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by Hu, H and Haas, S.A and Chelly, J and Esch, H. Van and Raynaud, M and Brouwer, A.P. de and Weinert, S and Froyen, G and Frints, S.G and Laumonnier, F and Zemojtel, T and Love, M.I and Richard, H and Emde, A.K and Bienek, M and Jensen, C and Hambrock, M and Fischer, U and Langnick, C and Feldkamp, M and Wissink-Lindhout, W and Lebrun, N and Castelnau, L and Rucci, J and Montjean, R and Dorseuil, O and Billuart, P and Stuhlmann, T and Shaw, M and Corbett, M.A and Gardner, A and Willis-Owen, S and Tan, C and Friend, K.L and Belet, S and Roozendaal, K.E. van and Jimenez-Pocquet, M and Moizard, M.P and Ronce, N and Sun, R and O'Keeffe, S and Chenna, R and Bommel, A. van and Goke, J and Hackett, A and Field, M and Christie, L and Boyle, J and Haan, E and Nelson, J and Turner, G and Baynam, G and Gillessen-Kaesbach, G and Muller, U and Steinberger, D and Budny, B and Badura-Stronka, M and Latos-Bielenska, A and Ousager, L.B and Wieacker, P and Roiguez Criado, G and Bondeson, M.L and Anneren, G and Dufke, A and Cohen, M and Maldergem, L. Van and Vincent-Delorme, C and Echenne, B and Simon-Bouy, B and Kleefstra, T and Willemsen, M.H and Fryns, J.P and Devriendt, K and Ullmann, R and Vingron, M and Wrogemann, K and Wienker, T.F and Tzschach, A and Bokhoven, H. van and Gecz, J and Jentsch, T.J and Chen, W and Ropers, H.H and Kalscheuer, V.M and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för immunologi, genetik och patologi and Uppsala universitet and Medicinsk genetik och genomik
Molecular Psychiatry, ISSN 1359-4184, 2016, Volume 21, Issue 1, pp. 133 - 148
X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID... 
LYSOSOMAL STORAGE DISEASE | HOMEODOMAIN TRANSCRIPTION FACTORS | PSYCHIATRY | BIOCHEMISTRY & MOLECULAR BIOLOGY | SPINE MORPHOGENESIS | AUTISM SPECTRUM DISORDERS | RIBOSOME BIOGENESIS | NEUROSCIENCES | LINKED MENTAL-RETARDATION | DE-NOVO MUTATIONS | NEURITE OUTGROWTH | MARTIN-PROBST SYNDROME | CHLORIDE CHANNEL | Neurons - pathology | Humans | Histone Acetyltransferases - genetics | Male | Chloride Channels - genetics | RNA, Messenger - metabolism | Genetic Variation | Transcription Factor TFIID - genetics | Mental Retardation, X-Linked - genetics | Adult | Neurons - metabolism | Cyclin-Dependent Kinases - genetics | Nuclear Proteins - genetics | Intracellular Signaling Peptides and Proteins - genetics | Microfilament Proteins - genetics | Cells, Cultured | TATA-Binding Protein Associated Factors - genetics | Mice, Knockout | Chloride Channels - metabolism | Animals | Adaptor Proteins, Signal Transducing - genetics | Adolescent | High-Throughput Nucleotide Sequencing | Ubiquitin-Protein Ligases - genetics | Cohort Studies | Complications and side effects | Usage | Care and treatment | Genetic aspects | Nucleotide sequencing | Mental retardation | DNA sequencing | Original | Basic Medicine | Neurosciences | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinsk bioteknologi | Klinisk medicin | Medical Biotechnology (with a focus on Cell Biology (including Stem Cell Biology), Molecular Biology, Microbiology, Biochemistry or Biopharmacy) | Medicinsk bioteknologi (med inriktning mot cellbiologi (inklusive stamcellsbiologi), molekylärbiologi, mikrobiologi, biokemi eller biofarmaci) | Medical Biotechnology | Clinical Medicine | Medicinska och farmaceutiska grundvetenskaper | Psykiatri | Psychiatry | Neurovetenskaper
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2005, Volume 77, Issue 6, pp. 945 - 957
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2012, Volume 20, Issue 10, pp. 1024 - 1031
We present six patients from five unrelated families with a condition originally described by Van Maldergem et al and provide follow-up studies of the original... 
blepharo-naso-facial malformation | choanal atresia | camptodactyly | autosomal recessive | migration abnormalities | bilateral periventricular nodular heterotopia | PACHYGYRIA | BIOCHEMISTRY & MOLECULAR BIOLOGY | MALFORMATIONS | PERIVENTRICULAR HETEROTOPIA | GENETICS & HEREDITY | FACIAL ABNORMALITIES | JOINT CONTRACTURES | MUTATIONS | Abnormalities, Multiple - pathology | Malformations of Cortical Development, Group II - pathology | Humans | Joint Instability - genetics | Child, Preschool | Joint Instability - pathology | Foot Deformities, Congenital - genetics | Male | Hand Deformities, Congenital - diagnosis | Intellectual Disability - genetics | Craniofacial Abnormalities - pathology | Female | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Foot Deformities, Congenital - pathology | Diagnosis, Differential | Joint Instability - diagnosis | Intellectual Disability - pathology | Malformations of Cortical Development, Group II - diagnosis | Foot Deformities, Congenital - diagnosis | Malformations of Cortical Development, Group II - genetics | Genes, Recessive | Craniofacial Abnormalities - diagnosis | Hand Deformities, Congenital - genetics | Pedigree | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Consanguinity | Hand Deformities, Congenital - pathology | Karyotype | Hypoplasia | Neonates | Phenotypes | Leukocyte migration | Intellectual disabilities | Childrens health | Heredity | Blepharophimosis | Patients | Maxilla | Feeding | Genotype & phenotype | Parents & parenting | Ostomy | Hospitals | Genetics | Mutation | Microtia | Cell migration | Mental retardation | Siblings
Journal Article
Nature Genetics, ISSN 1061-4036, 2008, Volume 40, Issue 1, pp. 32 - 34
We identified loss-of-function mutations in ATP6V0A2, encoding the a2 subunit of the V-type H+ ATPase, in several families with autosomal recessive cutis laxa... 
V-ATPASE | COMPLEX-FORMATION | DEFECTS | PATHWAY | GENETICS & HEREDITY | DEFICIENCY REVEALS | CONGENITAL DISORDER | Cutis Laxa - metabolism | Golgi Apparatus | Proton-Translocating ATPases - genetics | Humans | Female | Infant | Male | Cutis Laxa - genetics | Glycosylation | Proteins | Genetics | Skin diseases | Biochemistry | Mutation
Journal Article
Human Mutation, ISSN 1059-7794, 2012, Volume 33, Issue 1, pp. 64 - 72
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 07/2013, Volume 36, Issue 4, pp. 613 - 619
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 2016, Volume 170, Issue 11, pp. 2847 - 2859
Journal Article
Human Genetics, ISSN 0340-6717, 2012, Volume 131, Issue 11, pp. 1761 - 1773
Autosomal recessive cutis laxa (ARCL) syndromes are phenotypically overlapping, but genetically heterogeneous disorders. Mutations in the ATP6V0A2 gene were... 
Gene Function | Human Genetics | Molecular Medicine | Biomedicine | Metabolic Diseases | VACUOLAR (H+)-ATPASES | CELLS | GENE | DISEASE | GENETICS & HEREDITY | MISSENSE MUTATION | H+-ATPASE | PROTEIN GLYCOSYLATION | BRAIN DYSGENESIS | ALTERED GLYCOSYLATION | DEBRE TYPE | Skin - metabolism | Golgi Apparatus - drug effects | Humans | Transforming Growth Factor beta1 - metabolism | Child, Preschool | Brefeldin A - pharmacology | Infant | Male | Protein Transport - drug effects | Glycosylation - drug effects | Young Adult | Proton-Translocating ATPases - genetics | Adult | Protein Synthesis Inhibitors - pharmacology | Real-Time Polymerase Chain Reaction | Skin - pathology | Fibroblasts - metabolism | Cutis Laxa - metabolism | Cutis Laxa - congenital | Enzyme-Linked Immunosorbent Assay | RNA, Messenger - genetics | Cells, Cultured | Cutis Laxa - genetics | Fibroblasts - pathology | Mutation - genetics | Reverse Transcriptase Polymerase Chain Reaction | Blotting, Western | Fibroblasts - drug effects | Adolescent | Fluorescent Antibody Technique | Golgi Apparatus - metabolism | Cutis Laxa - pathology | Skin - drug effects | Apoptosis | Pregnant women | Genes | Skin | Children | Universities and colleges | Transforming growth factors | Health aspects | Cells | Adenosine triphosphatase | Bone morphogenetic proteins | Chemical properties | Indexing in process
Journal Article
Nature Genetics, ISSN 1061-4036, 11/2013, Volume 45, Issue 11, pp. 1300 - 1310
Journal Article