The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia TardaThe American Journal of Human Genetics - Tập 68 - Trang 1386-1397 - 2001
A.K. Gedeon, G.E. Tiller, M. Le Merrer, S. Heuertz, L. Tranebjaerg, D. Chitayat, S. Robertson, I.A. Glass, R. Savarirayan, W.G. Cole, D.L. Rimoin, B.G. Kousseff, H. Ohashi, B. Zabel, A. Munnich, J. Gecz, J.C. Mulley
Variants in CHEK2 Other than 1100delC Do Not Make a Major Contribution to Breast Cancer SusceptibilityThe American Journal of Human Genetics - Tập 72 - Trang 1023-1028 - 2003
Mieke Schutte, Sheila Seal, Rita Barfoot, Hanne Meijers-Heijboer, Marijke Wasielewski, D. Gareth Evans, Diana Eccles, Carel Meijers, Frans Lohman, Jan Klijn, Ans van den Ouweland, P. Andrew Futreal, Katherine L. Nathanson, Barbara L. Weber, Douglas F. Easton, Michael R. Stratton, Nazneen Rahman
Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing HeritabilityThe American Journal of Human Genetics - Tập 86 Số 6 - Trang 892-903 - 2010
Feng Zhang, Pavel Seeman, Pengfei Liu, Marian A. J. Weterman, Claudia Gonzaga‐Jauregui, Charles F. Towne, Sat Dev Batish, Els De Vriendt, Peter De Jonghe, Bernd Rautenstrauß, Klaus-Henning Krause, Mehrdad Khajavi, Jan Posadka, Antoon Vandenberghe, Francesc Palau, Lionel Van Maldergem, Frank Baas, Vincent Timmerman, James R. Lupski
A Genomewide Association Study of Skin Pigmentation in a South Asian PopulationThe American Journal of Human Genetics - Tập 81 - Trang 1119-1132 - 2007
Renee P. Stokowski, P.V. Krishna Pant, Tony Dadd, Amelia Fereday, David A. Hinds, Carl Jarman, Wendy Filsell, Rebecca S. Ginger, Martin R. Green, Frans J. van der Ouderaa, David R. Cox
Sex-Based Analysis of De Novo Variants in Neurodevelopmental DisordersThe American Journal of Human Genetics - Tập 105 - Trang 1274 - 2019
Trygve E. Bakken, Kyle Retterer, Zhancheng Zhang, Amy B. Wilfert, Raphael A. Bernier, Evan E. Eichler, Tychele N. Turner, Rebecca I. Torene, Micah R. Pepper
While genes with an excess of de novo mutations (DNMs) have been identified in children with neurodevelopmental disorders (NDDs), few studies focus on DNM patterns where the sex of affected children is examined separately. We considered ∼8,825 sequenced parent-child trios (n ∼26,475 individuals) and identify 54 genes with a DNM enrichment in males (n = 18), females (n = 17), or overlapping in both...... hiện toàn bộ
#sex bias #neurodevelopmental disorder #autism #intellectual disability #female protective effect #X chromosome