Search Results - "Shaw‐Smith, Charles"

Phenotypic expansion of Bosch–Boonstra–Schaaf optic atrophy syndrome and further evidence for genotype–phenotype correlations by Rech, Megan E., McCarthy, John M., Chen, Chun‐An, Edmond, Jane C., Shah, Veeral S., Bosch, Daniëlle G. M., Berry, Gerard T., Williams, Linford, Madan‐Khetarpal, Suneeta, Niyazov, Dmitriy, Shaw‐Smith, Charles, Kovar, Erin M., Lupo, Philip J., Schaaf, Christian P.

“…Bosch–Boonstra–Schaaf Optic Atrophy Syndrome (BBSOAS) is an autosomal dominant neurodevelopmental disorder caused by loss‐of‐function variants in NR2F1 and…”
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Clinical geneticists' views of VACTERL/VATER association by Solomon, Benjamin D., Bear, Kelly A., Kimonis, Virginia, de Klein, Annelies, Scott, Daryl A., Shaw-Smith, Charles, Tibboel, Dick, Reutter, Heiko, Giampietro, Philip F.

“…VACTERL association (sometimes termed “VATER association” depending on which component features are included) is typically defined by the presence of at least…”
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Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus by Sansbury, Francis H, Kirel, Birgül, Caswell, Richard, Allen, Hana Lango, Lango Allen, Hana, Flanagan, Sarah E, Hattersley, Andrew T, Ellard, Sian, Shaw-Smith, Charles J

“…Neonatal diabetes is a highly genetically heterogeneous disorder. There are over 20 distinct syndromic and non-syndromic forms, including dominant, recessive…”
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Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: Roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature by Shaw-Smith, Charles

“…Abstract Esophageal atresia with/without tracheo-esophageal fistula is a relatively common malformation, occurring in around 1 in 3500 births. In around half…”
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Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis by Weedon, Michael N, Cebola, Inês, Patch, Ann-Marie, Flanagan, Sarah E, De Franco, Elisa, Caswell, Richard, Rodríguez-Seguí, Santiago A, Shaw-Smith, Charles, Cho, Candy H-H, Allen, Hana Lango, Houghton, Jayne A L, Roth, Christian L, Chen, Rongrong, Hussain, Khalid, Marsh, Phil, Vallier, Ludovic, Murray, Anna, Ellard, Sian, Ferrer, Jorge, Hattersley, Andrew T

“…Andrew Hattersley, Jorge Ferrer and colleagues use epigenomic annotation of pancreatic progenitor cells to guide the interpretation of whole-genome sequences…”
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GATA6 Mutations Cause a Broad Phenotypic Spectrum of Diabetes From Pancreatic Agenesis to Adult-Onset Diabetes Without Exocrine Insufficiency by DE FRANCO, Elisa, SHAW-SMITH, Charles, FLANAGAN, Sarah E, SHEPHERD, Maggie H, NDM CONSORTIUM, International, HATTERSLEY, Andrew T, ELLARD, Sian

“…We recently reported de novo GATA6 mutations as the most common cause of pancreatic agenesis, accounting for 15 of 27 (56%) patients with insulin-treated…”
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GATA4 Mutations Are a Cause of Neonatal and Childhood-Onset Diabetes by SHAW-SMITH, Charles, DE FRANCO, Elisa, MIEDZYBRODZKA, Zosia, DEJA, Grazyna, WLODARSKA, Iwona, MLYNARSKI, Wojciech, FERRER, Jorge, HATTERSLEY, Andrew T, ELLARD, Sian, ALLEN, Hana Lango, BATLLE, Marta, FLANAGAN, Sarah E, BOROWIEC, Maciej, TAPLIN, Craig E, VAN ALFEN-VAN DER VELDEN, Janiëlle, CRUZ-ROJO, Jaime, PEREZ DE NANCLARES, Guiomar

“…The GATA family zinc finger transcription factors GATA4 and GATA6 are known to play important roles in the development of the pancreas. In mice, both Gata4 and…”
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Review of genetic factors in intestinal malrotation by Martin, Vicki, Shaw-Smith, Charles

“…Intestinal malrotation is well covered in the surgical literature from the point of view of operative management, but few reviews to date have attempted to…”
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Further delineation of Malan syndrome by Priolo, Manuela, Schanze, Denny, Tatton‐Brown, Katrin, Mulder, Paul A., Tenorio, Jair, Kooblall, Kreepa, Acero, Inés Hernández, Alkuraya, Fowzan S., Arias, Pedro, Bernardini, Laura, Bijlsma, Emilia K., Cole, Trevor, Coubes, Christine, Dapia, Irene, Davies, Sally, Di Donato, Nataliya, Elcioglu, Nursel H., Fahrner, Jill A., Foster, Alison, González, Noelia García, Huber, Ilka, Iascone, Maria, Kaiser, Ann‐Sophie, Kamath, Arveen, Liebelt, Jan, Lynch, Sally Ann, Maas, Saskia M., Mammì, Corrado, Mathijssen, Inge B., McKee, Shane, Menke, Leonie A., Mirzaa, Ghayda M., Montgomery, Tara, Neubauer, Dorothee, Neumann, Thomas E., Pintomalli, Letizia, Pisanti, Maria Antonietta, Plomp, Astrid S., Price, Sue, Salter, Claire, Santos‐Simarro, Fernando, Sarda, Pierre, Segovia, Mabel, Shaw‐Smith, Charles, Smithson, Sarah, Suri, Mohnish, Valdez, Rita Maria, Haeringen, Arie, Hagen, Johanna M., Zollino, Marcela, Lapunzina, Pablo, Thakker, Rajesh V., Zenker, Martin, Hennekam, Raoul C.

“…Malan syndrome is an overgrowth disorder described in a limited number of individuals. We aim to delineate the entity by studying a large group of affected…”
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Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design by Tolonen, Jussi Pekka, Parolin Schnekenberg, Ricardo, McGowan, Simon, Sims, David, McEntagart, Meriel, Elmslie, Frances, Shears, Debbie, Stewart, Helen, Tofaris, George K., Dabir, Tabib, Morrison, Patrick J., Johnson, Diana, Hadjivassiliou, Marios, Ellard, Sian, Shaw‐Smith, Charles, Znaczko, Anna, Dixit, Abhijit, Suri, Mohnish, Sarkar, Ajoy, Harrison, Rachel E., Jones, Gabriela, Houlden, Henry, Ceravolo, Giorgia, Jarvis, Joanna, Williams, Jonathan, Shanks, Morag E., Clouston, Penny, Rankin, Julia, Blumkin, Lubov, Lerman‐Sagie, Tally, Ponger, Penina, Raskin, Salmo, Granath, Katariina, Uusimaa, Johanna, Conti, Hector, McCann, Emma, Joss, Shelagh, Blakes, Alexander J.M., Metcalfe, Kay, Kingston, Helen, Bertoli, Marta, Kneen, Rachel, Lynch, Sally Ann, Martínez Albaladejo, Inmaculada, Moore, Austen Peter, Jones, Wendy D., Becker, Esther B.E., Németh, Andrea H.

“…Background The ITPR1 gene encodes the inositol 1,4,5‐trisphosphate (IP3) receptor type 1 (IP3R1), a critical player in cerebellar intracellular calcium…”
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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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Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia by Shaw-Smith, Charles, Flanagan, Sarah E, Patch, Ann-Marie, Grulich-Henn, Juergen, Habeb, Abdelhadi M, Hussain, Khalid, Pomahacova, Renata, Matyka, Krystyna, Abdullah, Mohamed, Hattersley, Andrew T, Ellard, Sian

“…Permanent neonatal diabetes mellitus (PNDM) is diagnosed within the first 6 months of life, and is usually monogenic in origin. Heterozygous mutations in…”
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Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus by Sansbury, Francis H, Kirel, Birgül, Caswell, Richard, Lango Allen, Hana, Flanagan, Sarah E, Hattersley, Andrew T, Ellard, Sian, Shaw-Smith, Charles J

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Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report by Clissold, Rhian L, Clarke, Helen C, Spasic-Boskovic, Olivera, Brugger, Kim, Abbs, Stephen, Bingham, Coralie, Shaw-Smith, Charles

“…Heterozygous mutations in the gene encoding renin (REN) cause autosomal dominant tubulointerstitial kidney disease (ADTKD), early-onset anaemia and…”
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Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome by Wakeling, Emma, McEntagart, Meriel, Bruccoleri, Michael, Shaw-Smith, Charles, Stals, Karen L., Wakeling, Matthew, Barnicoat, Angela, Beesley, Clare, Hanson-Kahn, Andrea K., Kukolich, Mary, Stevenson, David A., Campeau, Philippe M., Ellard, Sian, Elsea, Sarah H., Yang, Xiang-Jiao, Caswell, Richard C.

“…Histone deacetylases play crucial roles in the regulation of chromatin structure and gene expression in the eukaryotic cell, and disruption of their activity…”
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Marked intrafamilial variability of exocrine and endocrine pancreatic phenotypes due to a splice site mutation in GATA6 by Savova, Radka, De Franco, Elisa, Shaw-Smith, Charles, Georgieva, Ralitza, Konstantinova, Maia, Archinkova, Margarita, Panteleeva, Emilia, Kaneva, Anna, Marinov, Rumen, Ellard, Sian, Hattersley, Andrew

“…The objective of this study was to describe the clinical characteristics of syndromic neonatal diabetes in a family with a GATA6 mutation. A girl, currently…”
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MEN2 screening dilemmas in a family with a novel RET mutation in the MEN2 susceptibility region of the gene, a family history of Hirschsprung disease, and no family history of MEN2-related tumours by Clowes, Virginia E., Shaw-Smith, Charles, Simpson, Helen, Ball, Steve G., Acerini, Carlo L.

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Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation-New MCA/MR syndrome in two affected sibs and a mildly affected mother? by Wieczorek, Dagmar, Shaw-Smith, Charles, Kohlhase, Jürgen, Schmitt, Wolfgang, Buiting, Karin, Coffey, Alison, Howard, Eleanor, Hehr, Ute, Gillessen-Kaesbach, Gabriele

“…The previously undescribed combination of esophageal atresia, hypoplasia of the zygomatic complex, microcephaly, cup‐shaped ears, congenital heart defect, and…”
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Analysis of the ϵ-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity by Valente, Enza-Maria, Misbahuddin, Anjum, Brancati, Francesco, Placzek, Mark R., Garavaglia, Barbara, Salvi, Sergio, Nemeth, Andrea, Shaw-Smith, Charles, Nardocci, Nardo, Bentivoglio, Anna-Rita, Berardelli, Alfredo, Eleopra, Roberto, Dallapiccola, Bruno, Warner, Thomas T.

“…The ϵ‐sarcoglycan gene (SGCE) on human chromosome 7q21 has been reported to be a major locus for inherited myoclonus–dystonia. Linkage to the SGCE locus has…”
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GATA6 haploinsufficiency causes pancreatic agenesis in humans by Allen, Hana Lango, Flanagan, Sarah E, Shaw-Smith, Charles, De Franco, Elisa, Akerman, Ildem, Caswell, Richard, Ferrer, Jorge, Hattersley, Andrew T, Ellard, Sian

“…Andrew Hattersley and colleagues report an exome sequencing study that identifies de novo heterozygous inactivating mutations in GATA6 as a common cause of…”
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