Homozygosity for a novel deletion downstream of the SHOX gene provides evidence for an additional long range regulatory region with a mild phenotypic effect
Bunyan, David J., Taylor, Emma-Jane, Maloney, Vivienne K., Blyth, Moira
Published in American journal of medical genetics. Part A (01.11.2014)
Published in American journal of medical genetics. Part A (01.11.2014)
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15q overgrowth syndrome: A newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q
Tatton-Brown, Katrina, Pilz, Daniela T., Örstavik, Karen Helene, Patton, Michael, Barber, John C.K., Collinson, Morag N., Maloney, Vivienne K., Huang, Shuwen, Crolla, John A., Marks, Karen, Ormerod, Eli, Thompson, Peter, Nawaz, Zafar, Lese-Martin, Christa, Tomkins, Susan, Waits, Paula, Rahman, Nazneen, McEntagart, Meriel
Published in American journal of medical genetics. Part A (01.02.2009)
Published in American journal of medical genetics. Part A (01.02.2009)
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Interstitial 22q13 deletions : genes other than SHANK3 have major effects on cognitive and language development
WILSON, Heather L, CROLLA, John A, QUARRELL, Oliver, MCDERMID, Heather E, WALKER, Dena, ARTIFONI, Lina, DALLAPICCOLA, Bruno, TAKANO, Takako, VASUDEVAN, Pradeep, SHUWEN HUANG, MALONEY, Vivienne, YOBB, Twila
Published in European journal of human genetics : EJHG (01.11.2008)
Published in European journal of human genetics : EJHG (01.11.2008)
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A Novel Class of Pseudoautosomal Region 1 Deletions Downstream of SHOX Is Associated with Léri-Weill Dyschondrosteosis
Benito-Sanz, Sara, Thomas, N. Simon, Huber, Céline, del Blanco, Darya Gorbenko, Aza-Carmona, Miriam, Crolla, John A., Maloney, Vivienne, Argente, Jesús, Campos-Barros, Ángel, Cormier-Daire, Valérie, Heath, Karen E.
Published in American journal of human genetics (01.10.2005)
Published in American journal of human genetics (01.10.2005)
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Investigation of the origins of human autosomal inversions
Thomas, N. Simon, Bryant, Victoria, Maloney, Vivienne, Cockwell, Annette E., Jacobs, Patricia A.
Published in Human genetics (01.07.2008)
Published in Human genetics (01.07.2008)
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Characterization of SHOX Deletions in Léri-Weill Dyschondrosteosis (LWD) Reveals Genetic Heterogeneity and No Recombination Hotspots
Benito-Sanz, Sara, Gorbenko del Blanco, Darya, Huber, Céline, Thomas, N. Simon, Aza-Carmona, Miriam, Bunyan, David, Maloney, Vivienne, Argente, Jesús, Cormier-Daire, Valérie, Campos-Barros, Ángel, Heath, Karen E.
Published in American journal of human genetics (01.08.2006)
Published in American journal of human genetics (01.08.2006)
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X-Linked Dominant Congenital Ptosis Cosegregating with an Interstitial Insertion of a Chromosome 1p21.3 Fragment into a Quasipalindromic Sequence in Xq27.1
Bunyan, David J., Robinson, David O., Tyers, Anthony G., Huang, Shuwen, Maloney, Vivienne K., Grand, Francis H., Ennis, Sarah, Silva, Samantha R. de, Crolla, John A., McMullan, Tristan F. W.
Published in Open journal of genetics (2014)
Published in Open journal of genetics (2014)
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