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1. Full Text De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome
by Jones, Wendy D and Dafou, Dimitra and McEntagart, Meriel and Woollard, Wesley J and Elmslie, Frances V and Holder-Espinasse, Muriel and Irving, Melita and Saggar, Anand K and Smithson, Sarah and Trembath, Richard C and Deshpande, Charu and Simpson, Michael A
American journal of human genetics, ISSN 0002-9297, 08/2012, Volume 91, Issue 2, pp. 358 - 364
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Medical genetics | Abnormalities, Multiple - pathology | Haploinsufficiency - genetics | Hypertrichosis - congenital | Growth Disorders - pathology | Histone-Lysine N-Methyltransferase | Humans | Molecular Sequence Data | Mutation - genetics | Sequence Analysis, DNA | Exome - genetics | Hypertrichosis - genetics | Myeloid-Lymphoid Leukemia Protein - genetics | Base Sequence | Hypertrichosis - pathology | Gene Components | Growth Disorders - genetics | Abnormalities, Multiple - genetics | Body hair | Gene mutations | Growth | Proteus syndrome | Histones | Hypertrichosis | Causes of | Genetic aspects | Research | Diagnosis | Health aspects | Proteins | Genotype & phenotype | Genetic disorders | Mutation | Mental disorders | Index Medicus | Hair | Enzymes | Body height | MLL protein | histone methyltransferase | Transcription | Catalysis | Methylation | Elbow | Mental retardation | Report
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2. Full Text SCN9A Mutations in Paroxysmal Extreme Pain Disorder: Allelic Variants Underlie Distinct Channel Defects and Phenotypes
by Fertleman, Caroline R and Baker, Mark D and Parker, Keith A and Moffatt, Sarah and Elmslie, Frances V and Abrahamsen, Bjarke and Ostman, Johan and Klugbauer, Norbert and Wood, John N and Gardiner, R. Mark and Rees, Michele
Neuron (Cambridge, Mass.), ISSN 0896-6273, 2006, Volume 52, Issue 5, pp. 767 - 774
HUMDISEASE | MOLNEURO | SIGNALING | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neuralgia - genetics | Genetic Linkage - physiology | Humans | Analgesics, Non-Narcotic - pharmacology | NAV1.7 Voltage-Gated Sodium Channel | Electrophysiology | Molecular Sequence Data | Sodium Channels - physiology | Genetic Variation | Mutation - physiology | Transfection | DNA Mutational Analysis | Cloning, Molecular | Neuralgia - physiopathology | Amino Acid Sequence | Carbamazepine - pharmacology | Cell Line | Genotype | Chromosome Mapping | Sodium Channels - drug effects | Patch-Clamp Techniques | Phenotype | Pedigree | Alleles | Sodium Channels - genetics | Sodium Channel Blockers | Neurons | Analysis | Genomics | Gastrointestinal diseases | Genetic research | Genetic aspects | Somatoform disorders | Carbamazepine | Musculoskeletal system | Genomes | Pain | Mutation | Mutagenesis | Deoxyribonucleic acid--DNA | Index Medicus
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3. Full Text Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum
by Crow, Yanick J and Marshall, Heather and Rice, Gillian I and Seabra, Luis and Jenkinson, Emma M and Baranano, Kristin and Battini, Roberta and Berger, Andrea and Blair, Edward and Blauwblomme, Thomas and Bolduc, Francois and Boddaert, Natalie and Buckard, Johannes and Burnett, Heather and Calvert, Sophie and Caumes, Roseline and Ng, Andy Cheuk‐Him and Chiang, Diana and Clifford, David B and Cordelli, Duccio M and Burca, Anna and Demic, Natasha and Desguerre, Isabelle and De Waele, Liesbeth and Di Fonzo, Alessio and Dunham, S. Richard and Dyack, Sarah and Elmslie, Frances and Ferrand, Mickaël and Fisher, Gemma and Karimiani, Ehsan Ghayoor and Ghoumid, Jamal and Gibbon, Frances and Goel, Himanshu and Hilmarsen, Hilde T and Hughes, Imelda and Jacob, Anu and Jones, Elizabeth A and Kumar, Ram and Leventer, Richard J and MacDonald, Shelley and Maroofian, Reza and Mehta, Sarju G and Metz, Imke and Monfrini, Edoardo and Neumann, Daniela and Noetzel, Michael and O'Driscoll, Mary and Õunap, Katrin and Panzer, Axel and Parikh, Sumit and Prabhakar, Prab and Ramond, Francis and Sandford, Richard and Saneto, Russell and Soh, Calvin and Stutterd, Chloe A and Subramanian, Gopinath M and Talbot, Kevin and Thomas, Rhys H and Toro, Camilo and Touraine, Renaud and Wakeling, Emma and Wassmer, Evangeline and Whitney, Andrea and Livingston, John H and O'Keefe, Raymond T and Badrock, Andrew P
American journal of medical genetics. Part A, ISSN 1552-4825, 01/2021, Volume 185, Issue 1, pp. 15 - 25
leukoencephalopathy with calcifications and cysts | ribosomopathy | Labrune syndrome | coats plus | SNORD118 | C/D box snoRNA U8 | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic research | Cysts | Leukoencephalopathy | Analysis | Genetic polymorphisms | Nucleoli | Phenotypes | Heterozygotes | Consanguinity | Nucleotides | Mutation | Gene polymorphism | Age | snoRNA | Index Medicus
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4. Full Text Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss
by Simpson, Michael A and Irving, Melita D and Asilmaz, Esra and Gray, Mary J and Dafou, Dimitra and Elmslie, Frances V and Mansour, Sahar and Holder, Sue E and Brain, Caroline E and Burton, Barbara K and Kim, Katherine H and Pauli, Richard M and Aftimos, Salim and Stewart, Helen and Kim, Chong Ae and Holder-Espinasse, Muriel and Robertson, Stephen P and Drake, William M and Trembath, Richard C
Nature genetics, ISSN 1061-4036, 2011, Volume 43, Issue 4, pp. 303 - 305
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Osteoporosis. Osteomalacia. Paget disease | Complex syndromes | Diseases of the osteoarticular system | Medical genetics | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Exons | Humans | DNA, Complementary - genetics | Mutant Proteins - genetics | Receptor, Notch2 - metabolism | Male | Mutant Proteins - metabolism | Receptor, Notch2 - genetics | Hajdu-Cheney Syndrome - metabolism | Hajdu-Cheney Syndrome - genetics | Hajdu-Cheney Syndrome - pathology | Protein Sorting Signals - genetics | DNA Mutational Analysis | Pedigree | Base Sequence | Alleles | Female | Mutation | Osteoporosis | Somatotropin | Care and treatment | Gene mutations | Physiological aspects | Genetic aspects | Research | Osteolysis | Health aspects | Risk factors | Studies | Medical research | Bone density | Genes | Index Medicus
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5. Full Text Leukoencephalopathy, Intracranial Calcifications, Cysts, and SNORD118 Mutation (Labrune Syndrome) with Obstructive Hydrocephalus
by Shtaya, Anan and Elmslie, Frances and Crow, Yanick and Hettige, Samantha
World neurosurgery, ISSN 1878-8750, 05/2019, Volume 125, pp. 271 - 272
Calcification | Labrune syndrome | SNORD118 | Cysts | Hydrocephalus | Leukoencephalopathy | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Surgery | Science & Technology | Index Medicus
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6. Full Text Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome
by Koolen, D.A and Kramer, J.M and Neveling, K and Nillesen, W.M and Moore-Barton, H.L and Elmslie, F.V and Toutain, A and Amiel, J and Malan, V and Tsai, A.C and Cheung, S.W and Gilissen, C.F.H.A and Verwiel, E.T.P and Martens, S and Feuth, T and Bongers, M.H.F and Vries, P.F. de and Scheffer, H and Vissers, L.E.L.M and Brouwer, A.P.M. de and Brunner, H.G and Veltman, J.A and Schenck, A and Yntema, H.G and Vries, L.B.A. de
Nature genetics, ISSN 1061-4036, 2012, Volume 44, Issue 6, pp. 639 - 641
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Complex syndromes | Molecular genetics | Medical genetics | Biological and medical sciences | Chromatin. Chromosome | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Chromosome Deletion | Humans | Middle Aged | Male | Syndrome | Haploinsufficiency | Intellectual Disability - genetics | Chromosomes, Human, Pair 17 | Facies | Aging | Female | Aged | Smith-Magenis Syndrome | Mutation | Nuclear Proteins - genetics | Abnormalities, Multiple - genetics | Gene mutations | Genetic aspects | Research | Gene expression | Health aspects | Mental illness | Risk factors | Medical research | Brain | Chromatin | Insects | Experiments | Index Medicus
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7. Full Text Sirolimus Therapy in Tuberous Sclerosis or Sporadic Lymphangioleiomyomatosis
by S, Tim Doyle, L.R.C.P. & and Elmslie, Frances and Johnson, Simon R and Sci, Julian R. Sampson, D.M., F. Med and Kingswood, J. Chris and McCartney, Deborah L and de Vries, Petrus J and Davies, D. Mark and Cox, Jane A and Saggar, Anand and Tattersfield, Anne E
The New England journal of medicine, ISSN 0028-4793, 01/2008, Volume 358, Issue 2, pp. 200 - 203
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Protein Kinases - metabolism | Sirolimus - therapeutic use | Tuberous Sclerosis - complications | Humans | Immunosuppressive Agents - therapeutic use | Kidney Diseases - drug therapy | Angiomyolipoma - drug therapy | Lymphangioleiomyomatosis - complications | Protein Kinase Inhibitors - therapeutic use | Angiomyolipoma - etiology | Immunosuppressive Agents - adverse effects | TOR Serine-Threonine Kinases | Kidney Diseases - etiology | Sirolimus - adverse effects | Clinical Trials, Phase II as Topic | Index Medicus | Abridged Index Medicus
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8. Full Text How should health policy and practice respond to the increased genetic risk associated with close relative marriage? results of a UK Delphi consensus building exercise
by Salway, Sarah and Yazici, Edanur and Khan, Nasaim and Ali, Parveen and Elmslie, Frances and Thompson, Julia and Qureshi, Nadeem
BMJ open, ISSN 2044-6055, 07/2019, Volume 9, Issue 7, pp. e028928 - e028928
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Births | Minority & ethnic groups | Health care policy | Index Medicus
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9. Full Text A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect
by McEntagart, Meriel and Williamson, Kathleen A and Rainger, Jacqueline K and Wheeler, Ann and Seawright, Anne and De Baere, Elfride and Verdin, Hannah and Bergendahl, L. Therese and Quigley, Alan and Rainger, Joe and Dixit, Abhijit and Sarkar, Ajoy and López Laso, Eduardo and Sanchez-Carpintero, Rocio and Barrio, Jesus and Bitoun, Pierre and Prescott, Trine and Riise, Ruth and McKee, Shane and Cook, Jackie and McKie, Lisa and Ceulemans, Berten and Meire, Françoise and Temple, I. Karen and Prieur, Fabienne and Williams, Jonathan and Clouston, Penny and Németh, Andrea H and Banka, Siddharth and Bengani, Hemant and Handley, Mark and Freyer, Elisabeth and Ross, Allyson and van Heyningen, Veronica and Marsh, Joseph A and Elmslie, Frances and FitzPatrick, David R and DDD Study
American journal of human genetics, ISSN 0002-9297, 05/2016, Volume 98, Issue 5, pp. 981 - 992
ACTA2 | iris | cerebellar ataxia | cerebellar hypoplasia | calcium | inositol triphosphate | ITPR1 | aniridia | cerebellar vermis | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Inositol 1,4,5-Trisphosphate Receptors - chemistry | Humans | Middle Aged | Aniridia - etiology | Cerebellar Ataxia - etiology | Male | Aniridia - pathology | Adult | Female | Child | Lymphocytes - metabolism | Cells, Cultured | Intellectual Disability - pathology | Cerebellar Ataxia - pathology | Mutation - genetics | Microscopy, Confocal | Lymphocytes - pathology | Animals | Pedigree | Adolescent | Protein Conformation | Mice | Intellectual Disability - etiology | Genes, Dominant - genetics | Inositol 1,4,5-Trisphosphate Receptors - genetics | Causes of | Genetic aspects | Gene mutations | Health aspects | Aniridia | Ataxia | Eye diseases | Genetic disorders | Mutation | Calcium | Genes | Index Medicus | Report
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10. Full Text Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders
by Faundes, Víctor and Newman, William G and Bernardini, Laura and Canham, Natalie and Clayton-Smith, Jill and Dallapiccola, Bruno and Davies, Sally J and Demos, Michelle K and Goldman, Amy and Gill, Harinder and Horton, Rachel and Kerr, Bronwyn and Kumar, Dhavendra and Lehman, Anna and McKee, Shane and Morton, Jenny and Parker, Michael J and Rankin, Julia and Robertson, Lisa and Temple, I. Karen and Adam, Shelin and du Souich, Christèle and Elliott, Alison M and Lehman, Anna and Mwenifumbo, Jill and Nelson, Tanya N and van Karnebeek, Clara and Friedman, Jan M 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 Bayzetinova, Tanya 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 Cox, Helen and Cresswell, Lara and Cross, Gareth and Crow, Yanick and D’Alessandro, Mariella and Dabir, Tabib and Davidson, Rosemarie and Davies, Sally and ... and Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Study and The Deciphering Developmental Disorders (DDD) Study and Clin Assessment Utility Sequencin and Deciphering Dev Disorders DD and Deciphering Developmental Disorders (DDD) Study
American journal of human genetics, ISSN 0002-9297, 01/2018, Volume 102, Issue 1, pp. 175 - 187
KDM5B | histone lysine methyltransferase | KMT2C | histone lysine demethylase | KMT2B | Developmental disorders | chromatin remodeling | KMT5B | ASH1L | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Histone-Lysine N-Methyltransferase - genetics | Developmental Disabilities - enzymology | Humans | Adolescent | Child, Preschool | Female | Male | Developmental Disabilities - genetics | Mutation | Child | Histone Demethylases - genetics | Haploinsufficiency | Methyltransferases | Lysine | Analysis | Genomics | Cytogenetics | Methylation | Pediatric neurology | Index Medicus | Report
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