Mandibulofacial Dysostosis with Microcephaly:Mutation and Database Update

Autor: Jenny Morton, Francine Pinheiro Favaro, Deborah J. Shears, Fabiola Quintero-Rivera, Art Grix, Shelagh Joss, Margaret H. Harr, Antonie D. Kline, William B. Dobyns, Vanesa López-González, Josh Silver, John C. Johnson, I. Karen Temple, Angela E. Scheuerle, Julie Lauzon, Jane Estrella, Amanda C. Smith, Himanshu Goel, Elaine H. Zackai, Judith Allanson, Ghayda M. Mirzaa, Matthew Osmond, Kym M. Boycott, Julie Richer, Taila Hartley, Matthew A. Lines, Laura A. Baker, Alasdair G. W. Hunter, Usha Kini, Johanna Martinezmoles, Louise C. Pyle, Cindy Hudson, Hanna Faghfoury, Susan M. White, Jiddeke M. van de Kamp, Megan R. Vanstone, Dorte L Lildballe, Dennis E. Bulman, Chantal F. Morel, Bitten Schönewolf-Greulich, Tabib Dabir, Cliff J Meldrum, Nick Barrowman, Maria Leine Guion-Almeida, Katrina M. Dipple, Ruobing Zou, Fleur S van Dijk, Lijia Huang, Pernille Axel Gregersen, Anthony Vandersteen, Amy S. Kimball, Karen W. Gripp

Publikováno v: Huang, L, Vanstone, M R, Hartley, T, Osmond, M, Barrowman, N, Allanson, J, Baker, L, Dabir, T A, Dipple, K M, Dobyns, W B, Estrella, J, Faghfoury, H, Favaro, F P, Goel, H, Gregersen, P A, Gripp, K W, Grix, A, Guion-Almeida, M L, Harr, M H, Hudson, C, Hunter, A G W, Johnson, J, Joss, S K, Kimball, A, Kini, U, Kline, A D, Lauzon, J, Lildballe, D L, López-González, V, Martinezmoles, J, Meldrum, C, Mirzaa, G M, Morel, C F, Morton, J E V, Pyle, L C, Quintero-Rivera, F, Richer, J, Scheuerle, A E, Schönewolf-Greulich, B, Shears, D J, Silver, J, Smith, A C, Temple, I K, van de Kamp, J M, van Dijk, F S, Vandersteen, A M, White, S M, Zackai, E H, Zou, R, Bulman, D E, Care4Rare Canada Consortium & UCLA Clinical Genomics Center 2016, ' Mandibulofacial Dysostosis with Microcephaly : Mutation and Database Update ', Human Mutation, vol. 37, no. 2, pp. 148-154 . https://doi.org/10.1002/humu.22924
Care4Rare Canada Consortium 2016, ' Mandibulofacial dysostosis with microcephaly : Mutation and database update ', Human Mutation, vol. 37, no. 2, pp. 148-154 . https://doi.org/10.1002/humu.22924
Huang L, Vanstone MR, Hartley T, Osmond M, Barrowman N, Allanson J, Baker L, Dabir TA, Dipple KM, Dobyns WB7, Estrella J, Faghfoury H, Favaro FP, Goel H, Gregersen PA, Gripp KW, Grix A, Guion-Almeida ML, Harr MH, Hudson C, Hunter AG, Johnson J, Joss SK, Kimball A, Kini U, Kline AD, Lauzon J, Lildballe DL, López-González V, Martinezmoles J, Meldrum C, Mirzaa GM, Morel CF, Morton JE, Pyle LC, Quintero-Rivera F, Richer J, Scheuerle AE, Schönewolf-Greulich B, Shears DJ, Silver J, Smith AC, Temple IK,; UCLA Clinical Genomics Center, van de Kamp JM, van Dijk FS, Vandersteen AM, White SM, Zackai EH, Zou R, Consortium CC, Bulman DE1, Boycott KM, Lines MA. 2016, ' Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update ', Human Mutation, vol. 37, no. 2 . https://doi.org/10.1002/humu.22924

Mandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome comprising microcephaly, craniofacial anomalies, hearing loss, dysmorphic features, and, in some cases, esophageal atresia. Haploinsufficiency of a spliceosomal G

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c1db163302728a8b33ad72971076fcc
https://research.vumc.nl/en/publications/c8ea0851-1536-452e-81b0-89cf246d03b0

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database

Autor: Marni J. Falk, Wen-Hann Tan, Romano Tenconi, Uffe Birk Jensen, Stéphane Decramer, Susan M. White, Lisa A. Schimmenti, Carolyn Wilson-Brackett, Marie Pierre Lavocat, Elisa Benetti, Gabriela Peretz-Amit, Nancy Rodig, Joanne Dixon, Dina J. Zand, Philippe Vanhille, Rajesh Kumar, Corinne Antignac, Régen Drouin, Holly Feret, David W. Stockton, Berta Warman, Gerard C. P. Schaafsma, Abhay Vats, Lawrence R. Shoemaker, Hiep T. Nguyen, David Mowat, Michael R. Eccles, Laurence Heidet, Matthew Bower, John A. Sayer, Francesco Benedicenti, Emily Place, Laura S. Martin, Richard G. Weleber, Gil Binenbaum, Ann Salerno, Xinjing Wang, Sujatha Sastry, Eric A. Pierce, Robert Gise, Kisha D. Johnson, Vincent Morinière, Pierre Cochat, Luisa Murer, Rémi Salomon, Alasdair G. W. Hunter, Tadashi Sato, Judith Allanson

Publikováno v: Human Mutation
Human Mutation; Vol 33
Bower, M, Salomon, R, Allanson, J, Antignac, C, Benedicenti, F, Benetti, E, Binenbaum, G, Jensen, U B, Cochat, P, DeCramer, S, Dixon, J, Drouin, R, Falk, M J, Feret, H, Gise, R, Hunter, A, Johnson, K, Kumar, R, Lavocat, M P, Martin, L, Morinière, V, Mowat, D, Murer, L, Nguyen, H T, Peretz-Amit, G, Pierce, E, Place, E, Rodig, N, Salerno, A, Sastry, S, Sato, T, Sayer, J A, Schaafsma, G C P, Shoemaker, L, Stockton, D W, Tan, W-H, Tenconi, R, Vanhille, P, Vats, A, Wang, X, Warman, B, Weleber, R G, White, S M, Wilson-Brackett, C, Zand, D J, Eccles, M, Schimmenti, L A & Heidet, L 2012, ' Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database ', Human Mutation, vol. 33, no. 3, pp. 457-66 . https://doi.org/10.1002/humu.22020

Renal coloboma syndrome, also known as papillorenal syndrome is an autosomal-dominant disorder characterized by ocular and renal malformations. Mutations in the paired-box gene, PAX2, have been identified in approximately half of individuals with cla

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16ee7cb7b26fec7ef7d4216b0a9792b3

Absence of signs of systemic involvement in four patients with bilateral multiple facial angiofibromas

Autor: Marjan M. Nezarati, Alasdair G. W. Hunter, Lea Velsher

Publikováno v: American Journal of Medical Genetics Part A. :657-664

Facial angiofibromas are a major diagnostic sign for tuberous sclerosis (TS) and MEN1, and the former is probably the first disease to be considered by a geneticist when such lesions are found. They occur in up to 90% of persons with TS and 40–80%

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97cda1c993113aca87ee9f53016ef084
https://doi.org/10.1002/ajmg.a.33320

Gastroschisis: Clinical presentation and associations

Autor: Alasdair G. W. Hunter, Roger E. Stevenson

Publikováno v: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. :219-230

Gastroschisis is a major malformation which requires immediate surgical care to return the exposed viscera to the abdominal cavity, parenteral nutrition until bowel motility permits oral feedings, and evaluation for coexisting malformations. Almost a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::588538996d6b499942a69fdbac123f33
https://doi.org/10.1002/ajmg.c.30178

Physician knowledge and attitudes towards molecular genetic (DNA) testing of their patients

Autor: Alasdair G. W. Hunter, Mario Cappelli, Peter Wright, Linda C. Surh, Ann Kasaboski

Publikováno v: Clinical Genetics. 53:447-455

Objective: To better define the knowledge and attitudes of practicing physicians about genetics; specifically molecular genetics. Further, to examine differences between four practice specialties and to assess variables that affect both knowledge and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d38c60f71e1bdd246f40b479676b43b
https://doi.org/10.1111/j.1399-0004.1998.tb02593.x