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Nicholas R. Dennis

Princess Anne Hospital

20

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Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man

2006 Human Genetics
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A Paternally Inherited Duplication in the Prader-Willi/ Angelman Syndrome Critical Region: A Case and Family Study

2005 Journal of Autism and Developmental Disorders
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A familial balanced inverted insertion ins(15)(q15q13q11.2) producing Prader-Willi syndrome, Angelman syndrome and duplication of 15q11.2-q13 in a single family: importance of differentiation from a paracentric inversion

2004 American Journal of Medical Genetics Part A
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An 11p;17p telomeric translocation in two families associated with recurrent miscarriages and Miller-Dieker syndrome.

2002 European Journal of Human Genetics
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Interstitial deletion of chromosome 17 (del(17)(q22q23.3)) confirms a link with oesophageal atresia

2000 Journal of Medical Genetics
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Peroxisomal disorders: clinical and biochemical studies in 15 children and prenatal diagnosis in 7 families.

1999 American Journal of Medical Genetics
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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

1998 American Journal of Medical Genetics
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Hallermann‐Streiff syndrome and osteocraniostenosis

1997 American Journal of Medical Genetics
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Inherited Interstitial Duplications of Proximal 15q: Genotype-Phenotype Correlations

1997 American Journal of Human Genetics
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Lethal syndrome of slender bones, intrauterine fractures, characteristic facial appearance, and cataracts, resembling Hallermann-Streiff syndrome in two sibs

1995 American Journal of Medical Genetics
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Citations (23)