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index medicus (14) 14
genetics & heredity (13) 13
adducted thumb (12) 12
ehlers-danlos syndrome (12) 12
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ehlers-danlos syndrome - genetics (10) 10
foot syndrome (9) 9
sulfotransferases - genetics (9) 9
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adducted thumb-clubfoot syndrome (6) 6
mutation (6) 6
phenotype (6) 6
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ehlers–danlos syndrome (5) 5
extracellular-matrix (5) 5
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decorin (4) 4
dermatan-4-sulfotransferase (4) 4
ehlers-danlos syndrome - diagnosis (4) 4
facies (4) 4
iduronic acid (4) 4
infant (4) 4
sulfotransferases - deficiency (4) 4
abnormalities, multiple - genetics (3) 3
adducted thumb‐clubfoot syndrome (3) 3
adult (3) 3
biochemistry & molecular biology (3) 3
chondroitin/dermatan sulfate (3) 3
chst14 gene (3) 3
club foot syndrome (3) 3
congenital contractures (3) 3
connective tissue (3) 3
eds (3) 3
ehlers-danlos syndrome - enzymology (3) 3
ehlers-danlos syndrome - pathology (3) 3
ehlers‐danlos syndrome (3) 3
fibroblasts - metabolism (3) 3
gene (3) 3
glycosaminoglycans (3) 3
molecular sequence data (3) 3
molecular-cloning (3) 3
musculocontractural ehlers-danlos syndrome (3) 3
pedigree (3) 3
sulfates (3) 3
vib (3) 3
abnormalities, multiple - diagnosis (2) 2
age (2) 2
amino acid sequence (2) 2
animals (2) 2
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deficiency (2) 2
dermatan 4-o-sulfotransferase 1 deficiency (2) 2
dermatan 4-o-sulfotransferase-1 (2) 2
dermatan 4‐o‐sulfotransferase 1 deficiency (2) 2
dermatan 4‐o‐sulfotransferase‐1 (2) 2
dermatan sulfate - biosynthesis (2) 2
dermatan sulfate biosynthesis (2) 2
dermis - pathology (2) 2
diagnosis, differential (2) 2
distal arthrogryposis (2) 2
dna mutational analysis (2) 2
dse (2) 2
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ehlers-danlos syndrome kosho type (2) 2
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etiology (2) 2
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joint (2) 2
joint instability - congenital (2) 2
large subcutaneous hematoma (2) 2
musculocontractural ehlers‐danlos syndrome (2) 2
mutation - genetics (2) 2
myopathy (2) 2
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proteoglycans (2) 2
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Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2012, Volume 158A, Issue 11, pp. 2935 - 2940
We report on a 16‐year‐old female originally diagnosed with Marden‐Walker syndrome due to features such as facial dysmorphism, several musculoskeletal... 
dermatan 4‐O‐sulfotransferase 1 deficiency | congenital contractures | kyphoscoliosis | malformation | joint laxity | adducted thumb‐clubfoot syndrome | Marden‐Walker syndrome | craniofacial characteristics | skin laxity | recurrent subcutaneous hematomas | Congenital contractures | Adducted thumb-clubfoot syndrome | Skin laxity | Joint laxity | Malformation | Recurrent subcutaneous hematomas | Dermatan 4-O-sulfotransferase 1 deficiency | Marden-Walker syndrome | Craniofacial characteristics | Kyphoscoliosis | dermatan 4-O-sulfotransferase 1 deficiency | DEFECT | FOOT SYNDROME | adducted thumb-clubfoot syndrome | VIB | DERMATAN SULFATE | GENE | BIOSYNTHESIS | GENETICS & HEREDITY | MUTATIONS | CHST14 | MANIFESTATIONS | Sulfotransferases - genetics | Diagnosis, Differential | Humans | Connective Tissue Diseases - diagnosis | Molecular Sequence Data | Genotype | Tomography, X-Ray Computed | Sulfotransferases - deficiency | Arachnodactyly - diagnosis | Ehlers-Danlos Syndrome - genetics | Phenotype | Comparative Genomic Hybridization | Contracture - diagnosis | Abnormalities, Multiple - diagnosis | Base Sequence | Adolescent | Blepharophimosis - diagnosis | Facies | Brain - pathology | Female | Ehlers-Danlos Syndrome - diagnosis | Mutation | Spine - pathology | Physiological aspects | Skin | Ehlers-Danlos syndrome | Genes | Age
Journal Article
HUMAN MOLECULAR GENETICS, ISSN 0964-6906, 09/2013, Volume 22, Issue 18, pp. 3761 - 3772
The sulfated polysaccharide dermatan sulfate (DS) forms proteoglycans with a number of distinct core proteins. Iduronic acid-containing domains in DS have a... 
EMBRYONIC PIG BRAIN | ADDUCTED THUMB | IDURONIC ACID | BIOCHEMISTRY & MOLECULAR BIOLOGY | THUMB-CLUBFOOT SYNDROME | GENETICS & HEREDITY | SQUAMOUS-CELL CARCINOMA | DANLOS-SYNDROME | CENTRAL-NERVOUS-SYSTEM | CHONDROITIN/DERMATAN SULFATE | EXTRACELLULAR-MATRIX | TENASCIN-X DEFICIENCY
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 10/2019, p. 103798
Journal Article
Human Mutation, ISSN 1059-7794, 05/2015, Volume 36, Issue 5, pp. 535 - 547
Bi-allelic variants in CHST14, encoding dermatan 4-O-sulfotransferase-1 (D4ST1), cause musculocontractural Ehlers-Danlos syndrome (MC-EDS), a recessive... 
dermatan 4‐O‐sulfotransferase‐1 | Ehlers–Danlos syndrome | CHST14 | dermatan sulfate epimerase‐1 | EDS | DSE | Ehlers-Danlos syndrome | Dermatan sulfate epimerase-1 | Dermatan 4-O-sulfotransferase-1 | PROTEIN | ADDUCTED THUMB | CONTRACTURES | dermatan sulfate epimerase-1 | DERMATAN-4-SULFOTRANSFERASE | FOOT SYNDROME | CHST14 GENE | IDURONIC ACID | THUMB-CLUBFOOT SYNDROME | GENETICS & HEREDITY | dermatan 4-O-sulfotransferase-1 | CHONDROITIN/DERMATAN SULFATE | MUTATIONS | Exons | Humans | Extracellular Matrix - metabolism | Molecular Sequence Data | Dermatan Sulfate - biosynthesis | Male | Neoplasm Proteins - metabolism | RNA, Messenger - metabolism | DNA-Binding Proteins - metabolism | Young Adult | Ehlers-Danlos Syndrome - genetics | Facies | Antigens, Neoplasm - metabolism | Adult | Female | Sulfotransferases - metabolism | Neoplasm Proteins - genetics | Child | Skin - pathology | Sulfotransferases - genetics | Amino Acid Sequence | Antigens, Neoplasm - genetics | RNA, Messenger - genetics | DNA-Binding Proteins - genetics | Fibronectins - metabolism | Genetic Heterogeneity | Collagen - metabolism | Phenotype | Sequence Alignment | Ehlers-Danlos Syndrome - metabolism | Biopsy | Pedigree | Adolescent | Skin - ultrastructure | Ehlers-Danlos Syndrome - diagnosis | Mutation | Sulfotransferases - chemistry | Fibronectins | Glycosaminoglycans | Collagen | Physiological aspects | Genetic research | Family | Biosynthesis | Sulfates | Cell differentiation | Genetic disorders | Cell adhesion & migration
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2011, Volume 155, Issue 8, pp. 1949 - 1958
Loss‐of‐function mutations in CHST14, dermatan 4‐O‐sulfotransferase 1 (D4ST1) deficiency, have recently been found to cause adducted thumb‐clubfoot syndrome... 
dermatan 4‐O‐sulfotransferase 1 deficiency | malformations | congenital contractures | progressive multisystem fragility‐related manifestations | musculocontractural Ehlers–Danlos syndrome | adducted thumb‐clubfoot syndrome | Ehlers–Danlos syndrome Kosho type | Malformations | Musculocontractural Ehlers-Danlos syndrome | Congenital contractures | Adducted thumb-clubfoot syndrome | Ehlers-Danlos syndrome Kosho type | Dermatan 4-O-sulfotransferase 1 deficiency | Progressive multisystem fragility-related manifestations | dermatan 4-O-sulfotransferase 1 deficiency | ADDUCTED THUMB | CONTRACTURES | musculocontractural Ehlers-Danlos syndrome | DERMATAN-4-SULFOTRANSFERASE | adducted thumb-clubfoot syndrome | VIB | GENE | GENETICS & HEREDITY | CLUB FOOT SYNDROME | progressive multisystem fragility-related manifestations | MUTATIONS | CHST14 | JOINT | Sulfotransferases - genetics | Genetic Association Studies | Humans | Child, Preschool | Male | Developmental Disabilities - genetics | Sulfotransferases - deficiency | Ehlers-Danlos Syndrome - genetics | Phenotype | DNA Mutational Analysis | Clubfoot - surgery | Child | Cryptorchidism - genetics | Ehlers-Danlos Syndrome - enzymology | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Heart | Ehlers-Danlos syndrome | Congenital defects | Central nervous system | Birth | Procollagen-lysine 5-dioxygenase | Kidney | Dislocation | Fibrillogenesis | Collagen | Hematoma | Skin | Children | Mutation | Joints | Age
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2012, Volume 158A, Issue 6, pp. 1344 - 1354
Journal Article
Genetic Counseling, ISSN 1015-8146, 2014, Volume 25, Issue 2, pp. 159 - 169
Journal Article
2010, Progress in Molecular Biology and Translational Science, ISBN 9780123812827, Volume 93, Issue C, 19
Book Chapter