Clinical utility gene card for: Alport syndrome – update 2014

por Hertz, Jens Michael, Thomassen, Mads, Storey, Helen, Flinter, Frances
Publicado 2015

A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report

por Ogilvie, Caroline Mackie, Ahn, Joo Wook, Mann, Kathy, Roberts, Roland G, Flinter, Frances
Publicado 2009

The internet is parents' main source of information about psychiatric manifestations of 22q11.2 deletion syndrome (22q11.2DS)()

por van den Bree, Marianne B.M., Miller, Gregory, Mansell, Elizabeth, Thapar, Anita, Flinter, Frances, Owen, Michael J.
Publicado 2013

Genetic testing in intellectual disability psychiatry: Opinions and practices of UK child and intellectual disability psychiatrists

por Wolfe, Kate, Stueber, Kerstin, McQuillin, Andrew, Jichi, Fatima, Patch, Christine, Flinter, Frances, Strydom, André, Bass, Nick
Publicado 2017

Training Genetic Counsellors to Deliver an Innovative Therapeutic Intervention: their Views and Experience of Facilitating Multi-Family Discussion Groups

por Eisler, Ivan, Flinter, Frances, Grey, Jo, Hutchison, Suzanne, Jackson, Carole, Longworth, Louise, MacLeod, Rhona, McAllister, Marion, Metcalfe, Alison, Patch, Christine, Cope, Buddug, Robert, Glenn, Rowland, Emma, Ulph, Fiona
Publicado 2016

The importance of clinician, patient and researcher collaborations in Alport syndrome

por Rheault, Michelle N., Savige, Judith, Randles, Michael J., Weinstock, André, Stepney, Melissa, Turner, A Neil, Parziale, Gina, Gross, Oliver, Flinter, Frances A, Miner, Jeffrey H, Lagas, Sharon, Gear, Susie, Lennon, Rachel
Publicado 2019

Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice

por Deltas, Constantinos, Papagregoriou, Gregory, Louka, Stavroula F., Malatras, Apostolos, Flinter, Frances, Gale, Daniel P., Gear, Susie, Gross, Oliver, Hoefele, Julia, Lennon, Rachel, Miner, Jeffrey H., Renieri, Alessandra, Savige, Judy, Turner, A. Neil
Publicado 2023

Developing an intervention to facilitate family communication about inherited genetic conditions, and training genetic counsellors in its delivery

por Eisler, Ivan, Ellison, Matthew, Flinter, Frances, Grey, Jo, Hutchison, Suzanne, Jackson, Carole, Longworth, Louise, MacLeod, Rhona, McAllister, Marion, Metcalfe, Alison, Murrells, Trevor, Patch, Christine, Pritchard, Stuart, Robert, Glenn, Rowland, Emma, Ulph, Fiona
Publicado 2016

Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease

por Lennon, Rachel, Stuart, Helen M., Bierzynska, Agnieszka, Randles, Michael J., Kerr, Bronwyn, Hillman, Katherine A., Batra, Gauri, Campbell, Joanna, Storey, Helen, Flinter, Frances A., Koziell, Ania, Welsh, Gavin I., Saleem, Moin A., Webb, Nicholas J. A., Woolf, Adrian S.
Publicado 2015

X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations

por Savige, Judith, Storey, Helen, Il Cheong, Hae, Gyung Kang, Hee, Park, Eujin, Hilbert, Pascale, Persikov, Anton, Torres-Fernandez, Carmen, Ars, Elisabet, Torra, Roser, Hertz, Jens Michael, Thomassen, Mads, Shagam, Lev, Wang, Dongmao, Wang, Yanyan, Flinter, Frances, Nagel, Mato
Publicado 2016

The 2014 International Workshop on Alport Syndrome

por Miner, Jeffrey H, Baigent, Colin, Flinter, Frances, Gross, Oliver, Judge, Parminder, Kashtan, Clifford E, Lagas, Sharon, Savige, Judith, Blatt, Dave, Ding, Jie, Gale, Daniel P, Midgley, Julian P, Povey, Sue, Prunotto, Marco, Renault, Daniel, Skelding, Jules, Turner, A Neil, Gear, Susie
Publicado 2014

Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders

por Wolfe, Kate, Strydom, André, Morrogh, Deborah, Carter, Jennifer, Cutajar, Peter, Eyeoyibo, Mo, Hassiotis, Angela, McCarthy, Jane, Mukherjee, Raja, Paschos, Dimitrios, Perumal, Nagarajan, Read, Stephen, Shankar, Rohit, Sharif, Saif, Thirulokachandran, Suchithra, Thygesen, Johan H, Patch, Christine, Ogilvie, Caroline, Flinter, Frances, McQuillin, Andrew, Bass, Nick
Publicado 2017

Atypical Neurogenesis in Induced Pluripotent Stem Cells From Autistic Individuals

por Adhya, Dwaipayan, Swarup, Vivek, Nagy, Roland, Dutan, Lucia, Shum, Carole, Valencia-Alarcón, Eva P., Jozwik, Kamila Maria, Mendez, Maria Andreina, Horder, Jamie, Loth, Eva, Nowosiad, Paulina, Lee, Irene, Skuse, David, Flinter, Frances A., Murphy, Declan, McAlonan, Grainne, Geschwind, Daniel H., Price, Jack, Carroll, Jason, Srivastava, Deepak P., Baron-Cohen, Simon
Publicado 2021

Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders

por Evers, Jochem M.G., Laskowski, Roman A., Bertolli, Marta, Clayton-Smith, Jill, Deshpande, Charu, Eason, Jacqueline, Elmslie, Frances, Flinter, Frances, Gardiner, Carol, Hurst, Jane A., Kingston, Helen, Kini, Usha, Lampe, Anne K., Lim, Derek, Male, Alison, Naik, Swati, Parker, Michael J., Price, Sue, Robert, Leema, Sarkar, Ajoy, Straub, Volker, Woods, Geoff, Thornton, Janet M., Wright, Caroline F.
Publicado 2017

Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP

por MacKenzie, Katherine C., de Graaf, Bianca M., Syrimis, Andreas, Zhao, Yuying, Brosens, Erwin, Mancini, Grazia M. S., Schot, Rachel, Halley, Dicky, Wilke, Martina, Vøllo, Arve, Flinter, Frances, Green, Andrew, Mansour, Sahar, Pilch, Jacek, Stark, Zornitza, Zamba‐Papanicolaou, Eleni, Christophidou‐Anastasiadou, Violetta, Hofstra, Robert M. W., Jongbloed, Jan D. H., Nicolaou, Nayia, Tanteles, George A., Brooks, Alice S., Alves, Maria M.
Publicado 2020

The 2019 and 2021 International Workshops on Alport Syndrome

por Daga, Sergio, Ding, Jie, Deltas, Constantinos, Savige, Judy, Lipska-Ziętkiewicz, Beata S., Hoefele, Julia, Flinter, Frances, Gale, Daniel P., Aksenova, Marina, Kai, Hirofumi, Perin, Laura, Barua, Moumita, Torra, Roser, Miner, Jeff H., Massella, Laura, Ljubanović, Danica Galešić, Lennon, Rachel, Weinstock, Andrè B., Knebelmann, Bertrand, Cerkauskaite, Agne, Gear, Susie, Gross, Oliver, Turner, A. Neil, Baldassarri, Margherita, Pinto, Anna Maria, Renieri, Alessandra
Publicado 2022

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

por Tatton-Brown, Katrina, Hanks, Sandra, Ruark, Elise, Zachariou, Anna, Duarte, Silvana Del Vecchio, Ramsay, Emma, Snape, Katie, Murray, Anne, Perdeaux, Elizabeth R, Seal, Sheila, Loveday, Chey, Banka, Siddharth, Clericuzio, Carol, Flinter, Frances, Magee, Alex, McConnell, Vivienne, Patton, Michael, Raith, Wolfgang, Rankin, Julia, Splitt, Miranda, Strenger, Volker, Taylor, Clare, Wheeler, Patricia, Temple, I Karen, Cole, Trevor, Douglas, Jenny, Rahman, Nazneen
Publicado 2011

Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

por Tatton-Brown, Katrina, Hanks, Sandra, Ruark, Elise, Zachariou, Anna, Del Vecchio Duarte, Silvana, Ramsay, Emma, Snape, Katie, Murray, Anne, Perdeaux, Elizabeth R, Seal, Sheila, Loveday, Chey, Banka, Siddharth, Clericuzio, Carol, Flinter, Frances, Magee, Alex, McConnell, Vivienne, Patton, Michael, Raith, Wolfgang, Rankin, Julia, Splitt, Miranda, Strenger, Volker, Taylor, Clare, Wheeler, Patricia, Temple, I Karen, Cole, Trevor, Douglas, Jenny, Rahman, Nazneen
Publicado 2018

Clinical and genetic aspects of KBG syndrome

por Low, Karen, Ashraf, Tazeen, Canham, Natalie, Clayton‐Smith, Jill, Deshpande, Charu, Donaldson, Alan, Fisher, Richard, Flinter, Frances, Foulds, Nicola, Fryer, Alan, Gibson, Kate, Hayes, Ian, Hills, Alison, Holder, Susan, Irving, Melita, Joss, Shelagh, Kivuva, Emma, Lachlan, Kathryn, Magee, Alex, McConnell, Vivienne, McEntagart, Meriel, Metcalfe, Kay, Montgomery, Tara, Newbury‐Ecob, Ruth, Stewart, Fiona, Turnpenny, Peter, Vogt, Julie, Fitzpatrick, David, Williams, Maggie, Smithson, Sarah
Publicado 2016

Pathogenicity and selective constraint on variation near splice sites

por Lord, Jenny, Gallone, Giuseppe, Short, Patrick J., McRae, Jeremy F., Ironfield, Holly, Wynn, Elizabeth H., Gerety, Sebastian S., He, Liu, Kerr, Bronwyn, Johnson, Diana S., McCann, Emma, Kinning, Esther, Flinter, Frances, Temple, I. Karen, Clayton-Smith, Jill, McEntagart, Meriel, Lynch, Sally Ann, Joss, Shelagh, Douzgou, Sofia, Dabir, Tabib, Clowes, Virginia, McConnell, Vivienne P.M., Lam, Wayne, Wright, Caroline F., FitzPatrick, David R., Firth, Helen V., Barrett, Jeffrey C., Hurles, Matthew E.
Publicado 2019