Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

    Results: 1 to 50 of 443

    1.

    Molecular order in mucolipidosis II and III nomenclature.

    Cathey SS, Kudo M, Tiede S, Raas-Rothschild A, Braulke T, Beck M, Taylor HA, Canfield WM, Leroy JG, Neufeld EF, McKusick VA.

    Am J Med Genet A. 2008 Feb 15;146A(4):512-3. No abstract available. PMID: 18203164 [PubMed - indexed for MEDLINE]Related articles

    2.

    Bardet-Biedl Syndrome in an African-American patient: should the diagnostic criteria be expanded to include hydrometrocolpos?

    Toma HS, Tan PL, McKusick VA, Katsanis N, Adams NA.

    Ophthalmic Genet. 2007 Jun;28(2):95-9.PMID: 17558852 [PubMed - indexed for MEDLINE]Related articles

    3.

    Mendelian Inheritance in Man and its online version, OMIM.

    McKusick VA.

    Am J Hum Genet. 2007 Apr;80(4):588-604. Epub 2007 Mar 8. No abstract available. PMID: 17357067 [PubMed - indexed for MEDLINE]Related articlesFree article

    4.

    A 60-year tale of spots, maps, and genes.

    McKusick VA.

    Annu Rev Genomics Hum Genet. 2006;7:1-27. Review.PMID: 16824022 [PubMed - indexed for MEDLINE]Related articles

    5.

    The Gordon Wilson Lecture: The clinical legacy of Jonathan Hutchinson (1828-1913): syndromology and dysmorphology meet genomics.

    McKusick VA.

    Trans Am Clin Climatol Assoc. 2005;116:15-38. No abstract available. PMID: 16555603 [PubMed - indexed for MEDLINE]Related articlesFree article

    6.

    Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders.

    Hamosh A, Scott AF, Amberger JS, Bocchini CA, McKusick VA.

    Nucleic Acids Res. 2005 Jan 1;33(Database issue):D514-7.PMID: 15608251 [PubMed - indexed for MEDLINE]Related articlesFree article

    7.

    Karl Landsteiner Award. From Karl Landsteiner to Peter Agre: 100 years in the history of blood group genetics.

    McKusick VA.

    Transfusion. 2004 Sep;44(9):1370-6. No abstract available. PMID: 15318864 [PubMed - indexed for MEDLINE]Related articles

    8.

    Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.

    Schwarze U, Hata R, McKusick VA, Shinkai H, Hoyme HE, Pyeritz RE, Byers PH.

    Am J Hum Genet. 2004 May;74(5):917-30. Epub 2004 Apr 9.PMID: 15077201 [PubMed - indexed for MEDLINE]Related articlesFree article

    9.

    The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases.

    Ridanpää M, Jain P, McKusick VA, Francomano CA, Kaitila I.

    Am J Med Genet C Semin Med Genet. 2003 Aug 15;121C(1):81-3.PMID: 12888988 [PubMed - indexed for MEDLINE]Related articles

    10.

    Medical genetic studies in the Amish: historical perspective.

    Francomano CA, McKusick VA, Biesecker LG.

    Am J Med Genet C Semin Med Genet. 2003 Aug 15;121C(1):1-4. No abstract available. PMID: 12888981 [PubMed - indexed for MEDLINE]Related articles

    11.

    A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21.

    Boyadjiev SA, Justice CM, Eyaid W, McKusick VA, Lachman RS, Chowdry AB, Jabak M, Zwaan J, Wilson AF, Jabs EW.

    Hum Genet. 2003 Jul;113(1):1-9. Epub 2003 Apr 3.PMID: 12677423 [PubMed - indexed for MEDLINE]Related articles

    12.

    SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.

    Patel H, Cross H, Proukakis C, Hershberger R, Bork P, Ciccarelli FD, Patton MA, McKusick VA, Crosby AH.

    Nat Genet. 2002 Aug;31(4):347-8. Epub 2002 Jul 22.PMID: 12134148 [PubMed - indexed for MEDLINE]Related articles

    13.

    Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders.

    Hamosh A, Scott AF, Amberger J, Bocchini C, Valle D, McKusick VA.

    Nucleic Acids Res. 2002 Jan 1;30(1):52-5.PMID: 11752252 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    The anatomy of the human genome: a neo-Vesalian basis for medicine in the 21st century.

    McKusick VA.

    JAMA. 2001 Nov 14;286(18):2289-95.PMID: 11710895 [PubMed - indexed for MEDLINE]Related articles

    15.

    A. McGehee Harvey: 30 July 1911 - 8 May 1998.

    McKusick VA.

    Proc Am Philos Soc. 2000 Mar;144(1):85-94. No abstract available. PMID: 11624450 [PubMed - indexed for MEDLINE]Related articles

    16.

    Genomics and medicine. Dissecting human disease in the postgenomic era.

    Peltonen L, McKusick VA.

    Science. 2001 Feb 16;291(5507):1224-9. No abstract available. PMID: 11233446 [PubMed - indexed for MEDLINE]Related articlesFree article

    17.

    The sequence of the human genome.

    Venter JC, Adams MD, Myers EW, Li PW, Mural RJ, Sutton GG, Smith HO, Yandell M, Evans CA, Holt RA, Gocayne JD, Amanatides P, Ballew RM, Huson DH, Wortman JR, Zhang Q, Kodira CD, Zheng XH, Chen L, Skupski M, Subramanian G, Thomas PD, Zhang J, Gabor Miklos GL, Nelson C, Broder S, Clark AG, Nadeau J, McKusick VA, Zinder N, Levine AJ, Roberts RJ, Simon M, Slayman C, Hunkapiller M, Bolanos R, Delcher A, Dew I, Fasulo D, Flanigan M, Florea L, Halpern A, Hannenhalli S, Kravitz S, Levy S, Mobarry C, Reinert K, Remington K, Abu-Threideh J, Beasley E, Biddick K, Bonazzi V, Brandon R, Cargill M, Chandramouliswaran I, Charlab R, Chaturvedi K, Deng Z, Di Francesco V, Dunn P, Eilbeck K, Evangelista C, Gabrielian AE, Gan W, Ge W, Gong F, Gu Z, Guan P, Heiman TJ, Higgins ME, Ji RR, Ke Z, Ketchum KA, Lai Z, Lei Y, Li Z, Li J, Liang Y, Lin X, Lu F, Merkulov GV, Milshina N, Moore HM, Naik AK, Narayan VA, Neelam B, Nusskern D, Rusch DB, Salzberg S, Shao W, Shue B, Sun J, Wang Z, Wang A, Wang X, Wang J, Wei M, Wides R, Xiao C, Yan C, Yao A, Ye J, Zhan M, Zhang W, Zhang H, Zhao Q, Zheng L, Zhong F, Zhong W, Zhu S, Zhao S, Gilbert D, Baumhueter S, Spier G, Carter C, Cravchik A, Woodage T, Ali F, An H, Awe A, Baldwin D, Baden H, Barnstead M, Barrow I, Beeson K, Busam D, Carver A, Center A, Cheng ML, Curry L, Danaher S, Davenport L, Desilets R, Dietz S, Dodson K, Doup L, Ferriera S, Garg N, Gluecksmann A, Hart B, Haynes J, Haynes C, Heiner C, Hladun S, Hostin D, Houck J, Howland T, Ibegwam C, Johnson J, Kalush F, Kline L, Koduru S, Love A, Mann F, May D, McCawley S, McIntosh T, McMullen I, Moy M, Moy L, Murphy B, Nelson K, Pfannkoch C, Pratts E, Puri V, Qureshi H, Reardon M, Rodriguez R, Rogers YH, Romblad D, Ruhfel B, Scott R, Sitter C, Smallwood M, Stewart E, Strong R, Suh E, Thomas R, Tint NN, Tse S, Vech C, Wang G, Wetter J, Williams S, Williams M, Windsor S, Winn-Deen E, Wolfe K, Zaveri J, Zaveri K, Abril JF, Guigó R, Campbell MJ, Sjolander KV, Karlak B, Kejariwal A, Mi H, Lazareva B, Hatton T, Narechania A, Diemer K, Muruganujan A, Guo N, Sato S, Bafna V, Istrail S, Lippert R, Schwartz R, Walenz B, Yooseph S, Allen D, Basu A, Baxendale J, Blick L, Caminha M, Carnes-Stine J, Caulk P, Chiang YH, Coyne M, Dahlke C, Mays A, Dombroski M, Donnelly M, Ely D, Esparham S, Fosler C, Gire H, Glanowski S, Glasser K, Glodek A, Gorokhov M, Graham K, Gropman B, Harris M, Heil J, Henderson S, Hoover J, Jennings D, Jordan C, Jordan J, Kasha J, Kagan L, Kraft C, Levitsky A, Lewis M, Liu X, Lopez J, Ma D, Majoros W, McDaniel J, Murphy S, Newman M, Nguyen T, Nguyen N, Nodell M, Pan S, Peck J, Peterson M, Rowe W, Sanders R, Scott J, Simpson M, Smith T, Sprague A, Stockwell T, Turner R, Venter E, Wang M, Wen M, Wu D, Wu M, Xia A, Zandieh A, Zhu X.

    Science. 2001 Feb 16;291(5507):1304-51. Erratum in: Science 2001 Jun 5;292(5523):1838. PMID: 11181995 [PubMed - indexed for MEDLINE]Related articlesFree article

    18.

    Implications of the Human Genome Project for medical science.

    Collins FS, McKusick VA.

    JAMA. 2001 Feb 7;285(5):540-4.PMID: 11176855 [PubMed - indexed for MEDLINE]Related articlesFree article

    19.

    The "father" of modern genetic mapping. An interview with Victor McKusick, M..D.

    McKusick VA.

    Md Med. 2000 Autumn;1(4):12-4. No abstract available. PMID: 11147451 [PubMed - indexed for MEDLINE]Related articles

    20.

    Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis.

    Killoran CE, Abbott M, McKusick VA, Biesecker LG.

    Clin Genet. 2000 Jul;58(1):28-30.PMID: 10945658 [PubMed - indexed for MEDLINE]Related articles

    21.

    OMIM passes the 1,000-disease-gene mark.

    Antonarakis SE, McKusick VA.

    Nat Genet. 2000 May;25(1):11. No abstract available. PMID: 10802643 [PubMed - indexed for MEDLINE]Related articles

    22.

    Ellis-van Creveld syndrome and the Amish.

    McKusick VA.

    Nat Genet. 2000 Mar;24(3):203-4. No abstract available. PMID: 10700162 [PubMed - indexed for MEDLINE]Related articles

    23.

    Online Mendelian Inheritance in Man (OMIM).

    Hamosh A, Scott AF, Amberger J, Valle D, McKusick VA.

    Hum Mutat. 2000;15(1):57-61.PMID: 10612823 [PubMed - indexed for MEDLINE]Related articles

    24.

    A grade 6 systolic murmur.

    McKusick VA.

    N Engl J Med. 1999 Nov 4;341(19):1472-3. No abstract available. PMID: 10577100 [PubMed - indexed for MEDLINE]Related articles

    25.

    Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1.

    Smith FJ, McKusick VA, Nielsen K, Pfendner E, Uitto J, McLean WH.

    Prenat Diagn. 1999 Oct;19(10):941-6.PMID: 10521820 [PubMed - indexed for MEDLINE]Related articles

    26.

    40 years of the annual 'Bar Harbor Course' (1960-1999): a pictorial history.

    McKusick VA, Naggert J, Nishina P, Valle D.

    Clin Genet. 1999 Jun;55(6):398-415. No abstract available. PMID: 10450856 [PubMed - indexed for MEDLINE]Related articles

    27.

    Abner McGehee harvey 1911-1998

    McKusick VA.

    Proc Assoc Am Physicians. 1999 Jul;111(4):365-8. No abstract available. PMID: 10417745 [PubMed - as supplied by publisher]Related articles

    28.

    In memoriam. Abner McGhee Harvey. 1911-1998.

    McKusick VA.

    Proc Assoc Am Physicians. 1999 Jul-Aug;111(4):365-8. No abstract available. PMID: 10498434 [PubMed - indexed for MEDLINE]Related articles

    29.

    Small deletions in the type II collagen triple helix produce kniest dysplasia.

    Wilkin DJ, Artz AS, South S, Lachman RS, Rimoin DL, Wilcox WR, McKusick VA, Stratakis CA, Francomano CA, Cohn DH.

    Am J Med Genet. 1999 Jul 16;85(2):105-12.PMID: 10406661 [PubMed - indexed for MEDLINE]Related articles

    30.

    On the naming of clinical disorders, with particular reference to eponyms.

    McKusick VA.

    Medicine (Baltimore). 1998 Jan;77(1):1-2. No abstract available. PMID: 9465859 [PubMed - indexed for MEDLINE]Related articles

    31.

    Genomics: structural and functional studies of genomes.

    McKusick VA.

    Genomics. 1997 Oct 15;45(2):244-9. Review. No abstract available. PMID: 9463089 [PubMed - indexed for MEDLINE]Related articles

    32.

    Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus.

    Howard TD, Guttmacher AE, McKinnon W, Sharma M, McKusick VA, Jabs EW.

    Am J Hum Genet. 1997 Dec;61(6):1405-12.PMID: 9399901 [PubMed - indexed for MEDLINE]Related articlesFree article

    34.

    Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease.

    Arch EM, Goodman BK, Van Wesep RA, Liaw D, Clarke K, Parsons R, McKusick VA, Geraghty MT.

    Am J Med Genet. 1997 Sep 5;71(4):489-93.PMID: 9286463 [PubMed - indexed for MEDLINE]Related articles

    35.

    A European family with histidine 58 transthyretin mutation in familial amyloid polyneuropathy.

    Goebel HH, Seddigh S, Hopf HC, Uemichi T, Benson MD, McKusick VA.

    Neuromuscul Disord. 1997 Jun;7(4):229-30. No abstract available. PMID: 9196903 [PubMed - indexed for MEDLINE]Related articles

    36.

    Molecular genetics in clinical practice: the series begins.

    McKusick VA.

    Hosp Pract (Minneap). 1997 Jan 15;32(1):11-2. No abstract available. PMID: 9006578 [PubMed - indexed for MEDLINE]Related articles

    37.

    Progress in medical genetics: map-based gene discovery and the molecular pathology of skeletal dysplasias.

    McKusick VA, Amberger JS, Francomano CA.

    Am J Med Genet. 1996 May 3;63(1):98-105. No abstract available. PMID: 8723094 [PubMed - indexed for MEDLINE]Related articles

    38.

    Mutation nomenclature: nicknames, systematic names, and unique identifiers.

    Beutler E, McKusick VA, Motulsky AG, Scriver CR, Hutchinson F.

    Hum Mutat. 1996;8(3):203-6. No abstract available. PMID: 8889577 [PubMed - indexed for MEDLINE]Related articles

    39.

    The Marfan syndrome and the cardiovascular surgeon.

    Gott VL, Laschinger JC, Cameron DE, Dietz HC, Greene PS, Gillinov AM, Pyeritz RE, Alejo DE, Fleischer KJ, Anhalt GJ, Stone CD, McKusick VA.

    Eur J Cardiothorac Surg. 1996;10(3):149-58.PMID: 8664013 [PubMed - indexed for MEDLINE]Related articlesFree article

    40.

    Reviews in molecular medicine.

    McKusick VA.

    Medicine (Baltimore). 1995 Nov;74(6):301-4. No abstract available. PMID: 7500894 [PubMed - indexed for MEDLINE]Related articles

    41.

    Aortic root replacement. Risk factor analysis of a seventeen-year experience with 270 patients.

    Gott VL, Gillinov AM, Pyeritz RE, Cameron DE, Reitz BA, Greene PS, Stone CD, Ferris RL, Alejo DE, McKusick VA.

    J Thorac Cardiovasc Surg. 1995 Mar;109(3):536-44; discussion 544-5.PMID: 7877316 [PubMed - indexed for MEDLINE]Related articles

    42.

    Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.

    Rosenfeld PJ, McKusick VA, Amberger JS, Dryja TP.

    J Med Genet. 1994 Dec;31(12):903-15. Review. No abstract available. PMID: 7891370 [PubMed - indexed for MEDLINE]Related articlesFree article

    43.

    Composite graft repair of Marfan aneurysm of the ascending aorta: results in 150 patients.

    Gott VL, Cameron DE, Pyeritz RE, Gillinov AM, Greene PS, Stone CD, Alejo DE, McKusick VA.

    J Card Surg. 1994 Sep;9(5):482-9.PMID: 7994090 [PubMed - indexed for MEDLINE]Related articles

    44.

    Phenotypic diversity, allelic series and modifier genes.

    Romeo G, McKusick VA.

    Nat Genet. 1994 Aug;7(4):451-3. No abstract available. PMID: 7951309 [PubMed - indexed for MEDLINE]Related articles

    45.

    A gene map of congenital malformations.

    Wilkie AO, Amberger JS, McKusick VA.

    J Med Genet. 1994 Jul;31(7):507-17. Review.PMID: 7966186 [PubMed - indexed for MEDLINE]Related articlesFree article

    46.

    The morbid anatomy of the human genome: chromosomal location of mutations causing disease (update 1 December 1993).

    McKusick VA, Amberger JS.

    J Med Genet. 1994 Apr;31(4):265-79. Review. No abstract available. PMID: 8071951 [PubMed - indexed for MEDLINE]Related articlesFree article

    47.

    High-resolution genetic mapping of the cartilage-hair hypoplasia (CHH) gene in Amish and Finnish families.

    Sulisalo T, Francomano CA, Sistonen P, Maher JF, McKusick VA, de la Chapelle A, Kaitila I.

    Genomics. 1994 Apr;20(3):347-53.PMID: 8034306 [PubMed - indexed for MEDLINE]Related articles

    48.

    Classification of pseudoxanthoma elasticum: report of a consensus conference.

    Lebwohl M, Neldner K, Pope FM, De Paepe A, Christiano AM, Boyd CD, Uitto J, McKusick VA.

    J Am Acad Dermatol. 1994 Jan;30(1):103-7. Review. No abstract available. PMID: 8277008 [PubMed - indexed for MEDLINE]Related articles

    49.

    Alkaptonuria: tracked down to chromosome 3.

    McKusick VA.

    Genomics. 1994 Jan 1;19(1):3-4. No abstract available. PMID: 8188236 [PubMed - indexed for MEDLINE]Related articles

    50.

    Discussion on mutation nomenclature.

    Antonarakis SE, McKusick VA.

    Hum Mutat. 1994;4(2):166. No abstract available. PMID: 7981723 [PubMed - indexed for MEDLINE]Related articles

    Supplemental Content

    Find related data

    Search details

    » See more...