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1
Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline CDKN2A mutations
Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline CDKN2A mutations
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Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline CDKN2A mutations

Helgadottir, Hildur ; Ghiorzo, Paola ; van Doorn, Remco ; Puig, Susana ; Levin, Max ; Kefford, Richard ; Lauss, Martin ; Queirolo, Paola ; Pastorino, Lorenza ; Kapiteijn, Ellen ; Potrony, Miriam ; Carrera, Cristina ; Olsson, Håkan ; Höiom, Veronica ; Jönsson, Göran

Journal of medical genetics, 2020-05, Vol.57 (5), p.316-321 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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2
High risk of tobacco-related cancers in CDKN2A mutation-positive melanoma families
High risk of tobacco-related cancers in CDKN2A mutation-positive melanoma families
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High risk of tobacco-related cancers in CDKN2A mutation-positive melanoma families

Helgadottir, Hildur ; Höiom, Veronica ; Jönsson, Göran ; Tuominen, Rainer ; Ingvar, Christian ; Borg, Åke ; Olsson, Håkan ; Hansson, Johan

Journal of medical genetics, 2014-08, Vol.51 (8), p.545-552 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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3
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum
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Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum

Thorwarth, Anne ; Schnittert-Hübener, Sarah ; Schrumpf, Pamela ; Müller, Ines ; Jyrch, Sabine ; Dame, Christof ; Biebermann, Heike ; Kleinau, Gunnar ; Katchanov, Juri ; Schuelke, Markus ; Ebert, Grit ; Steininger, Anne ; Bönnemann, Carsten ; Brockmann, Knut ; Christen, Hans-Jürgen ; Crock, Patricia ; deZegher, Francis ; Griese, Matthias ; Hewitt, Jacqueline ; Ivarsson, Sten ; Hübner, Christoph ; Kapelari, Klaus ; Plecko, Barbara ; Rating, Dietz ; Stoeva, Iva ; Ropers, Hans-Hilger ; Grüters, Annette ; Ullmann, Reinhard ; Krude, Heiko

Journal of medical genetics, 2014-06, Vol.51 (6), p.375-387 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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4
BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk
BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk
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BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

Spurdle, Amanda B ; Whiley, Phillip J ; Thompson, Bryony ; Feng, Bingjian ; Healey, Sue ; Brown, Melissa A ; Pettigrew, Christopher ; Van Asperen, Christi J ; Ausems, Margreet G E M ; Kattentidt-Mouravieva, Anna A ; van den Ouweland, Ans M W ; Belgium UV Consortium, Dutch ; Lindblom, Annika ; Pigg, Maritta H ; Schmutzler, Rita K ; Engel, Christoph ; Meindl, Alfons ; Caputo, Sandrine ; Sinilnikova, Olga M ; Lidereau, Rosette ; Couch, Fergus J ; Guidugli, Lucia ; Hansen, Thomas van Overeem ; Thomassen, Mads ; Eccles, Diana M ; Tucker, Kathy ; Benitez, Javier ; Domchek, Susan M ; Toland, Amanda E ; Van Rensburg, Elizabeth J ; Wappenschmidt, Barbara ; Borg, Åke ; Vreeswijk, Maaike P G ; Goldgar, David E

Journal of medical genetics, 2012-08, Vol.49 (8), p.525-532 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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5
Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents
Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents
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Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents

Goldstein, Alisa M ; Chan, May ; Harland, Mark ; Hayward, Nicholas K ; Demenais, Florence ; Timothy Bishop, D ; Azizi, Esther ; Bergman, Wilma ; Bianchi-Scarra, Giovanna ; Bruno, William ; Calista, Donato ; Cannon Albright, Lisa A ; Chaudru, Valerie ; Chompret, Agnes ; Cuellar, Francisco ; Elder, David E ; Ghiorzo, Paola ; Gillanders, Elizabeth M ; Gruis, Nelleke A ; Hansson, Johan ; Hogg, David ; Holland, Elizabeth A ; Kanetsky, Peter A ; Kefford, Richard F ; Teresa Landi, Maria ; Lang, Julie ; Leachman, Sancy A ; MacKie, Rona M ; Magnusson, Veronica ; Mann, Graham J ; Newton Bishop, Julia ; Palmer, Jane M ; Puig, Susana ; Puig-Butille, Joan A ; Stark, Mitchell ; Tsao, Hensin ; Tucker, Margaret A ; Whitaker, Linda ; Yakobson, Emanuel

Journal of medical genetics, 2007-02, Vol.44 (2), p.99-106 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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6
CM-Score: a validated scoring system to predict CDKN2A germline mutations in melanoma families from Northern Europe
CM-Score: a validated scoring system to predict CDKN2A germline mutations in melanoma families from Northern Europe
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CM-Score: a validated scoring system to predict CDKN2A germline mutations in melanoma families from Northern Europe

Potjer, Thomas P ; Helgadottir, Hildur ; Leenheer, Mirjam ; van der Stoep, Nienke ; Gruis, Nelleke A ; Höiom, Veronica ; Olsson, Håkan ; van Doorn, Remco ; Vasen, Hans F A ; van Asperen, Christi J ; Dekkers, Olaf M ; Hes, Frederik J ; Wagner, A ; Der kolk, L Van ; Ausems, M ; Os, Th Van ; Leter, E M ; Spruijt, L ; Engelen, K Van ; Berger, L

Journal of medical genetics, 2018-10, Vol.55 (10), p.661-668 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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7
Germline E-cadherin mutations in familial lobular breast cancer
Germline E-cadherin mutations in familial lobular breast cancer
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Germline E-cadherin mutations in familial lobular breast cancer

Masciari, S ; Larsson, N ; Senz, J ; Boyd, N ; Kaurah, P ; Kandel, M J ; Harris, L N ; Pinheiro, H C ; Troussard, A ; Miron, P ; Tung, N ; Oliveira, C ; Collins, L ; Schnitt, S ; Garber, J E ; Huntsman, D

Journal of medical genetics, 2007-11, Vol.44 (11), p.726-731 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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8
Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies
Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies
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Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies

Antoniou, A C ; Pharoah, P D P ; Narod, S ; Risch, H A ; Eyfjord, J E ; Hopper, J L ; Olsson, H ; Johannsson, O ; Borg, Å ; Pasini, B ; Radice, P ; Manoukian, S ; Eccles, D M ; Tang, N ; Olah, E ; Anton-Culver, H ; Warner, E ; Lubinski, J ; Gronwald, J ; Gorski, B ; Tulinius, H ; Thorlacius, S ; Eerola, H ; Nevanlinna, H ; Syrjäkoski, K ; Kallioniemi, O-P ; Thompson, D ; Evans, C ; Peto, J ; Lalloo, F ; Evans, D G ; Easton, D F

Journal of medical genetics, 2005-07, Vol.42 (7), p.602-603 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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9
Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation
Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation
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Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation

Osoegawa, K ; Vessere, G M ; Utami, K H ; Mansilla, M A ; Johnson, M K ; Riley, B M ; L’Heureux, J ; Pfundt, R ; Staaf, J ; van der Vliet, W A ; Lidral, A C ; Schoenmakers, E F P M ; Borg, A ; Schutte, B C ; Lammer, E J ; Murray, J C ; de Jong, P J

Journal of medical genetics, 2008-02, Vol.45 (2), p.81-86 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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10
A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome
A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome
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A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome

Clendenning, M ; Senter, L ; Hampel, H ; Robinson, K Lagerstedt ; Sun, S ; Buchanan, D ; Walsh, M D ; Nilbert, M ; Green, J ; Potter, J ; Lindblom, A ; de la Chapelle, A

Journal of medical genetics, 2008-06, Vol.45 (6), p.340-345 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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