Results 51 to 60 of about 104,266 (277)

Association of MC1R Variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study [PDF]

, 2010
<p><b>Background</b> Carrying the cyclin-dependent kinase inhibitor 2A (CDKN2A) germline mutations is associated with a high risk for melanoma. Penetrance of CDKN2A mutations is modified by pigmentation characteristics, nevus phenotypes,
Affleck, P, Aguilera, P, Al\uf3s, L, Ancero, A, Arcangeli, F, Argu\ueds, P, Avril, Mf, Avril, Mf, Azizi, E, Badenas, C, Barrett, Jh, Battistuzzi, L, Bergman, W, Bergman, W, Bertazzi, Pa, BIANCHI-SCARR\uc0, G, Bianhi-Scarr\ue0, G, Bishop, Dt, Bishop, Dt, Borg, \uc5, BRESSAC-DE PAILLERETS, B, Bressac-de Paillerets, B, Bruno, W, Bruno, W., Butille, Ja, Calista, D, Calista, D, Campo, A, Capirossi, D, Carrera, C, Carrera, C, Castel, T, Cervera, R, Chan, M, Chaudru, V, Chaudru, V, Conill, C, Corda, E, Cuellar, F, de Lichy, M, Demenais, F, Duffy, Dl, Elder, D, Elder, De, Gabriel, D, Gargiulo, S, Ghiorzo, P, Ghiorzo, P., Gillanders, E, Gliori, S, Goldstein, Am, Goldstein, Am, Gonzalez, M, Gruis, N, Gruis, Na, H\uf6iom, V, H\uf6iom, V, Hansson, J, Hansson, J, Harbst, K, Harland, M, Harland, M, Harrison, J, Haynes, S, Hayward, Nk, Hayward, Nk, Hogg, D, Hogg, D, Holland, Ea, Holland, Ea., Iglesias, P, Iles, Mm, Ingvar, C, Ingvar, C, J\uf6nsson, G, Jeannin, P, Kanetsky, P, Kanetsky, Pa, Karpavicius, B, Kefford, Rf, Kukalizch, K, Landi, G, Landi, Mt, Landi, Mt, Lang, J, Lang, Jm, Leake, S, Lesueur, F, Lind\ue9n, D, Loo, Jc, M\ue5sb\ue4ck, A, Macgregor, S, Mack, T, Mackie, R, Mackie, Rm, Malvehy, J, Mann, Gj, Mann, Gj, Marti-Laborda, R, Martin, Ng, Maubec, E, Melanoma Genetics Consortium: Demenais, F, Mila, M, Ming, M, Ming, Me, Minghetti, P, Mitra, N, Mohamdi, H, Mohamdi, H, Montgomery, Gw, Nasti, S, NEWTON BISHOP JA,, Newton Bishop JA,, Nielsen, K, Njauw, Cj, Njauw, Cn, Ogbah, Z, Olsson, H, Olsson, H, Origone, P, Palmer, J, Palou, J, Parossian, S, Pastorino, L, Pastorino, L, Puig, S, Puig, S, Queirolo, P, RANDERSON-MOOR, J, Randerson-Moor, J, Ruffin, A, Rull, R, S\ue1nchez, M, Schmid, H, Stark, M, Taylor, Jc, Taylor, Y, Tesema, L, Tsao, H, Tsao, H, Tucker, Ma, Tucker, Ma, Tuominen, R, VAN BELLE, P, Van Belle, P, VAN DER VELDEN, P, van der Velden, P, van Mourik, L, van Nieuwpport FA,, Vidal-Sicart, S, Vilalta, A, Vilella, R, Whiteman, Dc, Whittaker, L, Yang, Xr, Yang, Xr   +155 more
core   +2 more sources

Sporadic adult onset dystonia: sensory abnormalities as an endophenotype in unaffected relatives [PDF]

Journal of Neurology, Neurosurgery &amp; Psychiatry, 2007
Most patients with adult onset primary torsion dystonia (AOPTD) have the sporadic form of the disease. They may however be the only manifesting family members of a poorly penetrant genetic disorder. Sensory changes, including structural abnormalities of the primary sensory cortex, are found in AOPTD. Spatial discrimination threshold (SDT), a measure of
Richard, Walsh, John P, O'Dwyer, Ifthikar H, Sheikh, Sean, O'Riordan, Tim, Lynch, Michael, Hutchinson   +5 more
openaire   +2 more sources

Revealing a brain network endophenotype in families with idiopathic generalised epilepsy.

PLoS ONE, 2014
Idiopathic generalised epilepsy (IGE) has a genetic basis. The mechanism of seizure expression is not fully known, but is assumed to involve large-scale brain networks. We hypothesised that abnormal brain network properties would be detected using EEG in
Fahmida A Chowdhury, Wessel Woldman, Thomas H B FitzGerald, Robert D C Elwes, Lina Nashef, John R Terry, Mark P Richardson   +6 more
doaj   +1 more source

Substance use disorders in adolescents with attention deficit hyperactivity disorder: a 4-year follow-up study [PDF]

, 2013
Aim To examine the relationship between a childhood diagnosis of attention deficit hyperactivity disorder (ADHD) with or without oppositional defiant disorder (ODD)/conduct disorder (CD) and the development of later alcohol/drug use disorder ...
Buitelaar, JK, Faraone, SV, Franke, B, Groenman, AP, Oades, RD, Oosterlaan, J, Roeyers, Herbert, Rommelse, N, Sergeant, JA   +8 more
core   +3 more sources

Anti-Saccharomyces cerevisiae antibodies in patients with inflammatory bowel disease and their first-degree relatives: Potential clinical value [PDF]

, 2002
Anti-Saccharomyces cerevisiae antibodies (ASCA) have been described as specific markers in Crohn's disease and their healthy first-degree relatives. 171 patients with Crohn's disease, their 105 first-degree relatives, 145 patients with ulcerative colitis
Folwaczny, Christian, Glas, J., Herbinger, K. H., Hoelscher, Michael, Török, H.-P., Vilsmaier, F.   +5 more
core   +1 more source

Serum Cytokine Profile of Unaffected First-degree Relatives of Patients with Rheumatoid Arthritis [PDF]

The Journal of Rheumatology, 2014
Objective.Various cytokines have been implicated in the pathogenesis of rheumatoid arthritis (RA) and it is known that elevations in multiple cytokines occur prior to disease onset. The objective of our study is to determine whether the cytokine profile in unaffected first-degree relatives (FDR) of patients with RA is distinct from healthy controls ...
Barra, Lillian, Summers, Kelly, Bell, David, Cairns, Ewa   +3 more
openaire   +4 more sources

Aggressiveness and emotion dysregulation among adolescents first degree relatives of schizophrenia patients

European Psychiatry, 2023
Introduction Schizophrenia is a severe debilitating condition, with elevated level of aggressiveness reaching 33% in a large sample of patients. Unaffected biological relatives of schizophrenia patients share similar though less severe neurocognitive ...
F. Ghrissi, F. Fekih-romdhane, M. Stambouli, B. Abassi, M. Cheour   +4 more
doaj   +1 more source

Serum antibodies in first-degree relatives of patients with IBD: A marker of disease susceptibility? A follow-up pilot-study after 7 years [PDF]

, 2005
Introduction: Various disease-specific serum antibodies were described in patients with inflammatory bowel disease and their yet healthy first-degree relatives.
H.P. Török, J. Glas, H.C. Hollay, R. Gruber, M. Osthoff, L. Tonenchi, C. Brückl, T. Mussack, M. Folwaczny, C. Folwaczny, Glas J, Quinton JF, Ruemmele FM, Cambridge G, Colombel JF, Shanahan F, Hoffman IE, Torok HP, Seibold F, Folwaczny C, Folwaczny C, Folwaczny C, Seibold F, Shanahan F, Folwaczny C, Bansi DS, Klebl FH, Klebl FH, Torok HP, Lombardi G   +29 more
core   +4 more sources

Alterations in functional brain network structure induced by subchronic phencyclidine (PCP) treatment parallel those seen in schizophrenia [PDF]

, 2010
of poster presentation shown at the 2nd Biennial Schizophrenia International Research Conference on Alterations in functional brain network structure induced by subchronic phencyclidine (PCP) treatment parallel those seen in ...
Dawson, Neil, Higham, Des, Morris, Brian, Pratt, Judith   +3 more
core   +1 more source

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: Experience of the FSHD Italian National Registry [PDF]

, 2016
OBJECTIVES: Facioscapulohumeral muscular dystrophy type 1 (FSHD1) has been genetically linked to reduced numbers ( 64 8) of D4Z4 repeats at 4q35. Particularly severe FSHD cases, characterised by an infantile onset and presence of additional extra ...
Angelini, Corrado, Antonini, Giovanni, Berardinelli, Angela, Brisca, Giacomo, Bruno, Claudio, Bucci, Elisabetta, Cao, Michelangelo, D'Amico, Maria Chiara, D'Angelo, Maria Grazia, Di Muzio, Antonio, Fiorillo, Chiara, Govi, Monica, Maggi, Lorenzo, Mele, Fabiano, Moggio, Maurizio, Mongini, Tiziana, Morandi, Lucia, Nikolic, Ana, Pegoraro, Elena, Ravaglia, Sabrina, Ricci, Giulia, Rodolico, Carmelo, Rossi, Marta, Ruggiero, Lucia, Santoro, Lucio, Sera, Francesco, Siciliano, Gabriele, Tomelleri, Giuliano, Tupler, Rossella, Vercelli, Liliana, Villa, Luisa   +30 more
core   +4 more sources