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Journal of Investigative Dermatology, ISSN 0022-202X, 09/2013, Volume 133, Issue 9, pp. 2229 - 2236
Congenital melanocytic nevi (CMN) can be associated with neurological abnormalities and an increased risk of melanoma. Mutations in , , and have been described... 
MC1R | VARIANTS | RAS | BRAF MUTATIONS | HIGH-FREQUENCY | PHENOTYPE | NEUROLOGICALLY ASYMPTOMATIC CHILDREN | ASSOCIATION | REGISTRY | MOSAICISM | DERMATOLOGY | Meningeal Neoplasms - epidemiology | Prevalence | Nevus, Pigmented - epidemiology | Humans | Child, Preschool | Male | Neurocutaneous Syndromes - congenital | Meningioma - genetics | Mutation, Missense - genetics | Loss of Heterozygosity - genetics | Hamartoma - pathology | Young Adult | Hamartoma - genetics | Nevus, Pigmented - genetics | Meningioma - epidemiology | Zygote | Female | Genetic Predisposition to Disease - epidemiology | Neurocutaneous Syndromes - epidemiology | Child | Melanosis - epidemiology | Melanosis - genetics | Neurocutaneous Syndromes - genetics | Genetic Predisposition to Disease - genetics | Meningeal Neoplasms - genetics | Membrane Proteins - genetics | Central Nervous System Neoplasms - genetics | Risk Factors | Hamartoma - epidemiology | Central Nervous System Neoplasms - epidemiology | Melanosis - congenital | Skin Neoplasms - epidemiology | Nevus, Pigmented - congenital | Magnetic Resonance Imaging | Meningioma - pathology | Central Nervous System Neoplasms - pathology | GTP Phosphohydrolases - genetics | Skin Neoplasms - congenital | Skin Neoplasms - genetics | Adolescent | Mosaicism | Meningeal Neoplasms - pathology | Index Medicus | Original
Journal Article
by Meyer, E and Carss, K.J and Rankin, J and Nichols, J.M and Grozeva, D and Joseph, A.P and Mencacci, N.E and Papaneou, A and Ng, J and Barral, S and Ngoh, A and Ben-Pazi, H and Willemsen, M.A and Arkadir, D and Barnicoat, A and Bergman, H and Bhate, S and Boys, A and Darin, N and Foulds, N and Gutowski, N and Hills, A and Houlden, H and Hurst, J.A and Israel, Z and Kaminska, M and Limousin, P and Lumsden, D and McKee, S and Misra, S and Mohammed, S.S and Nakou, V and Nicolai, J and Nilsson, M and Pall, H and Peall, K.J and Peters, G.B and Prabhakar, P and Reuter, M.S and Rump, P and Segel, R and Sinnema, M and Smith, M and Turnpenny, P and White, S.M and Wieczorek, D and Wiethoff, S and Wilson, B.T and Winter, G and Wragg, C and Pope, S and Heales, S.J and Morrogh, D and Pittman, A and Carr, L.J and Perez-Duenas, B and Lin, J.P and Reis, A and Gahl, W.A and Toro, C and Bhatia, K.P and Wood, N.W and Kamsteeg, E.J and Chong, W.K and Gissen, P and Topf, M and Dale, R.C and Chubb, J.R and Raymond, F.L and Kurian, M.A and NIHR BioResource Rare and Deciphering Dev Disorders Study and UK10K Consortium and Deciphering Developmental Disorders Study and NIHR BioResource Rare Diseases Consortium and Sahlgrenska akademin and Institute of Clinical Sciences, Section for the Health of Women and Children, Department of Pediatrics and Göteborgs universitet and Gothenburg University and Institutionen för kliniska vetenskaper, sektionen för kvinnors och barns hälsa, Avdelningen för pediatrik and Sahlgrenska Academy
Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 2, pp. 223 - 237
Journal Article
Cell Reports, ISSN 2211-1247, 06/2019, Volume 27, Issue 10, pp. 2837 - 2846.e4
Cancer-related inflammation impacts significantly on cancer development and progression. From early stages, neutrophils and macrophages are drawn to... 
cell motility | macrophages | inflammation | collagen | cancer | basement membrane zone | zebrafish | neutrophils | CLEM
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2014, Volume 95, Issue 5, pp. 611 - 621
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 01/2016, Volume 25, Issue 1, pp. 66 - 72
Journal Article
by Coppola, Antonietta and Cellini, Elena and Stamberger, Hannah and Saarentaus, Elmo and Cetica, Valentina and Lal, Dennis and Djémié, Tania and Bartnik‐Glaska, Magdalena and Ceulemans, Berten and Helen Cross, J and Deconinck, Tine and Masi, Salvatore De and Dorn, Thomas and Guerrini, Renzo and Hoffman‐Zacharska, Dorotha and Kooy, Frank and Lagae, Lieven and Lench, Nicholas and Lemke, Johannes R and Lucenteforte, Ersilia and Madia, Francesca and Mefford, Heather C and Morrogh, Deborah and Nuernberg, Peter and Palotie, Aarno and Schoonjans, An‐Sofie and Striano, Pasquale and Szczepanik, Elzbieta and Tostevin, Anna and Vermeesch, Joris R and Van Esch, Hilde and Van Paesschen, Wim and Waters, Jonathan J and Weckhuysen, Sarah and Zara, Federico and Jonghe, Peter De and Sisodiya, Sanjay M and Marini, Carla and Lehesjioki, Anna‐Elina and Craiu, Dana and Talvik, Tiina and Caglayan, Hande and Serratosa, Jose and Sterbova, Katalin and Møller, Rikke S and Hjalgrim, Helle and Lerche, Holger and Weber, Yvonne and Helbig, Ingo and Spiczak, Sarah and Barba, Carmen and Bogaerts, Anneleen and Boni, Antonella and Galizia, Elisabeth Caruana and Chiari, Sara and Gacomo, Gianpiero and Ferrari, Annarita and Guarducci, Silvia and Giglio, Sabrina and Holmgren, Philip and Leu, Costin and Melani, Federico and Novara, Francesca and Pantaleo, Marilena and Peeters, Elke and Pisano, Tiziana and Rosati, Anna and Sander, Josemir and Schoeler, Natasha and Stankiewicz, Pawel and Striano, Salvatore and Suls, Arvid and Traverso, Monica and Vandeweyer, Geert and Dijck, Anke and Zuffardi, Orsetta and EpiCNV Consortium and EuroEPINOMICS-RES Consortium and EuroEPINOMICS‐RES Consortium
Epilepsia, ISSN 0013-9580, 04/2019, Volume 60, Issue 4, pp. 689 - 706
Journal Article
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, ISSN 1552-4841, 06/2018, Volume 177, Issue 4, pp. 397 - 405
Journal Article
BLOOD, ISSN 0006-4971, 06/2019, Volume 133, Issue 24, pp. 2586 - 2596
DiGeorge syndrome (DGS) is a primary immunodeficiency characterized by various degrees of T-cell deficiency. In partial DGS (pDGS), other risk factors could... 
V-BETA REPERTOIRE | AUTOIMMUNITY | SELECTIVE IGM DEFICIENCY | ABSENCE | 22Q11.2 DELETION SYNDROME | B-LYMPHOCYTE SUBPOPULATIONS | HEMATOLOGY | ANTIBODY DEFICIENCY | IMMUNODEFICIENCY | REFERENCE VALUES | CHILDREN
Journal Article