Clinical utility gene card for: Silver–Russell syndrome

Por Eggermann, Thomas, Buiting, Karin, Temple, I Karen
Publicado em 2011

Clinical utility gene card for: Transient Neonatal Diabetes Mellitus, 6q24-related

Por Mackay, Deborah, Bens, Susanne, Perez de Nanclares, Guiomar, Siebert, Reiner, Temple, I Karen
Publicado em 2014

Defining Morphology: Hands and Feet

Por Biesecker, Leslie G., Aase, Jon M., Clericuzio, Carol, Gurrieri, Fiorella, Temple, I. Karen, Toriello, Helga
Publicado em 2009

A primary care specialist genetics service: a cluster-randomised factorial trial

Por Westwood, Greta, Pickering, Ruth, Latter, Sue, Little, Paul, Gerard, Karen, Lucassen, Anneke, Temple, I Karen
Publicado em 2012

An atypical case of hypomethylation at multiple imprinted loci

Por Baple, Emma L, Poole, Rebecca L, Mansour, Sahar, Willoughby, Catherine, Temple, I Karen, Docherty, Louise E, Taylor, Rohan, Mackay, Deborah J G
Publicado em 2011

Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care

Por Eggermann, Thomas, Netchine, Irène, Temple, I Karen, Tümer, Zeynep, Monk, David, Mackay, Deborah, Grønskov, Karin, Riccio, Andrea, Linglart, Agnès, Maher, Eamonn R
Publicado no Clin Epigenetics (2015)

The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study

Por De Franco, Elisa, Flanagan, Sarah E, Houghton, Jayne AL, Allen, Hana Lango, Mackay, Deborah JG, Temple, I Karen, Ellard, Sian, Hattersley, Andrew T
Publicado no Lancet (2015)

Beckwith–Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1

Por Poole, Rebecca L, Leith, Donald J, Docherty, Louise E, Shmela, Mansur E, Gicquel, Christine, Splitt, Miranda, Temple, I Karen, Mackay, Deborah J G
Publicado em 2012

A statistical method for single sample analysis of HumanMethylation450 array data: genome-wide methylation analysis of patients with imprinting disorders

Por Rezwan, Faisal I, Docherty, Louise E, Poole, Rebecca L, Lockett, Gabrielle A, Arshad, S Hasan, Holloway, John W, Temple, I Karen, Mackay, Deborah JG
Publicado no Clin Epigenetics (2015)

NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes

Por Douglas, Jenny, Hanks, Sandra, Temple, I. Karen, Davies, Sally, Murray, Alexandra, Upadhyaya, Meena, Tomkins, Susan, Hughes, Helen E., Cole, Trevor R. P., Rahman, Nazneen
Publicado em 2003

A 28-kb Deletion Spanning D15S63 (PW71) in Five Families: A Rare Neutral Variant?

Por Buiting, Karin, Dittrich, Bärbel, Dworniczak, Bernd, Lerer, Israela, Abeliovich, Dvorah, Cottrell, Sally, Temple, I. Karen, Harvey, John F., Lich, Christina, Groß, Stephanie, Horsthemke, Bernhard
Publicado em 1999

Clinical utility gene card for: Beckwith–Wiedemann Syndrome

Por Eggermann, Thomas, Algar, Elizabeth, Lapunzina, Pablo, Mackay, Deborah, Maher, Eamonn R, Mannens, Marcel, Netchine, Irène, Prawitt, Dirk, Riccio, Andrea, Temple, I Karen, Weksberg, Rosanna
Publicado em 2014

Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57

Por Bak, Mads, Boonen, Susanne E., Dahl, Christina, Hahnemann, Johanne M. D., Mackay, Deborah J. D. G., Tümer, Zeynep, Grønskov, Karen, Temple, I. Karen, Guldberg, Per, Tommerup, Niels
Publicado no BMC Med Genet (2016)

Megalencephaly Syndromes: Exome Pipeline Strategies for Detecting Low-Level Mosaic Mutations

Por Tapper, William J., Foulds, Nicola, Cross, Nicholas C. P., Aranaz, Paula, Score, Joannah, Hidalgo-Curtis, Claire, Robinson, David O., Gibson, Jane, Ennis, Sarah, Temple, I. Karen, Collins, Andrew
Publicado em 2014

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

Por Eggermann, Thomas, Perez de Nanclares, Guiomar, Maher, Eamonn R., Temple, I. Karen, Tümer, Zeynep, Monk, David, Mackay, Deborah J. G., Grønskov, Karen, Riccio, Andrea, Linglart, Agnès, Netchine, Irène
Publicado no Clin Epigenetics (2015)

Erratum to: Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

Por Eggermann, Thomas, de Nanclares, Guiomar Perez, Maher, Eamonn R., Temple, I. Karen, Tümer, Zeynep, Monk, David, Mackay, Deborah J. G., Grønskov, Karen, Riccio, Andrea, Linglart, Agnès, Netchine, Irène
Publicado no Clin Epigenetics (2016)

Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes

Por Docherty, Louise E, Rezwan, Faisal I, Poole, Rebecca L, Jagoe, Hannah, Lake, Hannah, Lockett, Gabrielle A, Arshad, Hasan, Wilson, David I, Holloway, John W, Temple, I Karen, Mackay, Deborah J G
Publicado em 2014

Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations

Por Tatton-Brown, Katrina, Douglas, Jenny, Coleman, Kim, Baujat, Geneviève, Cole, Trevor R. P., Das, Soma, Horn, Denise, Hughes, Helen E., Temple, I. Karen, Faravelli, Francesca, Waggoner, Darrel, Türkmen, Seval, Cormier-Daire, Valérie, Irrthum, Alexandre, Rahman, Nazneen
Publicado em 2005

Role of Noninsulin Therapies Alone or in Combination in Chromosome 6q24-Related Transient Neonatal Diabetes: Sulfonylurea Improves but Does Not Always Normalize Insulin Secretion

Por Carmody, David, Beca, Flavius A., Bell, Charles D., Hwang, Jessica L., Dickens, Jazzmyne T., Devine, Nancy A., Mackay, Deborah J.G., Temple, I. Karen, Hays, Lisa R., Naylor, Rochelle N., Philipson, Louis H., Greeley, Siri Atma W.
Publicado no Diabetes Care (2015)

Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence

Por Gordon, Christopher T., Attanasio, Catia, Bhatia, Shipra, Benko, Sabina, Ansari, Morad, Tan, Tiong Y., Munnich, Arnold, Pennacchio, Len A., Abadie, Véronique, Temple, I. Karen, Goldenberg, Alice, van Heyningen, Veronica, Amiel, Jeanne, FitzPatrick, David, Kleinjan, Dirk A., Visel, Axel, Lyonnet, Stanislas
Publicado no Hum Mutat (2014)