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Items: 38

1.

Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.

Mahajan A, Wessel J, Willems SM, Zhao W, Robertson NR, Chu AY, Gan W, Kitajima H, Taliun D, Rayner NW, Guo X, Lu Y, Li M, Jensen RA, Hu Y, Huo S, Lohman KK, Zhang W, Cook JP, Prins BP, Flannick J, Grarup N, Trubetskoy VV, Kravic J, Kim YJ, Rybin DV, Yaghootkar H, Müller-Nurasyid M, Meidtner K, Li-Gao R, Varga TV, Marten J, Li J, Smith AV, An P, Ligthart S, Gustafsson S, Malerba G, Demirkan A, Tajes JF, Steinthorsdottir V, Wuttke M, Lecoeur C, Preuss M, Bielak LF, Graff M, Highland HM, Justice AE, Liu DJ, Marouli E, Peloso GM, Warren HR; ExomeBP Consortium; MAGIC Consortium; GIANT Consortium, Afaq S, Afzal S, Ahlqvist E, Almgren P, Amin N, Bang LB, Bertoni AG, Bombieri C, Bork-Jensen J, Brandslund I, Brody JA, Burtt NP, Canouil M, Chen YI, Cho YS, Christensen C, Eastwood SV, Eckardt KU, Fischer K, Gambaro G, Giedraitis V, Grove ML, de Haan HG, Hackinger S, Hai Y, Han S, Tybjærg-Hansen A, Hivert MF, Isomaa B, Jäger S, Jørgensen ME, Jørgensen T, Käräjämäki A, Kim BJ, Kim SS, Koistinen HA, Kovacs P, Kriebel J, Kronenberg F, Läll K, Lange LA, Lee JJ, Lehne B, Li H, Lin KH, Linneberg A, Liu CT, Liu J, Loh M, Mägi R, Mamakou V, McKean-Cowdin R, Nadkarni G, Neville M, Nielsen SF, Ntalla I, Peyser PA, Rathmann W, Rice K, Rich SS, Rode L, Rolandsson O, Schönherr S, Selvin E, Small KS, Stančáková A, Surendran P, Taylor KD, Teslovich TM, Thorand B, Thorleifsson G, Tin A, Tönjes A, Varbo A, Witte DR, Wood AR, Yajnik P, Yao J, Yengo L, Young R, Amouyel P, Boeing H, Boerwinkle E, Bottinger EP, Chowdhury R, Collins FS, Dedoussis G, Dehghan A, Deloukas P, Ferrario MM, Ferrières J, Florez JC, Frossard P, Gudnason V, Harris TB, Heckbert SR, Howson JMM, Ingelsson M, Kathiresan S, Kee F, Kuusisto J, Langenberg C, Launer LJ, Lindgren CM, Männistö S, Meitinger T, Melander O, Mohlke KL, Moitry M, Morris AD, Murray AD, de Mutsert R, Orho-Melander M, Owen KR, Perola M, Peters A, Province MA, Rasheed A, Ridker PM, Rivadineira F, Rosendaal FR, Rosengren AH, Salomaa V, Sheu WH, Sladek R, Smith BH, Strauch K, Uitterlinden AG, Varma R, Willer CJ, Blüher M, Butterworth AS, Chambers JC, Chasman DI, Danesh J, van Duijn C, Dupuis J, Franco OH, Franks PW, Froguel P, Grallert H, Groop L, Han BG, Hansen T, Hattersley AT, Hayward C, Ingelsson E, Kardia SLR, Karpe F, Kooner JS, Köttgen A, Kuulasmaa K, Laakso M, Lin X, Lind L, Liu Y, Loos RJF, Marchini J, Metspalu A, Mook-Kanamori D, Nordestgaard BG, Palmer CNA, Pankow JS, Pedersen O, Psaty BM, Rauramaa R, Sattar N, Schulze MB, Soranzo N, Spector TD, Stefansson K, Stumvoll M, Thorsteinsdottir U, Tuomi T, Tuomilehto J, Wareham NJ, Wilson JG, Zeggini E, Scott RA, Barroso I, Frayling TM, Goodarzi MO, Meigs JB, Boehnke M, Saleheen D, Morris AP, Rotter JI, McCarthy MI.

Nat Genet. 2018 Apr;50(4):559-571. doi: 10.1038/s41588-018-0084-1. Epub 2018 Apr 9.

PMID:
29632382
2.

Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

Tachmazidou I, Süveges D, Min JL, Ritchie GRS, Steinberg J, Walter K, Iotchkova V, Schwartzentruber J, Huang J, Memari Y, McCarthy S, Crawford AA, Bombieri C, Cocca M, Farmaki AE, Gaunt TR, Jousilahti P, Kooijman MN, Lehne B, Malerba G, Männistö S, Matchan A, Medina-Gomez C, Metrustry SJ, Nag A, Ntalla I, Paternoster L, Rayner NW, Sala C, Scott WR, Shihab HA, Southam L, St Pourcain B, Traglia M, Trajanoska K, Zaza G, Zhang W, Artigas MS, Bansal N, Benn M, Chen Z, Danecek P, Lin WY, Locke A, Luan J, Manning AK, Mulas A, Sidore C, Tybjaerg-Hansen A, Varbo A, Zoledziewska M, Finan C, Hatzikotoulas K, Hendricks AE, Kemp JP, Moayyeri A, Panoutsopoulou K, Szpak M, Wilson SG, Boehnke M, Cucca F, Di Angelantonio E, Langenberg C, Lindgren C, McCarthy MI, Morris AP, Nordestgaard BG, Scott RA, Tobin MD, Wareham NJ; SpiroMeta Consortium; GoT2D Consortium, Burton P, Chambers JC, Smith GD, Dedoussis G, Felix JF, Franco OH, Gambaro G, Gasparini P, Hammond CJ, Hofman A, Jaddoe VWV, Kleber M, Kooner JS, Perola M, Relton C, Ring SM, Rivadeneira F, Salomaa V, Spector TD, Stegle O, Toniolo D, Uitterlinden AG; arcOGEN Consortium; Understanding Society Scientific Group; UK10K Consortium, Barroso I, Greenwood CMT, Perry JRB, Walker BR, Butterworth AS, Xue Y, Durbin R, Small KS, Soranzo N, Timpson NJ, Zeggini E.

Am J Hum Genet. 2017 Jun 1;100(6):865-884. doi: 10.1016/j.ajhg.2017.04.014. Epub 2017 May 25.

3.

An Interleukin 13 Polymorphism Is Associated with Symptom Severity in Adult Subjects with Ever Asthma.

Accordini S, Calciano L, Bombieri C, Malerba G, Belpinati F, Lo Presti AR, Baldan A, Ferrari M, Perbellini L, de Marco R.

PLoS One. 2016 Mar 17;11(3):e0151292. doi: 10.1371/journal.pone.0151292. eCollection 2016.

4.

IFRD1 gene polymorphisms are associated with nasal polyposis in cystic fibrosis patients.

Baldan A, Lo Presti AR, Belpinati F, Castellani C, Bettin MD, Xumerle L, Pignatti PR, Malerba G, Bombieri C.

Rhinology. 2015 Dec;53(4):359-64. doi: 10.4193/Rhin14.229.

PMID:
26397160
5.

Genotypes and phenotypes in cystic fibrosis and cystic fibrosis transmembrane regulator-related disorders.

Bombieri C, Seia M, Castellani C.

Semin Respir Crit Care Med. 2015 Apr;36(2):180-93. doi: 10.1055/s-0035-1547318. Epub 2015 Mar 31. Review.

PMID:
25826586
6.

Modulation of genetic associations with serum urate levels by body-mass-index in humans.

Huffman JE, Albrecht E, Teumer A, Mangino M, Kapur K, Johnson T, Kutalik Z, Pirastu N, Pistis G, Lopez LM, Haller T, Salo P, Goel A, Li M, Tanaka T, Dehghan A, Ruggiero D, Malerba G, Smith AV, Nolte IM, Portas L, Phipps-Green A, Boteva L, Navarro P, Johansson A, Hicks AA, Polasek O, Esko T, Peden JF, Harris SE, Murgia F, Wild SH, Tenesa A, Tin A, Mihailov E, Grotevendt A, Gislason GK, Coresh J, D'Adamo P, Ulivi S, Vollenweider P, Waeber G, Campbell S, Kolcic I, Fisher K, Viigimaa M, Metter JE, Masciullo C, Trabetti E, Bombieri C, Sorice R, Döring A, Reischl E, Strauch K, Hofman A, Uitterlinden AG, Waldenberger M, Wichmann HE, Davies G, Gow AJ, Dalbeth N, Stamp L, Smit JH, Kirin M, Nagaraja R, Nauck M, Schurmann C, Budde K, Farrington SM, Theodoratou E, Jula A, Salomaa V, Sala C, Hengstenberg C, Burnier M, Mägi R, Klopp N, Kloiber S, Schipf S, Ripatti S, Cabras S, Soranzo N, Homuth G, Nutile T, Munroe PB, Hastie N, Campbell H, Rudan I, Cabrera C, Haley C, Franco OH, Merriman TR, Gudnason V, Pirastu M, Penninx BW, Snieder H, Metspalu A, Ciullo M, Pramstaller PP, van Duijn CM, Ferrucci L, Gambaro G, Deary IJ, Dunlop MG, Wilson JF, Gasparini P, Gyllensten U, Spector TD, Wright AF, Hayward C, Watkins H, Perola M, Bochud M, Kao WH, Caulfield M, Toniolo D, Völzke H, Gieger C, Köttgen A, Vitart V.

PLoS One. 2015 Mar 26;10(3):e0119752. doi: 10.1371/journal.pone.0119752. eCollection 2015.

7.

Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility.

Wessel J, Chu AY, Willems SM, Wang S, Yaghootkar H, Brody JA, Dauriz M, Hivert MF, Raghavan S, Lipovich L, Hidalgo B, Fox K, Huffman JE, An P, Lu Y, Rasmussen-Torvik LJ, Grarup N, Ehm MG, Li L, Baldridge AS, Stančáková A, Abrol R, Besse C, Boland A, Bork-Jensen J, Fornage M, Freitag DF, Garcia ME, Guo X, Hara K, Isaacs A, Jakobsdottir J, Lange LA, Layton JC, Li M, Hua Zhao J, Meidtner K, Morrison AC, Nalls MA, Peters MJ, Sabater-Lleal M, Schurmann C, Silveira A, Smith AV, Southam L, Stoiber MH, Strawbridge RJ, Taylor KD, Varga TV, Allin KH, Amin N, Aponte JL, Aung T, Barbieri C, Bihlmeyer NA, Boehnke M, Bombieri C, Bowden DW, Burns SM, Chen Y, Chen YD, Cheng CY, Correa A, Czajkowski J, Dehghan A, Ehret GB, Eiriksdottir G, Escher SA, Farmaki AE, Frånberg M, Gambaro G, Giulianini F, Goddard WA 3rd, Goel A, Gottesman O, Grove ML, Gustafsson S, Hai Y, Hallmans G, Heo J, Hoffmann P, Ikram MK, Jensen RA, Jørgensen ME, Jørgensen T, Karaleftheri M, Khor CC, Kirkpatrick A, Kraja AT, Kuusisto J, Lange EM, Lee IT, Lee WJ, Leong A, Liao J, Liu C, Liu Y, Lindgren CM, Linneberg A, Malerba G, Mamakou V, Marouli E, Maruthur NM, Matchan A, McKean-Cowdin R, McLeod O, Metcalf GA, Mohlke KL, Muzny DM, Ntalla I, Palmer ND, Pasko D, Peter A, Rayner NW, Renström F, Rice K, Sala CF, Sennblad B, Serafetinidis I, Smith JA, Soranzo N, Speliotes EK, Stahl EA, Stirrups K, Tentolouris N, Thanopoulou A, Torres M, Traglia M, Tsafantakis E, Javad S, Yanek LR, Zengini E, Becker DM, Bis JC, Brown JB, Cupples LA, Hansen T, Ingelsson E, Karter AJ, Lorenzo C, Mathias RA, Norris JM, Peloso GM, Sheu WH, Toniolo D, Vaidya D, Varma R, Wagenknecht LE, Boeing H, Bottinger EP, Dedoussis G, Deloukas P, Ferrannini E, Franco OH, Franks PW, Gibbs RA, Gudnason V, Hamsten A, Harris TB, Hattersley AT, Hayward C, Hofman A, Jansson JH, Langenberg C, Launer LJ, Levy D, Oostra BA, O'Donnell CJ, O'Rahilly S, Padmanabhan S, Pankow JS, Polasek O, Province MA, Rich SS, Ridker PM, Rudan I, Schulze MB, Smith BH, Uitterlinden AG, Walker M, Watkins H, Wong TY, Zeggini E; EPIC-InterAct Consortium, Laakso M, Borecki IB, Chasman DI, Pedersen O, Psaty BM, Tai ES, van Duijn CM, Wareham NJ, Waterworth DM, Boerwinkle E, Kao WH, Florez JC, Loos RJ, Wilson JG, Frayling TM, Siscovick DS, Dupuis J, Rotter JI, Meigs JB, Scott RA, Goodarzi MO.

Nat Commun. 2015 Jan 29;6:5897. doi: 10.1038/ncomms6897.

8.

Mild asthma and chronic bronchitis seem to influence functional exercise capacity: a multi-case control study.

Marcon A, Girardi P, Ferrari M, Olivieri M, Accordini S, Bombieri C, Bortolami O, Braggion M, Cappa V, Cazzoletti L, Locatelli F, Nicolis M, Perbellini L, Sembeni S, Verlato G, Zanolin ME, de Marco R.

Int Arch Allergy Immunol. 2013;161(2):181-8. doi: 10.1159/000345137. Epub 2013 Jan 24.

PMID:
23363736
9.
10.

Recommendations for the classification of diseases as CFTR-related disorders.

Bombieri C, Claustres M, De Boeck K, Derichs N, Dodge J, Girodon E, Sermet I, Schwarz M, Tzetis M, Wilschanski M, Bareil C, Bilton D, Castellani C, Cuppens H, Cutting GR, Drevínek P, Farrell P, Elborn JS, Jarvi K, Kerem B, Kerem E, Knowles M, Macek M Jr, Munck A, Radojkovic D, Seia M, Sheppard DN, Southern KW, Stuhrmann M, Tullis E, Zielenski J, Pignatti PF, Ferec C.

J Cyst Fibros. 2011 Jun;10 Suppl 2:S86-102. doi: 10.1016/S1569-1993(11)60014-3.

11.

Anthropological features of the CFTR gene: Its variability in an African population.

Maria Ciminelli B, Bombieri C, Ciccacci C, Belpinati F, Pompei F, Maselli R, Simporé J, Pignatti PF, Modiano G.

Ann Hum Biol. 2011 Mar;38(2):203-9. doi: 10.3109/03014460.2010.507554. Epub 2010 Sep 3.

PMID:
20812883
12.

The Gene-Environment Interactions in Respiratory Diseases (GEIRD) Project.

de Marco R, Accordini S, Antonicelli L, Bellia V, Bettin MD, Bombieri C, Bonifazi F, Bugiani M, Carosso A, Casali L, Cazzoletti L, Cerveri I, Corsico AG, Ferrari M, Fois AG, Lo Cascio V, Marcon A, Marinoni A, Olivieri M, Perbellini L, Pignatti P, Pirina P, Poli A, Rolla G, Trabetti E, Verlato G, Villani S, Zanolin ME; GEIRD Study Group.

Int Arch Allergy Immunol. 2010;152(3):255-63. doi: 10.1159/000283034. Epub 2010 Feb 11.

PMID:
20150743
13.

The Italian scheme of External Quality Assessment for beta-thalassemia: genotyping and reporting results and testing strategies in a 5-year survey.

Tosto F, Salvatore M, Falbo V, Floridia G, Censi F, Bombieri C, Rosatelli MC, Taruscio D.

Genet Test Mol Biomarkers. 2009 Feb;13(1):31-6. doi: 10.1089/gtmb.2008.0072.

PMID:
19309271
14.

Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

Castellani C, Cuppens H, Macek M Jr, Cassiman JJ, Kerem E, Durie P, Tullis E, Assael BM, Bombieri C, Brown A, Casals T, Claustres M, Cutting GR, Dequeker E, Dodge J, Doull I, Farrell P, Ferec C, Girodon E, Johannesson M, Kerem B, Knowles M, Munck A, Pignatti PF, Radojkovic D, Rizzotti P, Schwarz M, Stuhrmann M, Tzetis M, Zielenski J, Elborn JS.

J Cyst Fibros. 2008 May;7(3):179-96. doi: 10.1016/j.jcf.2008.03.009. Review.

15.

Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: a multicentric Italian study.

Tomaiuolo R, Sangiuolo F, Bombieri C, Bonizzato A, Cardillo G, Raia V, D'Apice MR, Bettin MD, Pignatti PF, Castaldo G, Novelli G.

J Cyst Fibros. 2008 Sep;7(5):347-51. doi: 10.1016/j.jcf.2007.12.004. Epub 2008 Feb 14.

16.

The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis: 4 years of activity.

Salvatore M, Falbo V, Floridia G, Censi F, Tosto F, Bombieri C, Castaldo G, Pignatti PF, Rosatelli MC, Taruscio D.

Clin Chem Lab Med. 2007;45(2):254-60.

PMID:
17311518
17.

Expression of receptor for advanced glycation end products in sarcoid granulomas.

Campo I, Morbini P, Zorzetto M, Tinelli C, Brunetta E, Villa C, Bombieri C, Cuccia M, Agostini C, Bozzi V, Facoetti A, Ferrarotti I, Mazzola P, Scabini R, Semenzato G, Pignatti PF, Pozzi E, Luisetti M.

Am J Respir Crit Care Med. 2007 Mar 1;175(5):498-506. Epub 2006 Dec 14.

PMID:
17170388
18.

Highly preferential association of NonF508del CF mutations with the M470 allele.

Ciminelli BM, Bonizzato A, Bombieri C, Pompei F, Gabaldo M, Ciccacci C, Begnini A, Holubova A, Zorzi P, Piskackova T, Macek M Jr, Castellani C, Modiano G, Pignatti PF.

J Cyst Fibros. 2007 Jan;6(1):15-22. Epub 2006 Jun 19.

19.

Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations.

Pompei F, Ciminelli BM, Bombieri C, Ciccacci C, Koudova M, Giorgi S, Belpinati F, Begnini A, Cerny M, Des Georges M, Claustres M, Ferec C, Macek M Jr, Modiano G, Pignatti PF.

Eur J Hum Genet. 2006 Jan;14(1):85-93.

20.

Frequency of large CFTR gene rearrangements in Italian CF patients.

Bombieri C, Bonizzato A, Castellani C, Assael BM, Pignatti PF.

Eur J Hum Genet. 2005 May;13(5):687-9.

21.

A large-scale study of the random variability of a coding sequence: a study on the CFTR gene.

Modiano G, Bombieri C, Ciminelli BM, Belpinati F, Giorgi S, Georges Md, Scotet V, Pompei F, Ciccacci C, Guittard C, Audrézet MP, Begnini A, Toepfer M, Macek M, Ferec C, Claustres M, Pignatti PF.

Eur J Hum Genet. 2005 Feb;13(2):184-92.

22.

Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.

Groman JD, Hefferon TW, Casals T, Bassas L, Estivill X, Des Georges M, Guittard C, Koudova M, Fallin MD, Nemeth K, Fekete G, Kadasi L, Friedman K, Schwarz M, Bombieri C, Pignatti PF, Kanavakis E, Tzetis M, Schwartz M, Novelli G, D'Apice MR, Sobczynska-Tomaszewska A, Bal J, Stuhrmann M, Macek M Jr, Claustres M, Cutting GR.

Am J Hum Genet. 2004 Jan;74(1):176-9. Epub 2003 Dec 18.

23.

Comment on 'CFTR gene mutations in sarcoidosis'.

Bombieri C, Belpinati F, Pignatti PF, Luisetti M.

Eur J Hum Genet. 2003 Aug;11(8):553-4. No abstract available.

24.

Complement receptor 1 gene polymorphisms in sarcoidosis.

Zorzetto M, Bombieri C, Ferrarotti I, Medaglia S, Agostini C, Tinelli C, Malerba G, Carrabino N, Beretta A, Casali L, Pozzi E, Pignatti PF, Semenzato G, Cuccia MC, Luisetti M.

Am J Respir Cell Mol Biol. 2002 Jul;27(1):17-23.

PMID:
12091241
25.

Cystic fibrosis mutation testing in Italy.

Bombieri C, Pignatti PF.

Genet Test. 2001 Fall;5(3):229-33.

PMID:
11788089
26.

Increased frequency of CFTR gene mutations in sarcoidosis: a case/control association study.

Bombieri C, Luisetti M, Belpinati F, Zuliani E, Beretta A, Baccheschi J, Casali L, Pignatti PF.

Eur J Hum Genet. 2000 Sep;8(9):717-20.

27.

High frequency of cystic fibrosis transmembrane regulator mutation L997F in patients with recurrent idiopathic pancreatitis and in newborns with hypertrypsinemia.

Gomez Lira M, Benetazzo MG, Marzari MG, Bombieri C, Belpinati F, Castellani C, Cavallini GC, Mastella G, Pignatti PF.

Am J Hum Genet. 2000 Jun;66(6):2013-4. No abstract available.

28.

A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals.

Bombieri C, Giorgi S, Carles S, de Cid R, Belpinati F, Tandoi C, Pallares-Ruiz N, Lazaro C, Ciminelli BM, Romey MC, Casals T, Pompei F, Gandini G, Claustres M, Estivill X, Pignatti PF, Modiano G.

Hum Genet. 2000 Feb;106(2):172-8.

PMID:
10746558
29.

alpha 1-antitrypsin TAQ I polymorphism and alpha 1-antichymotrypsin mutations in patients with obstructive pulmonary disease.

Benetazzo MG, Gilè LS, Bombieri C, Malerba G, Massobrio M, Pignatti PF, Luisetti M.

Respir Med. 1999 Sep;93(9):648-54.

30.

Genetics of chronic obstructive pulmonary disease and disseminated bronchiectasis.

Luisetti M, Gilé LS, Bombieri C, Benetazzo MG, Pignatti PF.

Monaldi Arch Chest Dis. 1998 Dec;53(6):614-6. Review. No abstract available.

PMID:
10063331
31.

Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease.

Bombieri C, Benetazzo M, Saccomani A, Belpinati F, Gilè LS, Luisetti M, Pignatti PF.

Hum Genet. 1998 Dec;103(6):718-22.

PMID:
9921909
32.

The haemochromatosis mutations do not modify the clinical picture of thalassaemia major in patients regularly transfused and chelated.

Borgna-Pignatti C, Solinas A, Bombieri C, Micciolo R, Gamberini MR, De Stefano P, De Menis E, Pignatti PF.

Br J Haematol. 1998 Dec;103(3):813-6.

PMID:
9858237
33.

A quarter of men with idiopathic oligo-azoospermia display chromosomal abnormalities and microdeletions of different types in interval 6 of Yq11.

Stuppia L, Gatta V, Calabrese G, Guanciali Franchi P, Morizio E, Bombieri C, Mingarelli R, Sforza V, Frajese G, Tenaglia R, Palka G.

Hum Genet. 1998 May;102(5):566-70.

PMID:
9654206
34.

CFTR gene variant IVS8-5T in disseminated bronchiectasis.

Pignatti PF, Bombieri C, Benetazzo M, Casartelli A, Trabetti E, Gilè LS, Martinati LC, Boner AL, Luisetti M.

Am J Hum Genet. 1996 Apr;58(4):889-892. No abstract available.

35.

Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis.

Pignatti PF, Bombieri C, Marigo C, Benetazzo M, Luisetti M.

Hum Mol Genet. 1995 Apr;4(4):635-9.

PMID:
7543317
36.

Homozygosity for a novel splice site mutation (2790-2 A--->G) preceding exon 15 of the CFTR gene in a cystic fibrosis patient of North-East Italian descent.

Marigo C, Bombieri C, Bisceglia L, Zelante L, Gasparini P, Pignatti PF.

Mol Cell Probes. 1995 Apr;9(2):139-41.

PMID:
7541511
37.

Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from north-eastern Italy: identification of 90% of the mutations.

Bonizzato A, Bisceglia L, Marigo C, Nicolis E, Bombieri C, Castellani C, Borgo G, Zelante L, Mastella G, Cabrini G, et al.

Hum Genet. 1995 Apr;95(4):397-402.

PMID:
7535742
38.

Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypes.

Gasparini P, Marigo C, Bisceglia G, Nicolis E, Zelante L, Bombieri C, Borgo G, Pignatti PF, Cabrini G.

Hum Mutat. 1993;2(5):389-94.

PMID:
7504969

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