Multiple Congenital Melanocytic Nevi and Neurocutaneous Melanosis Are Caused by Postzygotic Mutations in Codon 61 of NRAS
Kinsler, Veronica A., Thomas, Anna C., Ishida, Miho, Bulstrode, Neil W., Loughlin, Sam, Hing, Sandra, Chalker, Jane, McKenzie, Kathryn, Abu-Amero, Sayeda, Slater, Olga, Chanudet, Estelle, Palmer, Rodger, Morrogh, Deborah, Stanier, Philip, Healy, Eugene, Sebire, Neil J., Moore, Gudrun E.
Published in Journal of investigative dermatology (01.09.2013)
Published in Journal of investigative dermatology (01.09.2013)
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Journal Article
SOX2 Plays a Critical Role in the Pituitary, Forebrain, and Eye during Human Embryonic Development
Kelberman, Daniel, de Castro, Sandra C. P, Huang, Shuwen, Crolla, John A, Palmer, Rodger, Gregory, John W, Taylor, David, Cavallo, Luciano, Faienza, Maria F, Fischetto, Rita, Achermann, John C, Martinez-Barbera, Juan Pedro, Rizzoti, Karine, Lovell-Badge, Robin, Robinson, Iain C. A. F, Gerrelli, Dianne, Dattani, Mehul T
Published in The journal of clinical endocrinology and metabolism (01.05.2008)
Published in The journal of clinical endocrinology and metabolism (01.05.2008)
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Journal Article
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome
Gordon, Christopher T, Vuillot, Alice, Marlin, Sandrine, Gerkes, Erica, Henderson, Alex, AlKindy, Adila, Holder-Espinasse, Muriel, Park, Sarah S, Omarjee, Asma, Sanchis-Borja, Mateo, Bdira, Eya Ben, Oufadem, Myriam, Sikkema-Raddatz, Birgit, Stewart, Alison, Palmer, Rodger, McGowan, Ruth, Petit, Florence, Delobel, Bruno, Speicher, Michael R, Aurora, Paul, Kilner, David, Pellerin, Philippe, Simon, Marie, Bonnefont, Jean-Paul, Tobias, Edward S, García-Miñaúr, Sixto, Bitner-Glindzicz, Maria, Lindholm, Pernille, Meijer, Brigitte A, Abadie, Véronique, Denoyelle, Françoise, Vazquez, Marie-Paule, Rotky-Fast, Christa, Couloigner, Vincent, Pierrot, Sébastien, Manach, Yves, Breton, Sylvain, Hendriks, Yvonne M C, Munnich, Arnold, Jakobsen, Linda, Kroisel, Peter, Lin, Angela, Kaban, Leonard B, Basel-Vanagaite, Lina, Wilson, Louise, Cunningham, Michael L, Lyonnet, Stanislas, Amiel, Jeanne
Published in Journal of medical genetics (01.03.2013)
Published in Journal of medical genetics (01.03.2013)
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Journal Article
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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Journal Article
MECP2 duplication in a patient with congenital central hypoventilation
Belligni, Elga F., Palmer, Rodger W., Hennekam, Raoul C.M.
Published in American journal of medical genetics. Part A (01.06.2010)
Published in American journal of medical genetics. Part A (01.06.2010)
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Journal Article
Genomic Deletions Correlate with Underexpression of Novel Candidate Genes at Six Loci in Pediatric Pilocytic Astrocytoma
Potter, Nicola, Karakoula, Aikaterini, Phipps, Kim P., Harkness, William, Hayward, Richard, Thompson, Dominic N.P., Jacques, Thomas S., Harding, Brian, Thomas, David G.T., Palmer, Rodger W., Rees, Jeremy, Darling, John, Warr, Tracy J.
Published in Neoplasia (New York, N.Y.) (01.08.2008)
Published in Neoplasia (New York, N.Y.) (01.08.2008)
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Journal Article
Evaluation of the efficacy of constitutional array-based comparative genomic hybridization in the diagnosis of aneuploidy using genomic and amplified DNA
Tan, Niap H., Palmer, Rodger, Wang, Rubin
Published in The journal of obstetrics and gynaecology research (01.02.2010)
Published in The journal of obstetrics and gynaecology research (01.02.2010)
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Journal Article
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis
Trump, Natalie, McTague, Amy, Brittain, Helen, Papandreou, Apostolos, Meyer, Esther, Ngoh, Adeline, Palmer, Rodger, Morrogh, Deborah, Boustred, Christopher, Hurst, Jane A, Jenkins, Lucy, Kurian, Manju A, Scott, Richard H
Published in Journal of medical genetics (01.05.2016)
Published in Journal of medical genetics (01.05.2016)
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Journal Article
Increased Transactivation Associated with SOX3 Polyalanine Tract Deletion in a Patient with Hypopituitarism
Alatzoglou, Kyriaki S, Kelberman, Daniel, Cowell, Christopher T, Palmer, Rodger, Arnhold, Ivo J. P, Melo, Maria E, Schnabel, Dirk, Grueters, Annette, Dattani, Mehul T
Published in The journal of clinical endocrinology and metabolism (01.04.2011)
Published in The journal of clinical endocrinology and metabolism (01.04.2011)
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Journal Article
Over- and Underdosage of SOX3 Is Associated with Infundibular Hypoplasia and Hypopituitarism
Woods, Kathryn S., Cundall, Maria, Turton, James, Rizotti, Karine, Mehta, Ameeta, Palmer, Rodger, Wong, Jacqueline, Chong, W.K., Al-Zyoud, Mahmoud, El-Ali, Maryam, Otonkoski, Timo, Martinez-Barbera, Juan-Pedro, Paul Thomas, Q., Iain Robinson, C., Lovell-Badge, Robin, Karen Woodward, J., Mehul Dattani, T.
Published in American journal of human genetics (01.05.2005)
Published in American journal of human genetics (01.05.2005)
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Journal Article
Evaluation of array comparative genomic hybridization for genetic analysis of chorionic villus sampling from pregnancy loss in comparison to karyotyping and multiplex ligation-dependent probe amplification
Deshpande, Maitreyee, Harper, Joyce, Holloway, Melissa, Palmer, Rodger, Wang, Rubin
Published in Genetic testing and molecular biomarkers (01.06.2010)
Published in Genetic testing and molecular biomarkers (01.06.2010)
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Journal Article
Young-Onset Parkinsonism due to Homozygous Duplication of α-Synuclein in a Consanguineous Family
KOJOVIC, Maja, SHEERIN, Una-Marie, BHATIA, Kailash P, RUBIO-AGUSTI, Ignacio, SAHA, Anirban, BRAS, Jose, GIBBONS, Vaneesha, PALMER, Rodger, HOULDEN, Henry, HARDY, John, WOOD, Nicholas W
Published in Movement disorders (01.12.2012)
Published in Movement disorders (01.12.2012)
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Journal Article
Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family
Kojovic, Maja, Sheerin, Una-Marie, Rubio-Agusti, Ignacio, Saha, Anirban, Bras, Jose, Gibbons, Vaneesha, Palmer, Rodger, Houlden, Henry, Hardy, John, Wood, Nicholas W., Bhatia, Kailash P.
Published in Movement disorders (01.12.2012)
Published in Movement disorders (01.12.2012)
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Journal Article
Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome
Kenny, Joanna, Lees, Melissa M., Drury, Susan, Barnicoat, Angela, van’t Hoff, William, Palmer, Rodger, Morrogh, Deborah, Waters, Jonathan J., Lench, Nicholas J., Bockenhauer, Detlef
Published in Pediatric nephrology (Berlin, West) (01.08.2011)
Published in Pediatric nephrology (Berlin, West) (01.08.2011)
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Journal Article
Young-onset parkinsonism due to homozygous duplication of [alpha]-synuclein in a consanguineous family
Kojovic, Maja, Sheerin, Una-Marie, Rubio-Agusti, Ignacio, Saha, Anirban, Bras, Jose, Gibbons, Vaneesha, Palmer, Rodger, Houlden, Henry, Hardy, John, Wood, Nicholas W, Bhatia, Kailash P
Published in Movement disorders (01.12.2012)
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Published in Movement disorders (01.12.2012)
Journal Article
Array comparative genomic hybridization: Results from an adult population with drug-resistant epilepsy and co-morbidities
Galizia, Elizabeth C, Srikantha, Maithili, Palmer, Rodger, Waters, Jonathan J, Lench, Nicholas, Ogilvie, Caroline Mackie, Kasperavičiūtė, Dalia, Nashef, Lina, Sisodiya, Sanjay M
Published in European journal of medical genetics (01.05.2012)
Published in European journal of medical genetics (01.05.2012)
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Journal Article
Increased Transactivation Associated with SOX 3 Polyalanine Tract Deletion in a Patient with Hypopituitarism
Alatzoglou, Kyriaki S., Kelberman, Daniel, Cowell, Christopher T., Palmer, Rodger, Arnhold, Ivo J. P., Melo, Maria E., Schnabel, Dirk, Grueters, Annette, Dattani, Mehul T.
Published in The journal of clinical endocrinology and metabolism (01.04.2011)
Published in The journal of clinical endocrinology and metabolism (01.04.2011)
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Journal Article
Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus–Merzbacher disease
Wolf, Nicole I., Sistermans, Erik A., Cundall, Maria, Hobson, Grace M., Davis-Williams, Angelique P., Palmer, Rodger, Stubbs, Paula, Davies, Sally, Endziniene, Milda, Wu, Yvonne, Chong, Wui K., Malcolm, Sue, Surtees, Robert, Garbern, James Y., Woodward, Karen J.
Published in Brain (London, England : 1878) (01.04.2005)
Published in Brain (London, England : 1878) (01.04.2005)
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Journal Article
Corrigendum to Obesity Syndrome, MOMES Caused by Deletion-Duplication (4q35.1 del and 5p14.3 Duplication) AJMG Part A, 2009; 149(4): 833-834
van Haelst, Mieke M., Wang, Rubin, Kantaputra, Piranit N., Palmer, Rodger, Beales, Philip
Published in American journal of medical genetics. Part A (01.07.2010)
Published in American journal of medical genetics. Part A (01.07.2010)
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Journal Article