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Page 1
Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs.
Stuppia L, Antonucci I, Binni F, Brandi A, Grifone N, Colosimo A, De Santo M, Gatta V, Gelli G, Guida V, Majore S, Calabrese G, Palka C, Ravani A, Rinaldi R, Tiboni GM, Ballone E, Venturoli A, Ferlini A, Torrente I, Grammatico P, Calzolari E, Dallapiccola B. Stuppia L, et al. Among authors: grammatico p. Eur J Hum Genet. 2005 Aug;13(8):959-64. doi: 10.1038/sj.ejhg.5201437. Eur J Hum Genet. 2005. PMID: 15870824
Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS).
Castori M, Brancati F, Rinaldi R, Adami L, Mingarelli R, Grammatico P, Dallapiccola B. Castori M, et al. Among authors: grammatico p. Am J Med Genet A. 2006 Jul 15;140(14):1573-9. doi: 10.1002/ajmg.a.31290. Am J Med Genet A. 2006. PMID: 16761296 Review.
Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification.
Scarciolla O, Stuppia L, De Angelis MV, Murru S, Palka C, Giuliani R, Pace M, Di Muzio A, Torrente I, Morella A, Grammatico P, Giacanelli M, Rosatelli MC, Uncini A, Dallapiccola B. Scarciolla O, et al. Among authors: grammatico p. Neurogenetics. 2006 Nov;7(4):269-76. doi: 10.1007/s10048-006-0051-3. Epub 2006 Jul 22. Neurogenetics. 2006. PMID: 16865356
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P; International JSRD Study Group; Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM. Iannicelli M, et al. Among authors: grammatico p. Hum Mutat. 2010 May;31(5):E1319-31. doi: 10.1002/humu.21239. Hum Mutat. 2010. PMID: 20232449 Free PMC article.
Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011.
Novelli A, Grati FR, Ballarati L, Bernardini L, Bizzoco D, Camurri L, Casalone R, Cardarelli L, Cavalli P, Ciccone R, Clementi M, Dalprà L, Gentile M, Gelli G, Grammatico P, Malacarne M, Nardone AM, Pecile V, Simoni G, Zuffardi O, Giardino D. Novelli A, et al. Among authors: grammatico p. Ultrasound Obstet Gynecol. 2012 Apr;39(4):384-8. doi: 10.1002/uog.11092. Ultrasound Obstet Gynecol. 2012. PMID: 22262341 Free article. Review.
250 results