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autophagy (2) 2
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1. Full Text X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
by Olcese, C and Patel, M.P and Shoemark, A and Kiviluoto, S and Legene, M and Williams, H.J and Vaughan, C.K and Hayward, J and Goldenberg, A and Emes, R.D and Munye, M.M and Dyer, L and Cahill, T and Bevillard, J and Gehrig, C and Guipponi, M and Chantot, S and Duquesnoy, P and Thomas, L and Jeanson, L and Copin, B and Tamalet, A and Thauvin-Robinet, C and Papon, J.F and Garin, A and Pin, I and Vera, G and Aurora, P and Fassad, M.R and Jenkins, L and Boustred, C and Cullup, T and Dixon, M and Onoufriadis, A and Bush, A and Chung, E.M and Antonarakis, S.E and Loebinger, M.R and Wilson, R and Armengot, M and Escudier, E and Hogg, C and Amselem, S and Sun, Z and Bartoloni, L and Blouin, J.L and Mitchison, H.M and Schmidts, M and et al and UK10K Rare Grp and UK10K Rare Group
Nature Communications, ISSN 2041-1723, 2017, Volume 8, Issue 1, p. 14279
By moving essential body fluids and molecules, motile cilia and flagella govern respiratory mucociliary clearance, laterality determination and the transport... 
DEFECTS | PROTEIN | VARIANTS | MULTIDISCIPLINARY SCIENCES | IDENTIFIES MUTATIONS | ARMS | R2TP COMPLEX | OUTER | OF-FUNCTION MUTATIONS | MOTILITY | INNER | Sequence Deletion | Sperm Motility - genetics | Axonemal Dyneins - metabolism | Humans | Child, Preschool | Male | Kartagener Syndrome - genetics | Phylogeny | Cytoplasm - pathology | Axoneme - pathology | HEK293 Cells | Apoptosis Regulatory Proteins - genetics | Cilia - ultrastructure | Adult | Female | Genetic Diseases, X-Linked - genetics | Microtubule Proteins - genetics | Child | Infant, Newborn | Disease Models, Animal | Microscopy, Electron, Transmission | Cilia - pathology | Genes, X-Linked - genetics | Molecular Chaperones - genetics | Zebrafish | Protein Folding | Apoptosis Regulatory Proteins - metabolism | Whole Exome Sequencing | Point Mutation | Sequence Alignment | Animals | Pedigree | Kartagener Syndrome - pathology | Adolescent | Genetic Diseases, X-Linked - pathology | HSP90 Heat-Shock Proteins - metabolism | Life Sciences | Genetics
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2. Full Text Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability
by Donkervoort, S and Hu, Y and Stojkovic, T and Voermans, N.C and Foley, A.R and Leach, M.E and Dastgir, J and Bolduc, V and Cullup, T and Becdelievre, A. de and Yang, L and Su, H and Meilleur, K and Schindler, A.B and Kamsteeg, E.J and Richard, P and Butterfield, R.J and Winder, T.L and Crawford, T.O and Weiss, R.B and Muntoni, F and Allamand, V and Bonnemann, C.G
Human Mutation, ISSN 1059-7794, 2015, Volume 36, Issue 1, pp. 48 - 56
Collagen 6-related dystrophies and myopathies (COL6-RD) are a group of disorders that form a wide phenotypic spectrum, ranging from severe Ullrich congenital... 
collagen VI | genetic counseling | COL6A2 | COL6A1 | COL6A3 | Ullrich congenital muscular dystrophy | Bethlem myopathy | Genetic counseling | Collagen VI | GENE COLIAI | CONGENITAL MUSCULAR-DYSTROPHY | MUSCLE | I COLLAGEN | SOMATIC MOSAICISM | ULLRICH MYOPATHY | GENETICS & HEREDITY | VI MUTATIONS | OSTEOGENESIS IMPERFECTA | INHERITANCE | Humans | Middle Aged | Collagen Type VI - metabolism | Male | Contracture - genetics | Muscular Dystrophies - genetics | Muscles - pathology | Sclerosis - metabolism | Collagen Type VI - genetics | Young Adult | Sclerosis - pathology | Adult | Female | Child | Muscular Dystrophies - metabolism | Muscular Dystrophies - congenital | Contracture - pathology | Muscular Dystrophies - pathology | Sclerosis - genetics | Contracture - metabolism | Pedigree | Adolescent | Mosaicism | Aged | Mutation | Parenting | Nervous system diseases | Genetic disorders | Gene mutations | Collagen | Analysis | Medical genetics | Genetic aspects | Fibroblasts | Genotype & phenotype
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3. Full Text Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia
by Best, Sunayna and Shoemark, Amelia and Rubbo, Bruna and Patel, Mitali P and Fassad, Mahmoud R and Dixon, Mellisa and Rogers, Andrew V and Hirst, Robert A and Rutman, Andrew and Ollosson, Sarah and Jackson, Claire L and Goggin, Patricia and Thomas, Simon and Pengelly, Reuben and Cullup, Thomas and Pissaridou, Eleni and Hayward, Jane and Onoufriadis, Alexandros and O'Callaghan, Christopher and Loebinger, Michael R and Wilson, Robert and Chung, Eddie M.K and Kenia, Priti and Doughty, Victoria L and Carvalho, Julene S and Lucas, Jane S and Mitchison, Hannah M and Hogg, Claire
Thorax, ISSN 0040-6376, 02/2019, Volume 74, Issue 2, pp. 203 - 205
Primary ciliary dyskinesia (PCD) is associated with abnormal organ positioning (situs) and congenital heart disease (CHD). This study investigated... 
rare lung diseases | paediatric lung disaese | bronchiectasis | primary ciliary dyskinesia | RESPIRATORY SYSTEM | Heart | Studies | Biomedical research | Hospitals | Congenital diseases | Genes | Cardiovascular disease | Genetics | Mutation | Defects
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4. Full Text Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus
by Fassad, Mahmoud R and Shoemark, Amelia and Legendre, Marie and Hirst, Robert A and Koll, France and le Borgne, Pierrick and Louis, Bruno and Daudvohra, Farheen and Patel, Mitali P and Thomas, Lucie and Dixon, Mellisa and Burgoyne, Thomas and Hayes, Joseph and Nicholson, Andrew G and Cullup, Thomas and Jenkins, Lucy and Carr, Siobhán B and Aurora, Paul and Lemullois, Michel and Aubusson-Fleury, Anne and Papon, Jean-François and O’Callaghan, Christopher and Amselem, Serge and Hogg, Claire and Escudier, Estelle and Tassin, Anne-Marie and Mitchison, Hannah M
The American Journal of Human Genetics, ISSN 0002-9297, 12/2018, Volume 103, Issue 6, pp. 984 - 994
Motile cilia move body fluids and gametes and the beating of cilia lining the airway epithelial surfaces ensures that they are kept clear and protected from... 
dynein | mutation | tomography | motile cilia | DNAH9 | situs inversus | primary ciliary dyskinesia | DIAGNOSIS | GENETICS | DYSKINESIA | GENES | GENETICS & HEREDITY | Respiratory System - pathology | Amino Acid Sequence | Humans | Axonemal Dyneins - genetics | Child, Preschool | Male | Mutation - genetics | Cilia - genetics | Sequence Alignment | Adolescent | Situs Inversus - genetics | Dyneins - genetics | High-Throughput Nucleotide Sequencing - methods | Child | Ciliary Motility Disorders - genetics | Rare diseases | Usage | Gene mutations | Cilia and ciliary motion | Genetic aspects | Research | Nucleotide sequencing | Diagnosis | DNA sequencing | Life Sciences | Report
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5. Full Text Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing
by Scoto, Mariacristina and Cullup, Thomas and Cirak, Sebahattin and Yau, Shu and Manzur, Adnan Y and Feng, Lucy and Jacques, Thomas S and Anderson, Glenn and Abbs, Stephen and Sewry, Caroline and Jungbluth, Heinz and Muntoni, Francesco
European Journal of Human Genetics, ISSN 1018-4813, 11/2013, Volume 21, Issue 11, pp. 1249 - 1252
Recessive nebulin (NEB) mutations are a common cause of nemaline myopathy (NM), typically characterized by generalized weakness of early-onset and nemaline... 
nebulin | distal myopathy | next generation sequencing | GENE | RECESSIVE NEMALINE MYOPATHY | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | MUSCLE | IDENTIFICATION | DELETION | Distal Myopathies - pathology | Humans | Muscle, Skeletal - ultrastructure | Child, Preschool | Male | Mutation - genetics | Muscle Proteins - genetics | Magnetic Resonance Imaging | Distal Myopathies - genetics | Phenotype | Biopsy | Age of Onset | Adult | Muscle, Skeletal - pathology | High-Throughput Nucleotide Sequencing - methods | Child | Infant, Newborn | Neuromuscular diseases | Nuclear magnetic resonance--NMR | Exons | Genes | Childrens health | Rods | Genomes | Leg | Feet | N.M.R | Hospitals | Magnetic resonance imaging | Clonal deletion | Scoliosis | Nemaline myopathy | Alleles | Genetics | Children | Mutation | Age | Myopathy
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6. Full Text Primary ciliary dyskinesia with normal ultrastructure: Three-dimensional tomography detects absence of DNAH11
by Shoemark, Amelia and Shoemark, Amelia and Burgoyne, Thomas and Kwan, Robert and Dixon, Mellisa and Patel, Mitali P and Rogers, Andrew V and Onoufriadis, Alexandros and Scully, Juliet and Daudvohra, Farheen and Cullup, Thomas and Cullup, Thomas and Loebinger, Michael R and Wilson, Robert and Wilson, Robert and Chung, Eddie M K and Chung, Eddie M.K and Bush, Andrew and Mitchison, Hannah M and Mitchison, Hannah M and Hogg, Claire and Hogg, Claire
The European respiratory journal, ISSN 0903-1936, 2018, Volume 51, Issue 2, pp. 1701809 - 1701809
In primary ciliary dyskinesia (PCD), motile ciliary dysfunction arises from ciliary defects usually confirmed by transmission electron microscopy (TEM). In 30%... 
DIAGNOSIS | DEFECTS | IMMUNOFLUORESCENCE | GENETICS | RESPIRATORY SYSTEM | CRYOELECTRON TOMOGRAPHY | RESPIRATORY CILIA | MUTATIONS | Transmission electron microscopy | Primary ciliary dyskinesia | Ultrastructure | Dynein | Genetic analysis | Tomography | Diagnosis | Mutation | Cilia | Dyskinesia
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7. Full Text Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy
by Cullup, Thomas and Kho, Ay Lin and Dionisi-Vici, Carlo and Brandmeier, Birgit and Smith, Frances and Urry, Zoe and Simpson, Michael A and Yau, Shu and Bertini, Enrico and McClelland, Verity and Al-Owain, Mohammed and Koelker, Stefan and Koerner, Christian and Hoffmann, Georg F and Wijburg, Frits A and ten Hoedt, Amber E and Rogers, R. Curtis and Manchester, David and Miyata, Rie and Hayashi, Masaharu and Said, Elizabeth and Soler, Doriette and Kroisel, Peter M and Windpassinger, Christian and Filloux, Francis M and Al-Kaabi, Salwa and Hertecant, Jozef and del Campo, Miguel and Buk, Stefan and Bodi, Istvan and Goebel, Hans-Hilmar and Sewry, Caroline A and Abbs, Stephen and Mohammed, Shehla and Josifova, gana and Gautel, Mathias and Jungbluth, Heinz
Nature genetics, ISSN 1061-4036, 2013, Volume 45, Issue 1, pp. 83 - 87
Vici syndrome is a recessively inherited multisystem disorder characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and... 
SKELETAL-MUSCLE | PROTEIN | INHIBITION | CORPUS-CALLOSUM | AGENESIS | GENETICS & HEREDITY | ALBINISM | DEGRADATION | MYOPATHY | HYPOPIGMENTATION | IMMUNODEFICIENCY | Antigens, Neoplasm - genetics | Humans | Muscle, Skeletal - ultrastructure | Genes, Recessive | Exome | Lysosomes - metabolism | Proteins - metabolism | Biopsy | Agenesis of Corpus Callosum - genetics | Cataract - genetics | Family | Consanguinity | Autophagy - genetics | Muscle, Skeletal - pathology | Mutation | Autophagy (Cytology) | Genetic disorders | Gene mutations | Syndromes | Genetic aspects | Health aspects | Multiple abnormalities | Cell culture | Biomedical research | Homeostasis | Kinases | Autophagy | Defects | Proteins | Studies | Musculoskeletal system | Microscopy | Genetics | Charitable foundations
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8. Full Text Reply: Aberrant splicing induced by the most commonEPG5mutation in an individual with Vici syndrome
by Byrne, Susan and Cullup, Thomas and Fanto, Manolis and Gautel, Mathias and Jungbluth, Heinz
Brain, ISSN 0006-8950, 09/2016, Volume 139, Issue 9, pp. e53 - e53
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9. Full Text Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis
by Omoyinmi, Ebun and Standing, Ariane and Keylock, Annette and Price-Kuehne, Fiona and Melo Gomes, Sonia and Rowczenio, Dorota and Nanthapisal, Sira and Cullup, Thomas and Nyanhete, Rodney and Ashton, Emma and Murphy, Claire and Clarke, Megan and Ahlfors, Helena and Jenkins, Lucy and Gilmour, Kimberly and Eleftheriou, Despina and Lachmann, Helen J and Hawkins, Philip N and Klein, Nigel and Brogan, Paul A
PLoS ONE, ISSN 1932-6203, 07/2017, Volume 12, Issue 7, p. e0181874
Background Monogenic autoinflammatory diseases (AID) are a rapidly expanding group of genetically diverse but phenotypically overlapping systemic inflammatory... 
ARTICULAR SYNDROME | DEFECTS | VARIANTS | AUTOIMMUNITY | MULTIDISCIPLINARY SCIENCES | WISKOTT-ALDRICH-SYNDROME | DISEASE | THROMBOCYTOPENIA | MUTATIONS | SOMATIC MOSAICISM | IMMUNODEFICIENCY | Genetic Predisposition to Disease | Reproducibility of Results | Humans | Child, Preschool | Male | Mutation - genetics | DNA - genetics | Vasculitis - genetics | Inflammation - genetics | Female | Heterozygote | Aged | High-Throughput Nucleotide Sequencing - methods | Child | Vasculitis | Genetic variation | Inflammation | Genetic aspects | Nucleotide sequencing | Identification and classification | Health aspects | Methods | DNA sequencing | Multiplexing | Disease | Laboratories | Genes | Genomics | Childrens health | Disorders | Innate immunity | Arthritis | Gene deletion | Immunity | Genetic screening | Gene sequencing | Clonal deletion | Deletion | Genetics | Tumor necrosis factor-TNF | Diagnosis | Deoxyribonucleic acid--DNA | Rheumatology | Patients | Morbidity | Vasoactive intestinal peptide | Mosaicism | Diagnostic systems | Mutation | Deoxyribonucleic acid | DNA
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10. Full Text Mosaicism for dominant collagen VI mutations as a cause for intra-familial phenotypic variability
by Donkervoort, Sandra and Hu, Ying and Stojkovic, Tanya and Voermans, Nicol and Foley, A. Reghan and Leach, Meganne E and Dastgir, Jahannaz and Bolduc, Veronique and Cullup, Thomas and de Becdelièvre, Alix and Yang, Lin and Su, Hai and Meilleur, Katherine and Schindler, Alice B and Kamsteeg, Erik-Jan and Richard, Pascale and Butterfield, Russell and Winder, Thomas L and Crawford, Thomas and Weiss, Robert B and Muntoni, Francesco and Allamand, Valérie and Bönnemann, Carsten G
Human mutation, ISSN 1059-7794, 1/2015, Volume 36, Issue 1, pp. 48 - 56
Collagen VI-related dystrophies and myopathies (COL6-RD) are a group of disorders that form a wide phenotypic spectrum, ranging from severe Ullrich congenital... 
Bethlem Myopathy | Ullrich Congenital Muscular Dystrophy | COL6A2 and COL6A3 | Collagen VI | Genetic counseling | COL6A1
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11. Full Text Pyramidal tract mapping by diffusion tensor magnetic resonance imaging in multiple sclerosis: improving correlations with disability
by Wilson, M and Best, Sunayna and Shoemark, Amelia and Tench, C R and Rubbo, Bruna and Morgan, P S and Patel, Mitali P and Blumhardt, L D and Fassad, Mahmoud R and Dixon, Mellisa and Rogers, Andrew V and Hirst, Robert A and Rutman, Andrew and Ollosson, Sarah and Jackson, Claire L and Goggin, Patricia and Thomas, Simon and Pengelly, Reuben and Cullup, Thomas and Pissaridou, Eleni and Hayward, Jane and Onoufriadis, Alexandros and O’Callaghan, Christopher and Loebinger, Michael R and Wilson, Robert and Chung, Eddie MK and Kenia, Priti and Doughty, Victoria L and Carvalho, Julene S and Lucas, Jane S and Mitchison, Hannah M and Hogg, Claire
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0040-6376, 02/2003, Volume 74, Issue 2, p. 203
Background: Current magnetic resonance imaging (MRI) outcome measures such as T2 lesion load correlate poorly with disability in multiple sclerosis. Diffusion... 
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12. Full Text High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations
by Shoemark, Amelia and Moya, Eduardo and Hirst, Robert A and Patel, Mitali P and Robson, Evelyn A and Hayward, Jane and Scully, Juliet and Fassad, Mahmoud R and Lamb, William and Schmidts, Miriam and Dixon, Mellisa and Patel-King, Ramila S and Rogers, Andrew V and Rutman, Andrew and Jackson, Claire L and Goggin, Patricia and Rubbo, Bruna and Ollosson, Sarah and Carr, Siobhán and Walker, Woolf and Adler, Beryl and Loebinger, Michael R and Wilson, Robert and Bush, Andrew and Williams, Hywel and Boustred, Christopher and Jenkins, Lucy and Sheridan, Eamonn and Chung, Eddie M K and Watson, Christopher M and Cullup, Thomas and Lucas, Jane S and Kenia, Priti and O'Callaghan, Christopher and King, Stephen M and Hogg, Claire and Mitchison, Hannah M
Thorax, ISSN 0040-6376, 02/2018, Volume 73, Issue 2, pp. 157 - 166
Rationale Primary ciliary dyskinesia is a genetically heterogeneous inherited condition characterised by progressive lung disease arising from abnormal cilia... 
mutation | CCDC103 | genetic testing | respiratory tract | diagnosis | cilia | primary ciliary dyskinesia | OUTER DYNEIN ARMS | BEAT PATTERN | RANDOMIZATION | GENE | RESPIRATORY SYSTEM | LATERALITY DEFECTS | NITRIC-OXIDE | AXONEME | MUCOCILIARY CLEARANCE | INNER | AGE | Pakistan - ethnology | Microtubule-Associated Proteins - genetics | Humans | Asian Continental Ancestry Group - genetics | Child, Preschool | Male | United Kingdom | Kartagener Syndrome - genetics | Mutation - genetics | Kartagener Syndrome - ethnology | Young Adult | Adolescent | Adult | Female | Child | Cohort Studies | Medical tests | Care and treatment | Usage | Genetic aspects | Kartagener syndrome | Diagnosis | Proteins | Motility | Microscopy | Genes | Diagnostic tests | Biochemistry | Mutation | Medical diagnosis | Patients | Defects
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13. Full Text Reply: Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome
by Byrne, Susan and Cullup, Thomas and Fanto, Manolis and Gautel, Mathias and Jungbluth, Heinz
Brain, ISSN 0006-8950, 09/2016, Volume 139, Issue 9, p. e53
DISORDERS | AUTOPHAGY | NEUROSCIENCES | CLINICAL NEUROLOGY | Cataract - genetics | Mutation | Agenesis of Corpus Callosum - genetics | Humans
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14. Full Text Clinical utility gene card for: Vici syndrome
by Cullup, Thomas and Dionisi-Vici, Carlo and Kho, Ay L and Yau, Shu and Mohammed, Shehla and Gautel, Mathias and Jungbluth, Heinz
European Journal of Human Genetics, ISSN 1018-4813, 03/2014, Volume 22, Issue 3, pp. 435 - 435
SENSORINEURAL HEARING-LOSS | BIOCHEMISTRY & MOLECULAR BIOLOGY | CORPUS-CALLOSUM | AGENESIS | GENETICS & HEREDITY | ALBINISM | MUSCLE BIOPSY | HYPOPIGMENTATION | IMMUNODEFICIENCY | Agenesis of Corpus Callosum - diagnosis | Proteins - genetics | Antigens, Neoplasm - genetics | Genetic Testing | Proteins - metabolism | Cataract - diagnosis | Agenesis of Corpus Callosum - genetics | Humans | Cataract - genetics | Clinical Utility Gene Card
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15. Full Text ABCA12 Is the Major Harlequin Ichthyosis Gene
by Thomas, Anna C and Cullup, Tom and Norgett, Elizabeth E and Hill, Tara and Barton, Stephanie and Dale, Beverly A and Sprecher, Eli and Sheridan, Eamonn and Taylor, Aileen E and Wilroy, Robert S and DeLozier, Celia and Burrows, Nigel and Goodyear, Helen and Fleckman, Philip and Stephens, Karen G and Mehta, Lakshmi and Watson, Rosemarie M and Graham, Robert and Wolf, Roni and Slavotinek, Anne and Martin, Madelena and Bourn, David and Mein, Charles A and O'Toole, Edel A and Kelsell, David P
Journal of Investigative Dermatology, ISSN 0022-202X, 11/2006, Volume 126, Issue 11, pp. 2408 - 2413
Harlequin ichthyosis (HI) is the most severe form of autosomal-recessive, congenital ichthyosis. Affected infants have markedly impaired barrier function and... 
TRANSPORTER ABCA12 | ERROR | MUTATIONS | DEFECT | DERMATOLOGY | Sequence Deletion | Frameshift Mutation | Oligonucleotide Array Sequence Analysis | Humans | Exons - genetics | Male | Codon, Nonsense | ATP-Binding Cassette Transporters - genetics | DNA Mutational Analysis | Ichthyosis, Lamellar - genetics | Polymerase Chain Reaction | Female | Polymorphism, Single Nucleotide | Mutation
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