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Ennio Toscano

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Y Paul Goldberg; Julie MacFarlane; Marcia L E MacDonald; Jay Thompson; M-P Dube; M Mattice; R Fraser; Clint Young; S Hossain; T Pape; B Payne; Christopher C Radomski; G Donaldson; E Ives; J Cox; H Banfield Younghusband; Roger C Green; A Duff; E Boltshauser; G A Grinspan; J H Dimon; B G Sibley; Generoso Andria; Ennio Toscano; J Kerdraon; D Bowsher; Simon N Pimstone; Mark E Samuels; R Sherrington; Michael R Hayden
Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.
Ennio Toscano
Historical views on celiac disease: the contribution of Adolf Baginsky (1843-1918).
Alfredo Pisacane; Ennio Toscano; I Pirri; Paola Continisio; Generoso Andria; B Zoli; Pietro Strisciuglio; Daniela Concolino; M Piccione; C Lo Giudice; S Vicari
Down syndrome and breastfeeding.

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All Publications

2007: Y Paul Goldberg; Julie MacFarlane; Marcia L E MacDonald; Jay Thompson; M-P Dube; M Mattice; R Fraser; Clint Young; S Hossain; T Pape; B Payne; Christopher C Radomski; G Donaldson; E Ives; J Cox; H Banfield Younghusband; Roger C Green; A Duff; E Boltshauser; G A Grinspan; J H Dimon; B G Sibley; Generoso Andria; Ennio Toscano; J Kerdraon; D Bowsher; Simon N Pimstone; Mark E Samuels; R Sherrington; Michael R Hayden
Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.
Clinical genetics 2007;71(4):311-9.
2004: Ennio Toscano
Historical views on celiac disease: the contribution of Adolf Baginsky (1843-1918).
Acta paediatrica (Oslo, Norway : 1992) 2004;93(3):417-8.
2003: Alfredo Pisacane; Ennio Toscano; I Pirri; Paola Continisio; Generoso Andria; B Zoli; Pietro Strisciuglio; Daniela Concolino; M Piccione; C Lo Giudice; S Vicari
Down syndrome and breastfeeding.
Acta paediatrica (Oslo, Norway : 1992) 2003;92(12):1479-81.
2003: Ennio Toscano; Giuseppe Pacileo; Giuseppe Limongelli; Marina Verrengia; O Di Mita; Salvatore Di Maio; Mariacarolina Salerno; Emanuele Miraglia del Giudice; B Caniello; Raffaele Calabrò; Generoso Andria
Subclinical hypothyroidism and Down's syndrome; studies on myocardial structure and function.
Archives of disease in childhood 2003;88(11):1005-8.
2002: Ennio Toscano; Alessandro Simonati; Yasuhiro Indo; Generoso Andria
No mutation in the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type V.
Annals of neurology 2002;52(2):224-7.
2001: Yasuhiro Indo; S Mardy; Yuichi Miura; A Moosa; Essam A Ismail; Ennio Toscano; Generoso Andria; V Pavone; D L Brown; A Brooks; Fumio Endo; I Matsuda
Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency.
Human mutation 2001;18(4):308-18.
2001: Ennio Toscano; V Trivellini; Generoso Andria
Cholelithiasis in Down's syndrome.
Archives of disease in childhood 2001;85(3):242-3.
2001: Ennio Toscano; Generoso Andria
Congenital insensitivity to pain with anhidrosis: an NGF/TrkA-related disorder.
American journal of medical genetics 2001;99(2):164-5.
2000: Ennio Toscano; Roberto Della Casa; S Mardy; L Gaetaniello; F Sadile; Yasuhiro Indo; Claudio Pignata; Generoso Andria
Multisystem involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor(Trk A)-related disorder.
Neuropediatrics 2000;31(1):39-41.
1999: S Mardy; Yuichi Miura; Fumio Endo; I Matsuda; László Sztriha; P Frossard; A Moosa; Essam A Ismail; A Macaya; Generoso Andria; Ennio Toscano; W Gibson; G E Graham; Yasuhiro Indo
Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.
American journal of human genetics 1999;64(6):1570-9.
1998: Ennio Toscano; Anna Perretti; Pietro Balbi; E Silvestro; Generoso Andria; Giancarlo Parenti
Detection of subclinical central nervous system abnormalities in two patients with mucolipidosis III by the use of motor and somatosensory evoked potentials.
Neuropediatrics 1998;29(1):40-2.