Alpha-1 Antitrypsin
(AAT) Deficiency  Routine genetic testing for alpha-1 antitrypsin deficiency Pronto Diagnostics Ltd. CLI September 2004 A new genetic screening assay for alpha-1 antitrypsin deficiency Aline Yakir, Dana Cohen, Alal Eran, Vardit Adir and Chaya Furman The 36th European Human Genetics Conference, Germany 2004 Alpha-1 antitrypsin deficiency is not a rare disease but a disease that is rarely diagnosed de Serres FJ. Environ Health Perspect. 2003 Dec;111(16):1851-4 Worldwide racial and ethnic distribution of alpha-1 antitrypsin deficiency: summary of an analysis of published genetic epidemiologic surveys de Serres FJ. Chest. 2002 Nov;122(5):1818-29 Genetic risk factors of chronic obstructive pulmonary disease dJoos L, Pare PD, Sandford AJ Swiss Med Wkly. 2002 Jan 26;132(3-4):27-37 APC - Colorectal Cancer Prevalence of the I1307K APC gene variant in Israeli Jews of differing ethnic origin and risk for colorectal cancer Rozen P, Shomrat R, Strul H, Naiman T, Karminsky N, Legum C, Orr-Urtreger A. Gastroenterology. 1999 Jan;116(1):54-7 PRONTO® APC kits were used in this research. For more information please contact literature@prontodiagnostics.com The I1307K polymorphism of the APC gene in colorectal cancer Prior TW, Chadwick RB, Papp AC, Arcot AN, Isa AM, Pearl DK, Stemmermann G, Percesepe A, Loukola A, Aaltonen LA, De La Chapelle A. Gastroenterology. 1999 Jan;116(1):58-63 Role of APC and DNA mismatch repair genes in the development of colorectal cancers Narayan S, Roy D. Mol Cancer. 2003 Dec 12;2(1):41 Hereditary colorectal cancer Lynch HT, de la Chapelle A N Engl J Med. 2003 Mar 6;348(10):919-32 ApoE A comparison of two methods for routine, accurate determination of apolipoprotein E genotypes McLeod DA, Arnott B, Gaudreault N, Boudreau S, Sevigny P. Alzheimer's Reports 1998 1 (4): 211-215 PRONTO® ApoE kits were used in this research. For more information please contact literature@prontodiagnostics.com Utility of the apolipoprotein E genotype in the diagnosis of Alzheimer's disease Mayeux R, Saunders AM, Shea S, Mirra S, Evans D, Roses AD, Hyman BT, Crain B, Tang MX, Phelps CH. N Engl J Med. 1998 Feb 19;338(8):506-11 Bloom Syndrome Bloom syndrome and Fanconi's anemia: rate and ethnic origin of mutation carriers in Israel Peleg L, Pesso R, Goldman B, Dotan K, Omer M, Friedman E, Berkenstadt M, Reznik-Wolf H, Barkai G. Isr Med Assoc J. 2002 Feb;4(2):95-7 PRONTO® Bloom / Fanconi kits were used in this research. For more information please contact literature@prontodiagnostics.com PRONTO® Ethnix™ - a population based approach for genetic testing Navot N., Furman Y., Cohen D., Yakir A., Tchelet A., Vered N. Lederkremer M The 34th European Society of Human Genetics Conference, Strasburg, France, 2002 The Bloom's syndrome gene product is a 3'-5' DNA helicase Karow JK, Chakraverty RK, Hickson ID J Biol Chem. 1997 Dec 5;272(49):30611-4 BRCA1 / BRCA2 Role of BRCA gene dysfunction in breast and ovarian cancer predisposition Scully R. Breast Cancer Res. 2000;2(5):324-30. Epub 2000 Jul 13 Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2 King MC, Marks JH, Mandell JB; New York Breast Cancer Study Group Science. 2003 Oct 24;302(5645):643-6 BRCA1 gene in breast cancer Rosen EM, Fan S, Pestell RG, Goldberg ID. J Cell Physiol. 2003 Jul;196(1):19-41 BRCA2 mutation carriers, reproductive factors and breast cancer risk Tryggvadottir L, Olafsdottir EJ, Gudlaugsdottir S, Thorlacius S, Jonasson JG, Tulinius H, Eyfjord JE. Breast Cancer Res. 2003;5(5):R121-8. Epub 2003 Jun 24 Germ-line BRCA1 mutations in Jewish and non-Jewish women with early-onset breast cancer FitzGerald MG, MacDonald DJ, Krainer M, Hoover I, O'Neil E, Unsal H, Silva-Arrieto S, Finkelstein DM, Beer-Romero P, Englert C, Sgroi DC, Smith BL, Younger JW, Garber JE, Duda RB, Mayzel KA, Isselbacher KJ, Friend SH, Haber DA. N Engl J Med. 1996 Jan 18;334(3):143-9 Canavan A benign polymorphism in the aspartoacylase gene may cause misinterpretation of Canavan gene testing Propheta O, Magal N, Shohat M, Eyal N, Navot N, Horowitz M. Eur J Hum Genet. 1998 Nov-Dec;6(6):635-7. PRONTO® Canavan kits were used in this research. For more information please contact literature@prontodiagnostics.com PRONTO® Ethnix™ - a population based approach for genetic testing Navot N., Furman Y., Cohen D., Yakir A., Tchelet A., Vered N. Lederkremer M The 34th European Society of Human Genetics Conference, Strasburg, France, 2002 Cystic Fibrosis (CF) SNP-based screening assays for genetic diseases Furman Y., Cohen D. CLI May 2003 PRONTO® Ethnix™ - a population based approach for genetic testing Navot N., Furman Y., Cohen D., Yakir A., Tchelet A., Vered N. Lederkremer M The 34th European Society of Human Genetics Conference, Strasburg, France, 2002 Cystic fibrosis: a worldwide analysis of CFTR mutations. correlation with incidence data and application to screening Joseph L. Bobadilla, Milan Macek Jr., Jason P. Fine, and Philip M. Farrell Hum Mutat. 2002 Jun;19(6):575-606 'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations Noone PG, Knowles MR Respir Res. 2001; 2(6): 328-332. Familial Dysautonomia (FD) Comparison of two methods for routine accurate determination of the two mutations in the IKBKAP gene causing Familial Dysautonomia A. Blumenfeld, M. Idelson, L. Reznik, I. Bejarano-Achache, A. Yakir, Y. Furman, A. Bessudo, D. Cohen, N. Navot American Society of Human Genetics 52nd Annual Meeting, Baltimore, Maryland, USA, October 2002 PRONTO® Ethnix™ - a population based approach for genetic testing Navot N., Furman Y., Cohen D., Yakir A., Tchelet A., Vered N. Lederkremer M The 34th European Society of Human Genetics Conference, Strasburg, France, 2002 Familial Mediterranean Fever (FMF) MEFV mutation analysis in patients suffering from amyloidosis of familial Mediterranean fever Livneh A, Langevitz P, Shinar Y, Zaks N, Kastner DL, Pras M, Pras E. Amyloid. 1999 Mar;6(1):1-6 PRONTO® FMF kits were used in this research. For more information please contact literature@prontodiagnostics.com Crohn disease in patients with familial Mediterranean fever Fidder HH, Chowers Y, Lidar M, Sternberg M, Langevitz P, Livneh A Medicine (Baltimore). 2002 Nov;81(6):411-6 PRONTO® FMF kits were used in this research. For more information please contact literature@prontodiagnostics.com Familial Mediterranean fever: The Genetics of Inflammation Kastner DL Hosp Pract (Off Ed). 1998 Apr 15;33(4):131-4, 139-40, 143-6 passim Familial Mediterranean fever: clinical and genetic characterization in a mixed pediatric population of Jewish and Arab patients Brik R, Shinawi M, Kepten I, Berant M, Gershoni-Baruch R. Pediatrics. 1999 May;103(5):e70 Fanconi Anemia Bloom syndrome and Fanconi's anemia: rate and ethnic origin of mutation carriers in Israel Peleg L, Pesso R, Goldman B, Dotan K, Omer M, Friedman E, Berkenstadt M, Reznik-Wolf H, Barkai G. Isr Med Assoc J. 2002 Feb;4(2):95-7 PRONTO® Bloom / Fanconi kits were used in this research. For more information please contact literature@prontodiagnostics.com PRONTO® Ethnix™ - a population based approach for genetic testing Navot N., Furman Y., Cohen D., Yakir A., Tchelet A., Vered N. Lederkremer M The 34th European Society of Human Genetics Conference, Strasburg, France, 2002 Sequence variation in the Fanconi anemia gene FAA Levran O, Erlich T, Magdalena N, Gregory JJ, Batish SD, Verlander PC, Auerbach AD Proc Natl Acad Sci U S A. 1997 Nov 25;94(24):13051-6 Gaucher Disease Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population Horowitz M, Pasmanik-Chor M, Borochowitz Z, Falik-Zaccai T, Heldmann K, Carmi R, Parvari R, Beit-Or H, Goldman B, Peleg L, Levy-Lahad E, Renbaum P, Legum S, Shomrat R, Yeger H, Benbenisti D, Navon R, Dror V, Shohat M, Magal N, Navot N, Eyal N Hum Mutat. 1998;12(4):240-4 PRONTO® Gaucher kits were used in this research. For more information please contact literature@prontodiagnostics.com PRONTO® Ethnix™ - a population based approach for genetic testing Navot N., Furman Y., Cohen D., Yakir A., Tchelet A., Vered N. Lederkremer M The 34th European Society of Human Genetics Conference, Strasburg, France, 2002 Gaucher disease as a paradigm of current issues regarding single gene mutations of humans Beutler E. Proc Natl Acad Sci U S A. 1993 Jun 15;90(12):5384-90 Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state Beutler E, Gelbart T, Kuhl W, Sorge J, West C. Proc Natl Acad Sci U S A. 1991 Dec 1;88(23):10544-7 Glycogen Storage Disease Type 1a (GSD1a) PRONTO® Ethnix™ - a population based approach for genetic testing Navot N., Furman Y., Cohen D., Yakir A., Tchelet A., Vered N. Lederkremer M The 34th European Society of Human Genetics Conference, Strasburg, France, 2002 Molecular Genetics of Type 1 Glycogen Storage Diseases Yang Chou J, Mansfield BC Trends Endocrinol Metab. 1999 Apr;10(3):104-113 Hereditary Deafness (Connexin 26 / Connexin 30)
A novel genetic screening test for hereditary hearing loss Ruth Gershoni-Baruch, Maytal Mandelman, Nir Navot, Dana Cohen and Alal Eran The 54th Annual Meeting of the American Society of Human Genetics, Canada 2004 GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review Kenneson A, Van Naarden Braun K, Boyle C Genet Med. 2002 Jul-Aug;4(4):258-74 A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews Lerer I, Sagi M, Ben-Neriah Z, Wang T, Levi H, Abeliovich D. Hum Mutat. 2001 Nov;18(5):460 Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness Morell RJ, Kim HJ, Hood LJ, Goforth L, Friderici K, Fisher R, Van Camp G, Berlin CI, Oddoux C, Ostrer H, Keats B, Friedman TB. N Engl J Med. 1998 Nov 19;339(21):1500-5 The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population Sobe T, Vreugde S, Shahin H, Berlin M, Davis N, Kanaan M, Yaron Y, Orr-Urtreger A, Frydman M, Shohat M, Avraham KB. Hum Genet. 2000 Jan;106(1):50-7 Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study Del Castillo I, Moreno-Pelayo MA, Del Castillo FJ, Brownstein Z, Marlin S, Adina Q, Cockburn DJ, Pandya A, Siemering KR, Chamberlin GP, Ballana E, Wuyts W, Maciel-Guerra AT, Alvarez A, Villamar M, Shohat M, Abeliovich D, Dahl HH, Estivill X, Gasparini P, Hutchin T, Nance WE, Sartorato EL, Smith RJ, Van Camp G, Avraham KB, Petit C, Moreno F Am J Hum Genet. 2003 Dec;73(6):1452-8. Epub 2003 Oct 21 A deletion involving the connexin 30 gene in nonsyndromic hearing impairment del Castillo I, Villamar M, Moreno-Pelayo MA, del Castillo FJ, Alvarez A, Telleria D, Menendez I, Moreno F. N Engl J Med. 2002 Jan 24;346(4):243-9 Occurrence of del(GIB6-D13S1830) mutation in italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele F. Gualandi, A. Ravani, A. Berto, S. Burdo , P. Trevisi, A. Ferlini, A. Martini, E. Calzolari Acta Otolaryngol Suppl. 2004 May;(552):29-34. A genotype-phenotype correlation for GJB2 (connexin 26) deafness K Cryns, E Orzan, A Murgia, P L M Huygen, F Moreno, I del Castillo, G Parker Chamberlin, H Azaiez, S Prasad, R A Cucci, E Leonardi, R L Snoeckx, P J Govaerts, P H Van de Heyning, C M Van de Heyning, R J H Smith, G Van Camp J. Med. Genet., Mar 2004; 41: 147-154 A First report of prenatal diagnosis of genetic congenital deafness in a routine prenatal genetic test Santoro ML, Mobili L, Mesoraca A, Giorlandino C JPrenat Diagn. 2003 Dec 30;23(13):1083-5. Connexin 26 preverbal hearing impairment: mutation prevalence and heterozygosity in a selected population Orzan E, Murgia A, Polli R, Martella M, Mazza A, Zacchello F, Babighian G. Int J Audiol. 2002 Mar;41(2):120-4 Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene Rabionet R, Zelante L, Lopez-Bigas N, D'Agruma L, Melchionda S, Restagno G, Arbones ML, Gasparini P, Estivill X Hum Genet. 2000 Jan;106(1):40-4 Allele specific oligonucleotide analysis of the common deafness mutation 35delG in the connexin 26 (GJB2) gene Rabionet R, Estivill X J Med Genet. 1999 Mar;36(3):260-1 Connexin-26 mutations in sporadic and inherited sensorineural deafness Estivill X, Fortina P, Surrey S, Rabionet R, Melchionda S, D'Agruma L, Mansfield E, Rappaport E, Govea N, Mila M, Zelante L, Gasparini P Lancet. 1998 Feb 7;351(9100):394-8 Hereditary Hemochromatosis A Novel Primer Extension Assay for Hemochromatosis Genotyping D. Cohen, Y. Furman, M. Lederkremer, P. Renbaum, H. Steiner, E. Levy-Lahad, H. Hirshko, N. Navot European Iron Club Meeting, Porto, Portugal September 2002 A population-based study of the clinical expression of the hemochromatosis gene Olynyk JK, Cullen DJ, Aquilia S, Rossi E, Summerville L, Powell LW. N Engl J Med. 1999 Sep 2;341(10):718-24 Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States Steinberg KK, Cogswell ME, Chang JC, Caudill SP, McQuillan GM, Bowman BA, Grummer-Strawn LM, Sampson EJ, Khoury MJ, Gallagher ML. JAMA. 2001 May 2;285(17):2216-22 Hemochromatosis and Iron-Overload Screening in a Racially Diverse Population Adams PC, Reboussin DM, Barton JC, McLaren CE, Eckfeldt JH, McLaren GD, Dawkins FW, Acton RT, Harris EL, Gordeuk VR, Leiendecker-Foster C, Speechley M, Snively BM, Holup JL, Thomson E, Sholinsky P N Engl J Med. 2005 Apr 28;352(17):1769-78 Mucolipidosis IV (ML4) Determination of two mutations in the MCOLN1 gene causing mucolipidosis type IV, using a primer extension ELISA assay M. Mandelman, E. Gak, Y. Weigl, L. Peleg, A. Tchelet, Y. Furman, D. Cohen, N. Navot Israeli Society of Human Genetics Annual Meeting, Tel-Aviv, Israel, January 2003 PRONTO® Ethnix™ - a population based approach for genetic testing Navot N., Furman Y., Cohen D., Yakir A., Tchelet A., Vered N. Lederkremer M The 34th European Society of Human Genetics Conference, Strasburg, France, 2002 Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel Sun M, Goldin E, Stahl S, Falardeau JL, Kennedy JC, Acierno JS Jr, Bove C, Kaneski CR, Nagle J, Bromley MC, Colman M, Schiffmann R, Slaugenhaupt SA. Hum Mol Genet. 2000 Oct 12;9(17):2471-8 Mucolipidosis IV: novel mutation and diverse ultrastructural spectrum in the skin Bargal R, Goebel HH, Latta E, Bach G. Neuropediatrics. 2002 Aug;33(4):199-202 The molecular basis of mucolipidosis type IV Slaugenhaupt SA. Curr Mol Med. 2002 Aug;2(5):445-50 Niemann-Pick PRONTO® Ethnix™ - a population based approach for genetic testing Navot N., Furman Y., Cohen D., Yakir A., Tchelet A., Vered N. Lederkremer M The 34th European Society of Human Genetics Conference, Strasburg, France, 2002 Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients Levran O, Desnick RJ, Schuchman EH. Proc Natl Acad Sci U S A. 1991 May 1;88(9):3748-52 Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients Levran O, Desnick RJ, Schuchman EH J Clin Invest. 1991 Sep;88(3):806-10 Tay-Sachs PRONTO® Ethnix™ - a population based approach for genetic testing Navot N., Furman Y., Cohen D., Yakir A., Tchelet A., Vered N. Lederkremer M The 34th European Society of Human Genetics Conference, Strasburg, France, 2002 Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase Paw BH, Kaback MM, Neufeld EF. Proc Natl Acad Sci U S A. 1989 Apr;86(7):2413-7 The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase Myerowitz R, Costigan FC J Biol Chem. 1988 Dec 15;263(35):18587-9 Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group Myerowitz R. Proc Natl Acad Sci U S A. 1988 Jun;85(11):3955-9 STay-Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure Bach G, Tomczak J, Risch N, Ekstein J Am J Med Genet. 2001 Feb 15;99(1):70-5 Thrombosis Risk Factors PRONTO® ThromboRisk™ - a novel primer-extension ELISA based assay for the detection of mutations associated with increased risk for thrombophilia Carmi N, Cohen D, Zvang E, Naparstek E, Deutsch V. J Clin Lab Anal. 2004;18(5):259-64 For more information please contact literature@prontodiagnostics.com A novel ELISA-based primer extension assay for the detection of the factor V Leiden mutation Wilde JT, O'Sullivan JJ, Roper JL, Aerts P, Horowitz M, Navot N. Br J Haematol. 1999 Aug;106(2):427-30 PRONTO® Factor V kits were used in this research. For more information please contact literature@prontodiagnostics.com Inherited thrombophilia and pregnancy: Complications, diagnosis, and treatment Cohen D. ACL April 2002 Genetic susceptibility to venous thrombosis Seligsohn U, Lubetsky A. N Engl J Med. 2001 Apr 19;344(16):1222-31 Prothrombin and factor V mutations in women with a history of thrombosis during pregnancy and the puerperium Gerhardt A, Scharf RE, Beckmann MW, Struve S, Bender HG, Pillny M, Sandmann W, Zotz RB. N Engl J Med. 2000 Feb 10;342(6):374-80 Protein C deficiency in a controlled series of unselected outpatients: an infrequent but clear risk factor for venous thrombosis (Leiden Thrombophilia Study) Koster T, Rosendaal FR, Briet E, van der Meer FJ, Colly LP, Trienekens PH, Poort SR, Reitsma PH, Vandenbroucke JP. Blood. 1995 May 15;85(10):2756-61 A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. Blood. 1996 Nov 15;88(10):3698-703 Clinical and laboratory management of the prothrombin G20210A mutation McGlennen RC, Key NS. Arch Pathol Lab Med. 2002 Nov;126(11):1319-25 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review Botto LD, Yang Q. Am J Epidemiol. 2000 May 1;151(9):862-77 Plasma homocysteine as a risk factor for dementia and Alzheimer's disease Seshadri S, Beiser A, Selhub J, Jacques PF, Rosenberg IH, D'Agostino RB, Wilson PW, Wolf PA. N Engl J Med. 2002 Feb 14;346(7):476-83 Usher Syndrome A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome Ben-Yosef T, Ness SL, Madeo AC, Bar-Lev A, Wolfman JH, Ahmed ZM, Desnick RJ, Willner JP, Avraham KB, Ostrer H, Oddoux C, Griffith AJ, Friedman TB. N Engl J Med. 2003 Apr 24;348(17):1664-70 Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F Alagramam KN, Yuan H, Kuehn MH, Murcia CL, Wayne S, Srisailpathy CR, Lowry RB, Knaus R, Van Laer L, Bernier FP, Schwartz S, Lee C, Morton CC, Mullins RF, Ramesh A, Van Camp G, Hageman GS, Woychik RP, Smith RJ, Hagemen GS. Hum Mol Genet. 2001 Aug 1;10(16):1709-18 Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F Ahmed ZM, Riazuddin S, Bernstein SL, Ahmed Z, Khan S, Griffith AJ, Morell RJ, Friedman TB, Riazuddin S, Wilcox ER. Am J Hum Genet. 2001 Jul;69(1):25-34. Epub 2001 Jun 07 |
