymorphic restriction endonuclease sites.
Blood 1980;56(5):926-30.
1980: J A Phillips; SUSAN PANNY; Haig Kazazian ; Corinne D Boehm; Alan F Scott; Kirby D Smith
Prenatal diagnosis of sickle cell anemia by restriction and endonuclease analysis: HindIII polymorphisms in gamma-globin genes extend test applicability.
Proceedings of the National Academy of Sciences of the United States of America 1980;77(5):2853-6.