RETROSPECTIVE AND PROSPECTIVE EPIDEMIOLOGICAL STUDIES OF 1,500 KARYOTYPED SPONTANEOUS HUMAN ABORTIONSJACOBS, Patricia A.Birth defects research. Clinical and molecular teratology. 2013, Vol 97, Num 7, pp 487-488, issn 1542-0752, 2 p.Article

Reliability growth by failure mode removalGAVER, Donald P; JACOBS, Patricia A.Reliability engineering & systems safety. 2014, Vol 130, pp 27-32, issn 0951-8320, 6 p.Article

De novo deletions and duplications detected by array CGH: a study of parental origin in relation to mechanisms of formation and size of imbalanceSIBBONS, Charlene; MORRIS, Joan K; CROLLA, John A et al.European journal of human genetics. 2012, Vol 20, Num 2, pp 155-160, issn 1018-4813, 6 p.Article

Common genetic variants are significant risk factors for early menopause: results from the Breakthrough Generations StudyMURRAY, Anna; BENNETT, Claire E; ASHWORTH, Alan et al.Human molecular genetics (Print). 2011, Vol 20, Num 1, pp 186-192, issn 0964-6906, 7 p.Article

Functional disomy resulting from duplications of distal Xq in four unrelated patientsLACHLAN, Katherine L; COLLINSON, Morag N; SANDFORD, Richard O. C et al.Human genetics. 2004, Vol 115, Num 5, pp 399-408, issn 0340-6717, 10 p.Article

Autism, language and communication in children with sex chromosome trisomiesBISHOP, Dorothy V. M; JACOBS, Patricia A; SHEARS, Deborah et al.Archives of disease in childhood. 2011, Vol 96, Num 10, pp 954-959, issn 0003-9888, 6 p.Article

X inactivation in triploidy and trisomy : the search for autosomal transfactors that choose the active XMIGEON, Barbara R; PAPPAS, Kara; STETTEN, Gail et al.European journal of human genetics. 2008, Vol 16, Num 2, pp 153-162, issn 1018-4813, 10 p.Article

Mortality and cancer incidence in males with Y polysomy in Britain : a cohort studyHIGGINS, Craig D; SWERDLOW, Anthony J; SCHOEMAKER, Minouk J et al.Human genetics. 2007, Vol 121, Num 6, pp 691-696, issn 0340-6717, 6 p.Article

Reliability Growth Management Metrics and Statistical Methods for Discrete-Use SystemsHALL, J. Brian; ELLNER, Paul M; MOSLEH, Ali et al.Technometrics. 2010, Vol 52, Num 4, pp 379-389, issn 0040-1706, 11 p.Article

Distribution of the D15Z1 copy number polymorphismCOCKWELL, Annette E; JACOBS, Patricia A; CROLLA, John A et al.European journal of human genetics. 2007, Vol 15, Num 4, pp 441-445, issn 1018-4813, 5 p.Article

Mortality and cancer incidence in women with extra X chromosomes : a cohort study in BritainSWERDLOW, Anthony J; SCHOEMAKER, Minouk J; HIGGINS, Craig D et al.Human genetics. 2005, Vol 118, Num 2, pp 255-260, issn 0340-6717, 6 p.Article

Characterization of breakpoints in the GABRG3 and TSPY genes in a family with a t(Y;15)(p11.2;q12)GOLE, Leena; CROLLA, John A; THOMAS, Simon N et al.American journal of medical genetics. 2004, Vol 125A, Num 2, pp 177-180, issn 0148-7299, 4 p.Article

Mortality in Women with Turner Syndrome in Great Britain : A National Cohort StudySCHOEMAKER, Minouk J; SWERDLOW, Anthony J; HIGGINS, Craig D et al.The Journal of clinical endocrinology and metabolism. 2008, Vol 93, Num 12, pp 4735-4742, issn 0021-972X, 8 p.Article

The origin of trisomy 13HALL, Heather E; CHAN, E. Ricky; COLLINS, Andrew et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 19, pp 2242-2248, issn 1552-4825, 7 p.Article

Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11THOMAS, N. Simon; DURKIE, Miranda; POTTS, Gemma et al.European journal of human genetics. 2006, Vol 14, Num 7, pp 831-837, issn 1018-4813, 7 p.Article

A study of cryptic terminal chromosome rearrangements in recurrent miscarriage couples detects unsuspected acrocentric pericentromeric abnormalitiesCOCKWELL, Annette E; JACOBS, Patricia A; BEAL, Sarah J et al.Human genetics. 2003, Vol 112, Num 3, pp 298-302, issn 0340-6717, 5 p.Article

Characterisation of interstitial duplications and triplications of chromosome 15q11-q13ROBERTS, Sian E; DENNIS, Nicholas R; BROWNE, Caroline E et al.Human genetics. 2002, Vol 110, Num 3, pp 227-234, issn 0340-6717Article

Breakpoint mapping and haplotype analysis of three reciprocal translocations identify a novel recurrent translocation in two unrelated families : t(4;11)(p16.2;p15.4)THOMAS, N. Simon; MALONEY, Viv; BRYANT, Victoria et al.Human genetics. 2009, Vol 125, Num 2, pp 181-188, issn 0340-6717, 8 p.Article

Breakpoint Mapping and Array CGH in Translocations : Comparison of a Phenotypically Normal and an Abnormal CohortBAPTISTA, Julia; MERCER, Catherine; PRIGMORE, Elena et al.American journal of human genetics. 2008, Vol 82, Num 4, pp 927-936, issn 0002-9297, 10 p.Article

Investigation of the origins of human autosomal inversionsTHOMAS, N. Simon; BRYANT, Victoria; MALONEY, Vivienne et al.Human genetics. 2008, Vol 123, Num 6, pp 607-616, issn 0340-6717, 10 p.Article

Cancer incidence and mortality in men with klinefelter syndrome : A cohort studySWERDLOW, Anthony J; SCHOEMAKER, Minouk J; HIGGINS, Craig D et al.Journal of the National Cancer Institute. 2005, Vol 97, Num 16, pp 1204-1210, issn 0027-8874, 7 p.Article

Maternal folate polymorphisms and the etiology of human nondisjunctionHASSOLD, Terry J; BURRAGE, Lindsay C; CHAN, Ernest R et al.American journal of human genetics. 2001, Vol 69, Num 2, pp 434-439, issn 0002-9297Article

Mortality risks in patients with constitutional autosomal chromosome deletions in Britain : a cohort studySWERDLOW, Anthony J; SCHOEMAKER, Minouk J; HIGGINS, Craig D et al.Human genetics. 2008, Vol 123, Num 2, pp 215-224, issn 0340-6717, 10 p.Article

Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individualsBAPTISTA, Julia; PRIGMORE, Elena; GRIBBLE, Susan M et al.European journal of human genetics. 2005, Vol 13, Num 11, pp 1205-1212, issn 1018-4813, 8 p.Article

Mortality in patients with klinefelter syndrome in Britain : A cohort studySWERDLOW, Anthony J; HIGGINS, Craig D; SCHOEMAKER, Minouk J et al.The Journal of clinical endocrinology and metabolism. 2005, Vol 90, Num 12, pp 6516-6522, issn 0021-972X, 7 p.Article