Search Results - "Donnai, Dian"

The rise of point-of-care genetics: how the SARS-CoV-2 pandemic will accelerate adoption of genetic testing in the acute setting by McDermott, John H, Burn, John, Donnai, Dian, Newman, William G

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Mutations in LRP2 , which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes by Noonan, Kristin M, MacLaughlin, David T, Loscertales, Maria, Robson, Caroline, Walsh, Christopher A, Al-Gazali, Lihadh, Hill, R Sean, Donnai, Dian, Russell, Meaghan K, Bieth, Eric, Devriendt, Koen, Liu, Tianming, Chassaing, Nicolas, Teebi, Ahmad, Pober, Barbara R, Black, Graeme C M, Lacombe, Didier, Donahoe, Patricia K, Kantarci, Sibel

“…Donnai-Barrow syndrome is associated with agenesis of the corpus callosum, congenital diaphragmatic hernia, facial dysmorphology, ocular anomalies,…”
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Patient Empowerment in Clinical Genetics Services by McAllister, Marion, Payne, Katherine, MacLeod, Rhona, Nicholls, Stuart, Dian Donnai, Davies, Linda

“…Outcome measurement in clinical genetics is problematic because the patient benefits are difficult to measure. The aim in this qualitative grounded theory…”
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Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome by Hannibal, Mark C., Buckingham, Kati J., Ng, Sarah B., Ming, Jeffrey E., Beck, Anita E., McMillin, Margaret J., Gildersleeve, Heidi I., Bigham, Abigail W., Tabor, Holly K., Mefford, Heather C., Cook, Joseph, Yoshiura, Koh-ichiro, Matsumoto, Tadashi, Matsumoto, Naomichi, Miyake, Noriko, Tonoki, Hidefumi, Naritomi, Kenji, Kaname, Tadashi, Nagai, Toshiro, Ohashi, Hirofumi, Kurosawa, Kenji, Hou, Jia-Woei, Ohta, Tohru, Liang, Deshung, Sudo, Akira, Morris, Colleen A., Banka, Siddharth, Black, Graeme C., Clayton-Smith, Jill, Nickerson, Deborah A., Zackai, Elaine H., Shaikh, Tamim H., Donnai, Dian, Niikawa, Norio, Shendure, Jay, Bamshad, Michael J.

“…Kabuki syndrome is a rare, multiple malformation disorder characterized by a distinctive facial appearance, cardiac anomalies, skeletal abnormalities, and mild…”
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RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity by Jenkins, Dagan, Seelow, Dominik, Jehee, Fernanda S., Perlyn, Chad A., Alonso, Luís G., Bueno, Daniela F., Donnai, Dian, Josifiova, Dragana, Mathijssen, Irene M.J., Morton, Jenny E.V., Helene Ørstavik, Karen, Sweeney, Elizabeth, Wall, Steven A., Marsh, Jeffrey L., Nürnberg, Peter, Rita Passos-Bueno, Maria, Wilkie, Andrew O.M.

“…Carpenter syndrome is a pleiotropic disorder with autosomal recessive inheritance, the cardinal features of which include craniosynostosis, polysyndactyly,…”
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Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome by Hussain, Muhammad Sajid, Battaglia, Agatino, Szczepanski, Sandra, Kaygusuz, Emrah, Toliat, Mohammad Reza, Sakakibara, Shin-ichi, Altmüller, Janine, Thiele, Holger, Nürnberg, Gudrun, Moosa, Shahida, Yigit, Gökhan, Beleggia, Filippo, Tinschert, Sigrid, Clayton-Smith, Jill, Vasudevan, Pradeep, Urquhart, Jill E., Donnai, Dian, Fryer, Alan, Percin, Ferda, Brancati, Francesco, Dobbie, Angus, Śmigiel, Robert, Gillessen-Kaesbach, Gabriele, Wollnik, Bernd, Noegel, Angelika Anna, Newman, William G., Nürnberg, Peter

“…Filippi syndrome is a rare, presumably autosomal-recessive disorder characterized by microcephaly, pre- and postnatal growth failure, syndactyly, and…”
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Mutations in HPSE2 Cause Urofacial Syndrome by Daly, Sarah B., Urquhart, Jill E., Hilton, Emma, McKenzie, Edward A., Kammerer, Richard A., Lewis, Malcolm, Kerr, Bronwyn, Stuart, Helen, Donnai, Dian, Long, David A., Burgu, Berk, Aydogdu, Ozgu, Derbent, Murat, Garcia-Minaur, Sixto, Reardon, Willie, Gener, Blanca, Shalev, Stavit, Smith, Rupert, Woolf, Adrian S., Black, Graeme C., Newman, William G.

“…Urinary voiding dysfunction in childhood, manifesting as incontinence, dysuria, and urinary frequency, is a common condition. Urofacial syndrome (UFS) is a…”
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GTF2IRD1 in Craniofacial Development of Humans and Mice by Tassabehji, May, Hammond, Peter, Karmiloff-Smith, Annette, Thompson, Pamela, Thorgeirsson, Snorri S, Durkin, Marian E, Popescu, Nicholas C, Hutton, Timothy, Metcalfe, Kay, Rucka, Agnes, Stewart, Helen, Read, Andrew P, Maconochie, Mark, Donnai, Dian

“…Craniofacial abnormalities account for about one-third of all human congenital defects, but our understanding of the genetic mechanisms governing craniofacial…”
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Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor by Kumar, Raman, Palmer, Elizabeth, Gardner, Alison E, Carroll, Renee, Banka, Siddharth, Abdelhadi, Ola, Donnai, Dian, Elgersma, Ype, Curry, Cynthia J, Gardham, Alice, Suri, Mohnish, Malla, Rishikesh, Brady, Lauren Ilana, Tarnopolsky, Mark, Azmanov, Dimitar N, Atkinson, Vanessa, Black, Michael, Baynam, Gareth, Dreyer, Lauren, Hayeems, Robin Z, Marshall, Christian R, Costain, Gregory, Wessels, Marja W, Baptista, Julia, Drummond, James, Leffler, Melanie, Field, Michael, Gecz, Jozef

“…Multiple TREX mRNA export complex subunits (e.g., THOC1, THOC2, THOC5, THOC6, THOC7) have now been implicated in neurodevelopmental disorders (NDDs),…”
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3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome by Willatt, Lionel, Cox, James, Barber, John, Cabanas, Elisabet Dachs, Collins, Amanda, Donnai, Dian, FitzPatrick, David R., Maher, Eddy, Martin, Howard, Parnau, Josep, Pindar, Lesley, Ramsay, Jacqueline, Shaw-Smith, Charles, Sistermans, Erik A., Tettenborn, Michael, Trump, Dorothy, de Vries, Bert B.A., Walker, Kate, Raymond, F. Lucy

“…We report the identification of six patients with 3q29 microdeletion syndrome. The clinical phenotype is variable despite an almost identical deletion size…”
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The emotional effects of genetic diseases: Implications for clinical genetics by McAllister, Marion, Davies, Linda, Payne, Katherine, Nicholls, Stuart, Donnai, Dian, MacLeod, Rhona

“…The aim of this qualitative study was to explore the emotional effects that may be common to many genetic conditions, or risk of genetic conditions, that could…”
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Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3 by BANKA, Siddharth, CHERVINSKY, Elena, NEWMAN, William G, CROW, Yanick J, YEGANEH, Shay, YACOBOVICH, Joanne, DONNAI, Dian, SHALEV, Stavit

“…Severe congenital neutropenia type 4 (SCN4) is an autosomal recessive condition, which was defined recently with identification of the causative mutations in…”
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BMPR2 Haploinsufficiency as the Inherited Molecular Mechanism for Primary Pulmonary Hypertension by Machado, Rajiv D, Pauciulo, Michael W., Thomson, Jennifer R., Lane, Kirk B., Morgan, Neil V., Wheeler, Lisa, Phillips III, John A., Newman, John, Williams, Denise, Galiè, Nazzareno, Manes, Alessandra, McNeil, Keith, Yacoub, Magdi, Mikhail, Ghada, Rogers, Paula, Corris, Paul, Humbert, Marc, Donnai, Dian, Martensson, Gunnar, Tranebjaerg, Lisbeth, Loyd, James E., Trembath, Richard C., Nichols, William C.

“…Primary pulmonary hypertension (PPH) is a potentially lethal disorder, because the elevation of the pulmonary arterial pressure may result in right-heart…”
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Outcome Measurement in Clinical Genetics Services: A Systematic Review of Validated Measures by Payne, Katherine, PhD, MSc, BPharm, MRPharmS, Nicholls, Stuart, MSc, BSc, McAllister, Marion, PhD, MSc, BSc, MacLeod, Rhona, PhD, MSc, BSc, Donnai, Dian, MD, FRCP, OBE, Davies, Linda M., MSc, BSc

“…Abstract Objective This systematic review aimed to inform researchers and policymakers about what validated outcome measures are available to evaluate clinical…”
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Discriminating Power of Localized Three-Dimensional Facial Morphology by Hammond, Peter, Hutton, Tim J., Allanson, Judith E., Buxton, Bernard, Campbell, Linda E., Clayton-Smith, Jill, Donnai, Dian, Karmiloff-Smith, Annette, Metcalfe, Kay, Murphy, Kieran C., Patton, Michael, Pober, Barbara, Prescott, Katrina, Scambler, Pete, Shaw, Adam, Smith, Ann C.M., Stevens, Angela F., Temple, I. Karen, Hennekam, Raoul, Tassabehji, May

“…Many genetic syndromes involve a facial gestalt that suggests a preliminary diagnosis to an experienced clinical geneticist even before a clinical examination…”
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Dysmorphology and the ESHG by Donnai, Dian

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Expanding the clinical spectrum of SLC29A3 gene defects by Spiegel, Ronen, Cliffe, Simon T, Buckley, Michael F, Crow, Yanick J, Urquhart, Jill, Horovitz, Yoseph, Tenenbaum-Rakover, Yardena, Newman, William G, Donnai, Dian, Shalev, Stavit A

“…Abstract H syndrome and pigmented hypertrichosis with insulin dependent diabetes (PHID) are allelic autosomal recessive syndromes reported in the last year to…”
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Outcome measures for clinical genetics services: A comparison of genetics healthcare professionals and patients’ views by Payne, Katherine, Nicholls, Stuart G, McAllister, Marion, MacLeod, Rhona, Ellis, Ian, Donnai, Dian, Davies, Linda M

“…Abstract Objectives To explore genetics professionals’ and patients’ views about which outcome domains are most appropriate to measure the patient benefits of…”
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OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells by ROMIO, Leila, WRIGHT, Victoria, FEATHER, Sally A, PRICE, Karen, WINYARD, Paul J. D, DONNAI, Dian, PORTEOUS, Mary E, FRANCO, Brunella, GIORGIO, Giovanna, MALCOLM, Sue, WOOLF, Adrian S

“…Oral-facial-digital syndrome type 1 (OFD1) causes polycystic kidney disease (PKD) and malformations of the mouth, face and digits. Recently, a gene on Xp22,…”
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Improving Service Evaluation in Clinical Genetics: Identifying Effects of Genetic Diseases on Individuals and Families by McAllister, Marion, Payne, Katherine, Nicholls, Stuart, MacLeod, Rhona, Donnai, Dian, Davies, Linda M.

“…Outcome measurement in clinical genetics is challenging. Outcome attributes used currently have been developed by service providers or adapted from measures…”
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