Search Results - "Dennis, NR"

The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes by Gribble, S M, Prigmore, E, Burford, D C, Porter, K M, Ng, Bee Ling, Douglas, E J, Fiegler, H, Carr, P, Kalaitzopoulos, D, Clegg, S, Sandstrom, R, Temple, I K, Youings, S A, Thomas, N S, Dennis, N R, Jacobs, P A, Crolla, J A, Carter, N P

“…Objective: To describe the systematic analysis of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes,…”
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The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders by Bolton, Patrick Farrar, Dennis, N.R., Browne, C.E., Thomas, N.S., Veltman, M.W.M., Thompson, R.J., Jacobs, P.

“…This study investigated the phenotypic manifestations of interstitial duplications of chromosome 15 that involve the Prader‐Willi/Angelman syndrome critical…”
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Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study by Burn, J, Brennan, P, Little, J, Holloway, S, Coffey, R, Somerville, J, Dennis, NR, Allan, L, Arnold, R, Deanfield, JE, Godman, M, Houston, A, Keeton, B, Oakley, C, Scott, O, Silove, E, Wilkinson, J, Pembrey, M, Hunter, AS

“…Congenital heart defects are generally assumed to have a multifactorial aetiology. We have tested this hypothesis by studying adults with heart defects and…”
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Subtelomeric rearrangements: results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH by JOYCE, C. A, DENNIS, N. R, COOPER, S, BROWNE, C. E

“…The cause of mental retardation, present in approximately 3% of the population, is unexplained in the majority of cases. Recent reports have suggested that…”
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Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes by Aldred, M A, Sanford, R O C, Thomas, N S, Barrow, M A, Wilson, L C, Brueton, L A, Bonaglia, M C, Hennekam, R C M, Eng, C, Dennis, N R, Trembath, R C

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Array painting: a method for the rapid analysis of aberrant chromosomes using DNA microarrays by Fiegler, H, Gribble, S M, Burford, D C, Carr, P, Prigmore, E, Porter, K M, Clegg, S, Crolla, J A, Dennis, N R, Jacobs, P, Carter, N P

“…Objective: The authors describe a method, termed array painting, which allows the rapid, high resolution analysis of the content and breakpoints of aberrant…”
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Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13 by Dennis, N.R., Veltman, M.W.M., Thompson, R., Craig, E., Bolton, P.F., Thomas, N.S.

“…We present clinical data on 33 subjects with additional copies of the Prader‐Willi‐Angelman critical region (PWACR) contained in a supernumerary marker…”
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Clinical and Mutational Spectrum of Mowat–Wilson Syndrome by Zweier, Christiane, Thiel, Christian T, Dufke, Andreas, Crow, Yanick J, Meinecke, Peter, Suri, Mohnish, Ala-Mello, Sirpa, Beemer, Frits, Bernasconi, Sergio, Bianchi, Paolo, Bier, Andrea, Devriendt, Koen, Dimitrov, Boyan, Firth, Helen, Gallagher, Renata C, Garavelli, Livia, Gillessen-Kaesbach, Gabriele, Hudgins, Louanne, Kääriäinen, Helena, Karstens, Susan, Krantz, Ian, Mannhardt, Anca, Medne, Livija, Mücke, Jürgen, Kibaek, Maria, Krogh, Lotte Nylandsted, Peippo, Maarit, Rittinger, Olaf, Schulz, Solveig, L Schelley, Susan, Temple, I Karen, Dennis, Nick R, Van der Knaap, Marjo S, Wheeler, Patricia, Yerushalmi, Baruch, Zenker, Martin, Seidel, Heide, Lachmeijer, A, Prescott, Trine, Kraus, Cornelia, Lowry, R Brian, Rauch, Anita

“…Mowat–Wilson Syndrome is a recently delineated mental retardation syndrome usually associated with multiple malformations and a recognizable facial phenotype…”
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A Paternally Inherited Duplication in the Prader-Willi/Angelman Syndrome Critical Region: A Case and Family Study by Veltman, Marijcke W. M, Thompson, Russell J, Craig, Ellen E, Dennis, Nicholas R, Roberts, Sian E, Moore, Vanessa, Brown, Josie A, Bolton, Patrick F

“…The Prader-Willi/Angelman Critical Region (PWACR; Chromosome 15q11-13) is of interest as a potential locus for genes conferring susceptibility to autism…”
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Characterisation of interstitial duplications and triplications of chromosome 15q11-q13 by ROBERTS, Sian E, DENNIS, Nicholas R, BROWNE, Caroline E, WILLATT, Lionel, WOODS, C. Geoffrey, CROSS, Ian, JACOBS, Patricia A, THOMAS, N. Simon

“…Chromosome 15 is frequently involved in the formation of structural rearrangements. We report the molecular characterisation of 16 independent interstitial…”
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Inherited Interstitial Duplications of Proximal 15q: Genotype-Phenotype Correlations by Browne, C.E., Dennis, N.R., Maher, E., Long, F.L., Nicholson, J.C., Sillibourne, J., Barber, J.C.K.

“…We present the cytogenetic, molecular cytogenetic, and molecular genetic results on 20 unrelated patients with an interstitial duplication of the proximal long…”
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Xp deletions associated with autism in three females by THOMAS, N. S, SHARP, A. J, BROWNE, C. E, SKUSE, D, HARDIE, C, DENNIS, N. R

“…We report eight females with small deletions of the short arm of the X chromosome, three of whom showed features of autism. Our results suggest that there may…”
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Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders by Bolton, Patrick F, Veltman, Marijcke W M, Weisblatt, Emma, Holmes, Joanne R, Thomas, N Simon, Youings, Sheila A, Thompson, Russell J, Roberts, Siân E, Dennis, Nicholas R, Browne, Caroline E, Goodson, Sally, Moore, Vanessa, Brown, Josie

“…The frequency of abnormalities of 15q11-q13 and other possibly causal medical disorders including karyotypic abnormalities was investigated in an unselected…”
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Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences by BARBER, John C. K, THOMAS, N. Simon, LUNDSTEEN, Claes, COLLINSON, Morag N, DENNIS, Nick R, LIEHR, Thomas, WEISE, Anja, BELITZ, Britta, PFEIFFER, Lutz, KIRCHHOFF, Maria, KRAG-OLSEN, Bente

“…Segmental aneuploidy usually has phenotypic consequences but unbalanced rearrangements without phenotypic consequences have also been reported. In particular,…”
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FISH and molecular study of autosomal supernumerary marker chromosomes excluding those derived from chromosomes 15 and 22: I. Results of 26 new cases by Crolla, John A., Long, Fiona, Rivera, Horacio, Dennis, Nicholas R.

“…The chromosomal origins and in some cases the molecular composition of 26 autosomal supernumerary marker chromosomes (SMC) were identified using combined…”
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Interstitial deletion of chromosome 17 (del(17)(q22q23.3)) confirms a link with oesophageal atresia by MARSH, AIDAN J, WELLESLEY, DIANA, BURGE, DAVID, ASHTON, MARK, BROWNE, CAROLINE E, DENNIS, NICHOLAS R, TEMPLE, I KAREN

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A supernumerary marker chromosome 15 tetrasomic for the Prader-Willi/Angelman syndrome critical region in a patient with a severe phenotype by Maggouta, F, Roberts, S E, Dennis, N R, Veltman, M W M, Crolla, J A

“…Small SMC(15)s do not contain the PWACR, can be either paternal or maternal in origin, and seem to have no phenotypic effect. 6, 9 Large SMC(15)s usually…”
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The fetal valproate syndrome by DiLiberti, J H, Farndon, P A, Dennis, N R, Curry, C J

“…We evaluated seven children who had been exposed to sodium valproate (or valproic acid) in utero. A consistent facial phenotype was observed in all seven in…”
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Supernumerary marker 15 chromosomes : a clinical, molecular and FISH approach to diagnosis and prognosis by CROLLA, J. A, HARVEY, J. F, SITCH, F. L, DENNIS, N. R

“…Seventeen patients presenting with either de novo or familial supernumerary marker (mar) 15 chromosomes were shown by fluorescent in situ hybridization…”
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Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: A three-year prospective study by Webber, Steven A., Hatchwell, Eli, Barber, John C.K., Daubeney, Piers E.F., Crolla, John A., Salmon, Anthony P., Keeton, Barry R., Temple, I.Karen, Dennis, Nick R.

“…OBJECTIVES: To assess the incidence of microdeletions of chromosomal region 22q11 in a population of infants coming to a regional pediatric cardiac center with…”
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