Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice
Lindsay, Elizabeth A, Vitelli, Francesca, Su, Hong, Morishima, Masae, Huynh, Tuong, Pramparo, Tiziano, Jurecic, Vesna, Ogunrinu, George, Sutherland, Helen F, Scambler, Peter J, Bradley, Allan, Baldini, Antonio
Published in Nature (London) (01.03.2001)
Published in Nature (London) (01.03.2001)
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Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase
Mills, Philippa B., Surtees, Robert A.H., Champion, Michael P., Beesley, Clare E., Dalton, Neil, Scambler, Peter J., Heales, Simon J.R., Briddon, Anthony, Scheimberg, Irene, Hoffmann, Georg F., Zschocke, Johannes, Clayton, Peter T.
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Published in Human molecular genetics (15.04.2005)
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Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder
Katsanis, Nicholas, Ansley, Stephen J., Badano, Jose L., Eichers, Erica R., Lewis, Richard Alan, Hoskins, Bethan E., Scambler, Peter J., Davidson, William S., Beales, Philip L., Lupski, James R.
Published in Science (American Association for the Advancement of Science) (21.09.2001)
Published in Science (American Association for the Advancement of Science) (21.09.2001)
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Evolving concepts in human renal dysplasia
WOOLF, Adrian S, PRICE, Karen L, SCAMBLER, Peter J, WINYARD, Paul J. D
Published in Journal of the American Society of Nephrology (01.04.2004)
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Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome
Beales, Philip L., Badano, Jose L., Ross, Alison J., Ansley, Stephen J., Hoskins, Bethan E., Kirsten, Brigitta, Mein, Charles A., Froguel, Philippe, Scambler, Peter J., Lewis, Richard Alan, Lupski, James R., Katsanis, Nicholas
Published in American journal of human genetics (01.05.2003)
Published in American journal of human genetics (01.05.2003)
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Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs
Scambler, Peter J, Jadeja, Shalini, Smyth, Ian, Pitera, Jolanta E, Taylor, Martin S, van Haelst, Mieke, Bentley, Elizabeth, McGregor, Lesley, Hopkins, Jason, Chalepakis, Georges, Philip, Nicole, Perez Aytes, Antonio, Watt, Fiona M, Darling, Susan M, Jackson, Ian, Woolf, Adrian S
Published in Nature genetics (01.05.2005)
Published in Nature genetics (01.05.2005)
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Identification of mutations in CUL7 in 3-M syndrome
Chemaitilly, Wassim, Santos, Heloisa Dos, Morin, Gilles, Wang, Rong, Huber, Céline, Superti-Furga, Andrea, Mégarbané, André, Gillessen-Kaesbach, Gabriele, Xu, Xinsong, Pearce, Kerra, Brauner, Raja, Cormier-Daire, Valérie, Scambler, Peter J, Munnich, Arnold, Hennekam, Raoul, Dagoneau, Nathalie, Winter, Robin, Dias-Santagata, Dora, Burgt, Ineke Van der, Read, Andrew, Wu, Kenneth, O'Sullivan, James, Glaser, Anna, Clayton, Peter E, Black, Graeme C M, Pan, Zhen-Qiang, Uzielli, Maria Luisa Giovannucci, Merrer, Martine Le
Published in Nature genetics (01.10.2005)
Published in Nature genetics (01.10.2005)
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Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein
Scambler, Peter J, McGregor, Lesley, Makela, Ville, Darling, Susan M, Vrontou, Sofia, Chalepakis, Georges, Roberts, Catherine, Smart, Nicola, Rutland, Paul, Prescott, Natalie, Hopkins, Jason, Bentley, Elizabeth, Shaw, Alison, Roberts, Emma, Mueller, Robert, Jadeja, Shalini, Philip, Nicole, Nelson, John, Francannet, Christine, Perez-Aytes, Antonio, Megarbane, Andre, Kerr, Bronwyn, Wainwright, Brandon, Woolf, Adrian S, Winter, Robin M
Published in Nature genetics (01.06.2003)
Published in Nature genetics (01.06.2003)
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Microarray analysis detects differentially expressed genes in the pharyngeal region of mice lacking Tbx1
Ivins, Sarah, Lammerts van Beuren, Kelly, Roberts, Catherine, James, Chela, Lindsay, Elizabeth, Baldini, Antonio, Ataliotis, Paris, Scambler, Peter J.
Published in Developmental biology (15.09.2005)
Published in Developmental biology (15.09.2005)
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A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1
Adams, Ralf H, Takamiya, Kogo, Kostourou, Vassiliki, Adams, Susanne, Jadeja, Shalini, Chalepakis, Georges, Scambler, Peter J, Huganir, Richard L
Published in Nature genetics (01.02.2004)
Published in Nature genetics (01.02.2004)
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Retinoic acid down‐regulates Tbx1 expression in vivo and in vitro
Roberts, Catherine, Ivins, Sarah M., James, Chela T., Scambler, Peter J.
Published in Developmental dynamics (01.04.2005)
Published in Developmental dynamics (01.04.2005)
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Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice
Chalepakis, Georges, Vrontou, Sophia, Petrou, Petros, Meyer, Barbara I, Galanopoulos, Vassilis K, Imai, Kenji, Yanagi, Masayuki, Chowdhury, Kamal, Scambler, Peter J
Published in Nature genetics (01.06.2003)
Published in Nature genetics (01.06.2003)
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Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study
Ryan, A K, Goodship, J A, Wilson, D I, Philip, N, Levy, A, Seidel, H, Schuffenhauer, S, Oechsler, H, Belohradsky, B, Prieur, M, Aurias, A, Raymond, F L, Clayton-Smith, J, Hatchwell, E, McKeown, C, Beemer, F A, Dallapiccola, B, Novelli, G, Hurst, J A, Ignatius, J, Green, A J, Winter, R M, Brueton, L, Brøndum-Nielsen, K, Scambler, P J
Published in Journal of medical genetics (01.10.1997)
Published in Journal of medical genetics (01.10.1997)
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A 117-kb Microdeletion Removing HOXD9– HOXD13 and EVX2 Causes Synpolydactyly
Goodman, Frances R., Majewski, Frank, Collins, Amanda L., Scambler, Peter J.
Published in American journal of human genetics (01.02.2002)
Published in American journal of human genetics (01.02.2002)
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Common arterial trunk associated with a homeodomain mutation of NKX2.6
Heathcote, Kirsten, Braybrook, Claire, Abushaban, Lulu, Guy, Michelle, Khetyar, Maher E., Patton, Michael A., Carter, Nicholas D., Scambler, Peter J., Syrris, Petros
Published in Human molecular genetics (01.03.2005)
Published in Human molecular genetics (01.03.2005)
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Targeted Mutagenesis of the Hira Gene Results in Gastrulation Defects and Patterning Abnormalities of Mesoendodermal Derivatives Prior to Early Embryonic Lethality
Roberts, Catherine, Sutherland, Helen F., Farmer, Hannah, Kimber, Wendy, Halford, Stephanie, Carey, Alisoun, Brickman, Joshua M., Wynshaw-Boris, Anthony, Scambler, Peter J.
Published in Molecular and Cellular Biology (01.04.2002)
Published in Molecular and Cellular Biology (01.04.2002)
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Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis
Superti-Furga, Andrea, Shears, Deborah J, Reardon, William, Palmer, Rodger W, Vassal, Humberto J, Scambler, Peter J, Winter, Robin M, Goodman, Frances R
Published in Nature genetics (01.05.1998)
Published in Nature genetics (01.05.1998)
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BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance
Katsanis, Nicholas, Eichers, Erica R., Ansley, Stephen J., Lewis, Richard Alan, Kayserili, Hülya, Hoskins, Bethan E., Scambler, Peter J., Beales, Philip L., Lupski, James R.
Published in American journal of human genetics (01.07.2002)
Published in American journal of human genetics (01.07.2002)
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