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Developmental Biology, ISSN 0012-1606, 07/2009, Volume 331, Issue 2, pp. 473 - 474
Journal Article
Neuron, ISSN 0896-6273, 2008, Volume 60, Issue 6, pp. 1039 - 1053
Journal Article
Nature, ISSN 0028-0836, 04/2010, Volume 464, Issue 7291, pp. 1043 - 1047
Hereditary hypotrichosis simplex is a rare autosomal dominant form of hair loss characterized by hair follicle miniaturization(1,2). Using genetic linkage... 
AUTOSOMAL DOMINANT INHERITANCE | IN-VITRO | ANDROGENETIC ALOPECIA | XENOPUS | PROTEIN-COUPLED RECEPTOR | MULTIDISCIPLINARY SCIENCES | NEURAL-TUBE | DEPENDENT MANNER | EXPRESSION | HAIR-FOLLICLE | SPEMANN ORGANIZER | Cell Proliferation | Membrane Glycoproteins - metabolism | Xenopus Proteins - genetics | Humans | Membrane Glycoproteins - chemistry | Hypotrichosis - genetics | Hair - metabolism | Neurons - cytology | Stem Cells - cytology | Stem Cells - metabolism | Wnt Proteins - metabolism | Hair Follicle - pathology | Point Mutation - genetics | Wnt Proteins - genetics | Cell Differentiation | Neurons - metabolism | Xenopus laevis - genetics | Hypotrichosis - metabolism | Spinal Cord - cytology | Cell Line | Xenopus laevis - embryology | Signal Transduction | Mutant Proteins - genetics | Intracellular Signaling Peptides and Proteins | Genes, Reporter - genetics | Mutant Proteins - metabolism | Chromosome Mapping | Chick Embryo | beta Catenin - metabolism | Membrane Glycoproteins - genetics | Membrane Proteins | Animals | Xenopus Proteins - deficiency | Scalp | Xenopus laevis - metabolism | Hair Follicle - metabolism | Hair Follicle - growth & development | Xenopus Proteins - metabolism | Mice | Skin | Chromosomes, Human, Pair 18 - genetics | Hypotrichosis - pathology | Wnt Proteins - antagonists & inhibitors | Genes, Dominant - genetics | Hair - growth & development | Membrane Glycoproteins - deficiency | Embryonic development | Alopecia | Baldness | Gene mutations | Analysis | Physiological aspects | Genetic aspects | Research | Wnt proteins | Risk factors | Mutation | Hair loss | Genes | Human | Hair | Mutations | Membranes | Inhibitors | Activation | Signalling | hair follicle | APCDD1 | hereditary hypotrichosis | Wnt inhibitor
Journal Article
Journal Article
BMC Neuroscience, ISSN 1471-2202, 12/2011, Volume 12, Issue S1, pp. O11 - O11
Journal Article
Frontiers in Pharmacology, ISSN 1663-9812, 08/2018, Volume 9, p. 862
Journal Article
by O’Donnell-Luria, Anne H and Pais, Lynn S and Faundes, Víctor and Wood, Jordan C and Sveden, Abigail and Luria, Victor and Abou Jamra, Rami and Accogli, Andrea and Amburgey, Kimberly and Anderlid, Britt Marie and Azzarello-Burri, Silvia and Basinger, Alice A and Bianchini, Claudia and Bird, Lynne M and Buchert, Rebecca and Carre, Wilfrid and Ceulemans, Sophia and Charles, Perrine and Cox, Helen and Culliton, Lisa and Currò, Aurora and McRae, Jeremy F and Clayton, Stephen and Fitzgerald, Tomas W and Kaplanis, Joanna and Prigmore, Elena and Rajan, Diana and Sifrim, Alejandro and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Ambridge, Kirsty and Barrett, Daniel M and Barrett, Jeffrey C and Bayzetinova, Tanya and Jones, Elizabeth and Jones, Philip and Jones, Wendy D and King, Daniel and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Tivey, Adrian R and Ahmed, Munaza and Anjum, Uruj and Archer, Hayley and Armstrong, Ruth and Awada, Jana and Balasubramanian, Meena and Banka, Siddharth and Baralle, Diana and Barnicoat, Angela and Batstone, Paul and Baty, David and Bennett, Chris and Berg, Jonathan and Bernhard, Birgitta and Bevan, A. Paul and Bitner-Glindzicz, Maria and Blair, Edward and Blyth, Moira and Bohanna, David and Bourdon, Louise and Bourn, David and Bradley, Lisa and Brady, Angela and Brent, Simon and Brewer, Carole and Brunstrom, Kate and Bunyan, David J and Burn, John and Canham, Natalie and Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Clowes, Virginia and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collinson, Morag N and Connell, Fiona and Cooper, Nicola and Cresswell, Lara and Cross, Gareth and Crow, Yanick and D’Alessandro, Mariella and Dabir, Tabib and Davidson, Rosemarie and Davies, Sally and de Vries, Dylan and Dean, John and Deshpande, Charu and Devlin, Gemma and Dixit, Abhijit and Dobbie, Angus and ... and Deciphering Developmental Disorders (DDD) Study
The American Journal of Human Genetics, ISSN 0002-9297, 06/2019, Volume 104, Issue 6, pp. 1210 - 1222
We delineate a -related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in (28... 
KMT2E | epilepsy | H3K4 methylation | global developmental delay | neurodevelopmental disorder | intellectual disability | epileptic encephalopathy | autism | Genetic variation | Epilepsy | Nervous system | Genetic aspects | Degeneration | Research | Risk factors
Journal Article
Neuropharmacology, ISSN 0028-3908, 12/2018, Volume 143, pp. 176 - 185
Journal Article
by Pisters, Ron and Lane, Deirdre A and Nieuwlaat, Robby and De Vos, Cees B and Crijns, Harry J. G. M and Lip, Gregory Y. H and Andresen, Dieter and Camm, A. John and Davies, Wynn and Capucci, Alessandro and Le´vy, Samuel and Olsson, Bertil and Aliot, Etienne and Breithardt, Gu¨nter and Cobbe, Stuart and Le Heuzey, Jean-Yves and Santini, Massimo and Vardas, Panos and Manini, Malika and Bramley, Claire and Laforest, Vale´rie and Taylor, Charles and Del Gaiso, Susan and Huber, Kurt and De Backer, Guy and Sirakova, Vera and Cerbak, Roman and Thayssen, Per and Lehto, Seppo and Blanc, Jean-Jacques and Delahaye, Franc¸ois and Kobulia, Bondo and Zeymer, Uwe and Cokkinos, Dennis and Karlocai, Kristof and Graham, Ian and Shelley, Emer and Behar, Shlomo and Maggioni, Aldo and Gonc¸alves, Lino and Grabauskiene, Virginija and Asmussen, Inger and Deckers, Jaap and Stepinska, Janina and Mareev, Vyacheslav and Vasiljevic, Zorana and Riecansky, Igor and Kenda, Miran F and Alonso, Angeles and Lopez-Sendon, Jose´ Luis and Rosengren, Annika and Buser, Peter and Okay, Tugrul and Sychov, Oleg and Fox, Kevin and Schofield, Peter and Simoons, Maarten and Wood, David and Battler, Alex and Boersma, Eric and Fox, Kim and Komajda, Michel and McGregor, Keith and Mulder, Barbara and Priori, Sylvia and Ryde´n, Lars and Vahanian, Alec and Wijns, William and Sanofi-Aventis, Sanofi-Aventis and Grigoryan, S.V and Apetyan, I and Aroyan, S and Azarapetyan, L and Anvari, Anahit and Gottsauner-Wolf, Michael and Pfaffenberger, Stefan and Aydinkoc, Kadriye and Kalla, Karim and Penka, Martina and Drexel, Heinz and Langer, Peter and Pierard, Luc A and Legrand, Victor and Blommaert, Dominique and Schroeder, E and Mancini, Isabelle and Geelen, P and Brugada, P and De Zutter, Marc and Vrints, Christiaan and Vercammen, Marc and Morissens, Marielle and Borisov, Boyanov and Petrov, Valentin Asenov and Marinova, Maria and Assen, Alexandrova and Goudev, Rachev and Peychev, Yavor and Stoyanovsky, Vassil and Stoynev, Evgeni and ...
Chest, ISSN 0012-3692, 11/2010, Volume 138, Issue 5, pp. 1093 - 1100
Journal Article
Journal Article