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1992, 1a ed., Edicions La Campana (Series), ISBN 9788486491642, Volume 51, 278
Book
by Rojnueangnit, Kitiwan and Xie, Jing and Gomes, Alicia and Sharp, Angela and Callens, Tom and Chen, Yunjia and Liu, Ying and Cochran, Meagan and Abbott, Mary‐Alice and Atkin, Joan and Babovic‐Vuksanovic, Dusica and Barnett, Christopher P and Crenshaw, Melissa and Bartholomew, Dennis W and Basel, Lina and Bellus, Gary and Ben‐Shachar, Shay and Bialer, Martin G and Bick, David and Blumberg, Bruce and Cortes, Fanny and David, Karen L and Destree, Anne and Duat‐Rodriguez, Anna and Earl, Dawn and Escobar, Luis and Eswara, Marthanda and Ezquieta, Begona and Frayling, Ian M and Frydman, Moshe and Gardner, Kathy and Gripp, Karen W and Hernández‐Chico, Concepcion and Heyrman, Kurt and Ibrahim, Jennifer and Janssens, Sandra and Keena, Beth A and Llano‐Rivas, Isabel and Leppig, Kathy and McDonald, Marie and Misra, Vinod K and Mulbury, Jennifer and Narayanan, Vinodh and Orenstein, Naama and Galvin‐Parton, Patricia and Pedro, Helio and Pivnick, Eniko K and Powell, Cynthia M and Randolph, Linda and Raskin, Salmo and Rosell, Jordi and Rubin, Karol and Seashore, Margretta and Schaaf, Christian P and Scheuerle, Angela and Schultz, Meredith and Schorry, Elizabeth and Schnur, Rhonda and Siqveland, Elizabeth and Tkachuk, Amanda and Tonsgard, James and Upadhyaya, Meena and Verma, Ishwar C and Wallace, Stephanie and Williams, Charles and Zackai, Elaine and Zonana, Jonathan and Lazaro, Conxi and Claes, Kathleen and Korf, Bruce and Martin, Yolanda and Legius, Eric and Messiaen, Ludwine
Human Mutation, ISSN 1059-7794, 11/2015, Volume 36, Issue 11, pp. 1052 - 1063
Journal Article
Pediatric Dermatology, ISSN 0736-8046, 05/2017, Volume 34, Issue 3, pp. 271 - 276
Background/Objectives Mosaic neurofibromatosis type 1 (MNF1) is a variant of neurofibromatosis type 1 (NF1) in which clinical manifestations are limited to one... 
GANGLIONEUROBLASTOMA | MUTATION | PEDIATRICS | SEGMENTAL NEUROFIBROMATOSIS | NF1 GENE | NEVUS ANEMICUS | DERMATOLOGY | Skin Diseases - etiology | Humans | Adolescent | Child, Preschool | Female | Male | Neurofibromatosis 1 - diagnosis | Retrospective Studies | Child | Spain | Health aspects | Neurofibromatosis | Epilepsy | Nevus | Malignancy | Children | Recklinghausen's disease | Lymphoma | Hodgkin's disease | Cancer
Journal Article
British Journal of Dermatology, ISSN 0007-0963, 10/2018, Volume 179, Issue 4, pp. e180 - e180
Summary This study from Spain concerns a group of genetic conditions called ichthyosis in which the skin is abnormally scaly. The particular type studied here... 
Medical records | Nervous system diseases | Epilepsy | Attention-deficit hyperactivity disorder | Attention deficit disorder | Neurological diseases | Autism | Hyperactivity | Attention deficit hyperactivity disorder | Surgery | Skin | Testes | Methylphenidate | Ichthyosis
Journal Article
Revista de Neurologia, ISSN 0210-0010, 05/2017, Volume 64, pp. S13 - S17
Journal Article
GUT AND LIVER, ISSN 1976-2283, 09/2019, Volume 13, Issue 5, pp. 483 - 497
Antibiotic resistance is the most important factor leading to the failure of eradication regimens. This review focuses on the prevalence of Helicobacter pylori... 
Clarithromycin | CONSENSUS | PREVALENCE | Helicobacter pylori | GASTRIC-CANCER | LEVOFLOXACIN RESISTANCE | Amoxicillin | Bismuth | TRIPLE THERAPY | ERADICATION | Metronidazole | GASTROENTEROLOGY & HEPATOLOGY | EPIDEMIOLOGY | 내과학
Journal Article
by Xiol, C and Vidal, S and Pascual-Alonso, A and Blasco, L and Brandi, N and Pacheco, P and Gerotina, E and O'Callaghan, M and Pineda, M and Armstrong, J and Aguirre, FJ and Aleu, M and Alonso, X and Alsius, M and Amoros, M and Antinolo, G and Aquino, L and Arellano, C and Arriola, G and Arteaga, R and Baena, N and Barcos, M and Belzunces, N and Boronat, S and Camacho, T and Campistol, J and del Campo, M and Campo, A and Cancho, R and Candau, R and Canos, I and Carrascosa, MD and Carratala-Marco, F and Casano, J and Castro, P and Cobo, A and Colomer, J and Conejo, D and Corrales, MJ and Cortes, R and Cruz, G and Csanyi, G and de Santos, MT and de Toledo, M and Del Campo, M and Del Toro, M and Domingo, R and Duat, A and Duque, R and Esparza, AM and Fernandez, R and Fons, MC and Fontalba, A and Galan, E and Gallano, P and Gamundi, MJ and Garcia, PL and Garcia, MD and Garcia-Barcina, M and Garcia-Catalan, MJ and Garcia-Cazorla, A and Garcia-Minaur, S and Garcia-Penas, JJ and Garcia-Silva, MT and Gassio, R and Gean, E and Gil, B and Gokben, S and Gonzalez, L and Gonzalez, V and Gonzalez, J and Gonzalez, G and Guillen, E and Guitart, M and Guitet, M and Gutierrez, JM and Gutierrez, E and Herranz, JL and Iglesias, G and Karacic, I and Lahoz, CH and Lao, JI and Lapunzina, P and Lautre-Ecenarro, MJ and Lluch, MD and Lopez, L and Lopez-Ariztegui, A and Macaya, A and Marin, R and Marquez, CML and Martin, E and Martinez, B and Martinez-Salcedo, E and Mas, MJ and Mateo, G and Mendez, P and Jimenez, AM and Moreno, S and Mulas, F and Narbona, J and ... and Rett Working Grp and Rett Working Group
SCIENTIFIC REPORTS, ISSN 2045-2322, 08/2019, Volume 9, Issue 1, pp. 11983 - 9
Rett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the MECP2 gene. Since the MECP2 gene is located on the X chromosome, X... 
MECP2 MUTATIONS | PATTERNS | METHYLATION | GENE | MULTIDISCIPLINARY SCIENCES | BRAIN | Phenotypes | Transcription | Phenotypic variations | Blood | Neurological diseases | Methyl-CpG binding protein | MeCP2 protein | X Chromosomes | Rett syndrome | Alleles | Mutation | Methylation | Chromosomes
Journal Article
REVISTA DE NEUROLOGIA, ISSN 0210-0010, 2017, Volume 64, Issue s03, pp. S13 - S17
Journal Article
Actas Dermo-Sifiliograficas, ISSN 0001-7310, 07/2016, Volume 107, Issue 6, pp. 454 - 464
Neurofibromatosis type 1 (NF1) is the most common neurocutaneous syndrome and probably the one best known to dermatologists. Although the genetic locus of NF1... 
Ephelids | Freckling | Albinism | Neurofibromin | Cafe-au-lait spots | Legius syndrome | Neurofibromatosis type 1 | RASopathies | LEOPARD syndrome | Neurofibroma
Journal Article
Actas Dermo-Sifiliograficas, ISSN 0001-7310, 11/2015, Volume 107, Issue 6, pp. 465 - 473
Neurofibromatosis type 1 (NF1) is the most common neurocutaneous syndrome and probably the one best known to dermatologists. Although the genetic locus of NF1... 
Nevus anemicus | Genetic counseling | Glioma | Glomus tumor | Malignant peripheral nerve sheath tumor | Melanoma | Juvenile xanthogranuloma | Neurofibromatosis type 1
Journal Article
Actas Dermo-Sifiliograficas, ISSN 0001-7310, 09/2015, Volume 107, Issue 6, pp. 454 - 464
Neurofibromatosis type 1 (NF1) is the most common neurocutaneous syndrome and probably the one best known to dermatologists, who are generally the first... 
Ephelids | Freckling | Albinism | Neurofibromin | Cafe-au-lait spots | Legius syndrome | Neurofibromatosis type 1 | RASopathies | LEOPARD syndrome | Neurofibroma
Journal Article
18.