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  • Karen E Heath, Ángel Campos-Barros, +11 authors John A. Martignetti
  • Biology, Medicine
  • American journal of human genetics
  • 2001 (First Publication: 1 November 2001)
  • May-Hegglin anomaly (MHA) and Fechtner (FTNS) and Sebastian (SBS) syndromes are autosomal dominant platelet disorders that share macrothrombocytopenia and characteristic leukocyte inclusions. FTNSContinue Reading
  • Sara Benito-Sanz, José Luis Royo, +8 authors Karen E Heath
  • Biology, Medicine
  • Journal of Medical Genetics
  • 2012 (First Publication: 1 July 2012)
  • Background SHOX, located in the pseudoautosomal region 1 (PAR1) of the sexual chromosomes, encodes a transcription factor implicated in human growth. Defects in SHOX or its enhancers have beenContinue Reading
  • Maria Elena Fernández-Sánchez, Olga Criado-García, +6 authors Santiago Rodríguez de Córdoba
  • Medicine, Biology
  • Human molecular genetics
  • 2003 (First Publication: 30 September 2003)
  • Progressive myoclonus epilepsy of Lafora type (LD, MIM 254780) is a fatal autosomal recessive disorder characterized by the presence of progressive neurological deterioration, myoclonus, epilepsy andContinue Reading
  • Sara Benito-Sanz, N. Simon Thomas, +9 authors Karen E Heath
  • Medicine, Biology
  • American journal of human genetics
  • 2005 (First Publication: 1 October 2005)
  • Leri-Weill dyschondrosteosis (LWD) is a pseudoautosomal dominant disorder characterized by disproportionate short stature and a characteristic curving of the radius, known as the "MadelungContinue Reading
  • Marco Seri, Roberto Cusano, +22 authors John A. Martignetti
  • Medicine, Biology
  • Nature genetics
  • 2000 (First Publication: 1 September 2000)
  • The autosomal dominant, giant-platelet disorders, May-Hegglin anomaly (MHA; MIM 155100), Fechtner syndrome (FTNS; MIM 153640) and Sebastian syndrome (SBS), share the triad of thrombocytopenia, largeContinue Reading
  • Karen E Heath, Vilmundur Gudnason, Stephen E. Humphries, Mary Seed
  • Medicine
  • Atherosclerosis
  • 1999 (First Publication: 1 March 1999)
  • In a genetically heterogeneous group of 109 patients with a clinical diagnosis of heterozygous familial hypercholesterolaemia (FH), the influence of gender, apolipoprotein (apo) E genotype and theContinue Reading
  • Sara Benito-Sanz, Eva Barroso, +12 authors Karen E Heath
  • Medicine
  • The Journal of clinical endocrinology and…
  • 2011 (First Publication: 1 February 2011)
  • CONTEXT Léri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia characterized by disproportionate short stature and the Madelung deformity of the forearm. SHOX mutations and pseudoautosomal regionContinue Reading