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symphalangia (9) 9
index medicus (8) 8
humans (7) 7
mutation (6) 6
genetics & heredity (5) 5
male (5) 5
phenotype (5) 5
adult (4) 4
brachydactyly (4) 4
female (4) 4
mutation - genetics (4) 4
noggin protein (4) 4
proteins (4) 4
synostosis - genetics (4) 4
carpal bones - abnormalities (3) 3
carrier proteins - genetics (3) 3
cartilage (3) 3
conductive hearing-loss (3) 3
dysostosis (3) 3
foot deformities, congenital - genetics (3) 3
genes (3) 3
hand deformities, congenital - genetics (3) 3
hearing loss (3) 3
mutations (3) 3
nog gene (3) 3
pedigree (3) 3
proximal symphalangism (3) 3
stapes - abnormalities (3) 3
stapes ankylosis (3) 3
surgery (3) 3
syndactyly (3) 3
syndrome (3) 3
tarsal bones - abnormalities (3) 3
abnormalities, multiple - genetics (2) 2
amino acid sequence (2) 2
analysis (2) 2
ankylosis (2) 2
article (2) 2
biochemistry & molecular biology (2) 2
bone morphogenetic proteins (2) 2
brachydactyly - genetics (2) 2
child (2) 2
chondrodystrophy (2) 2
chromosome 17 (2) 2
chromosome deletion (2) 2
chromosomes (2) 2
chromosomes, human, pair 17 - genetics (2) 2
clonal deletion (2) 2
congenital diseases (2) 2
families & family life (2) 2
fingers & toes (2) 2
gdf5 (2) 2
gene (2) 2
gene deletion (2) 2
gene-encoding noggin (2) 2
genetic disorders (2) 2
genetic screening (2) 2
genotype & phenotype (2) 2
growth differentiation factor 5 (2) 2
hand (2) 2
hearing impairment (2) 2
hybridization (2) 2
intellectual disability - genetics (2) 2
joints (2) 2
literature reviews (2) 2
medicine (2) 2
mice (2) 2
multiple synostoses syndrome (2) 2
multiple-synostosis syndrome (2) 2
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noggin (2) 2
phenotypes (2) 2
polymerase chain reaction (2) 2
single-nucleotide polymorphism (2) 2
symphalangism (2) 2
syndactyly - genetics (2) 2
teunissen-cremers-syndrome (2) 2
17q22 microdeletion (1) 1
abnormalities (1) 1
abnormalities, multiple (1) 1
abnormalities, multiple - diagnosis (1) 1
acromesomelic chondrodysplasia (1) 1
adipose tissue (1) 1
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aged (1) 1
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ankylosis - genetics (1) 1
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arthritis (1) 1
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1. Full Text Homozygous CHST11 mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly
by Shabbir, Rana Muhammad Kamran and Nalbant, Gökhan and Ahmad, Nafees and Malik, Sajid and Tolun, Aslıhan
Journal of Medical Genetics, ISSN 0022-2593, 07/2018, Volume 55, Issue 7, pp. 489 - 496
BackgroundCarbohydrate sulfotransferase 11 (CHST11) is a membrane protein of Golgi that catalyses the transfer of sulfate to position 4 of the... 
overriding-finger/toe | brachydactyly | chst11 | skeletal defects | polysyndactyly | CHONDROITIN | GENOME-WIDE | SOX9 | GDF5 | TRANSCRIPTION | GENETICS & HEREDITY | Neonates | N-Acetylgalactosamine | Families & family life | Genomes | Arthritis | Lethality | Single-nucleotide polymorphism | Gene deletion | Defects | Chondrodystrophy | Morphogenesis | Proteins | Cartilage | Growth plate | Clonal deletion | Scoliosis | Lymphocytes | Fingers & toes | Bones | Symphalangia | Brachydactyly | Genotypes | Carbohydrates | Enzymes | MiRNA | Feet | Golgi apparatus | Membrane proteins | Limb malformations | Sulfotransferase | Syndactyly | Chondroitin sulfate | Mutation
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2. Full Text Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility
by Ylldlrlm, Yeşerin and Ouriachi, Toufik and Woehlbier, Ute and Ouahioune, Wahiba and Balkan, Mahmut and Malik, Sajid and Tolun, Asllhan
European Journal of Human Genetics, ISSN 1018-4813, 06/2018, Volume 26, Issue 6, pp. 876 - 885
In affected members of a consanguineous family, a syndrome, which is concurrence of set of medical signs, is often observed and commonly assumed to have arisen... 
MISSENSE | SPERM | GENE | PHOSPHORYLATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | MUTATIONS | PYRUVATE-DEHYDROGENASE COMPLEX | ACROMESOMELIC CHONDRODYSPLASIA | E1-ALPHA SUBUNIT | PREDICTION | Brachydactyly - physiopathology | Genetic Testing | Humans | Foot Deformities, Congenital - genetics | Male | Synostosis - genetics | Exome | Infertility, Male - epidemiology | Infertility, Male - genetics | Osteochondrodysplasias - genetics | Synostosis - physiopathology | Foot Deformities, Congenital - physiopathology | Adult | Female | Dwarfism - physiopathology | Pyruvate Dehydrogenase (Lipoamide) - genetics | Amino Acid Sequence | Bone Morphogenetic Protein Receptors, Type I - genetics | Infertility, Male - physiopathology | Dwarfism - genetics | Homozygote | Osteochondrodysplasias - physiopathology | Phenotype | Hand Deformities, Congenital - genetics | Brachydactyly - genetics | Hand Deformities, Congenital - physiopathology | Pedigree | Syndactyly - physiopathology | Syndactyly - genetics | Phenotypes | Dysplasia | Disease | Sperm | Amino acid sequence | Pyruvic acid | Genetic screening | Chondrodystrophy | Proteins | Pleiotropy | Conserved sequence | Mitochondria | Infertility | Symphalangia | Brachydactyly
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3. Full Text A comprehensive review of reported heritable noggin‐associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG‐related‐symphalangism spectrum disorder (NOG‐SSD)
by Potti, Tommy A and Petty, Elizabeth M and Lesperance, Marci M
Human Mutation, ISSN 1059-7794, 08/2011, Volume 32, Issue 8, pp. 877 - 886
The NOG gene encodes noggin, a secreted polypeptide that is important for regulating multiple signaling pathways during human development, particularly in... 
NOG | noggin | proximal symphalangism | stapes ankylosis | Noggin | Stapes ankylosis | Proximal symphalangism | BMP SIGNALING INHIBITION | GENE-ENCODING NOGGIN | BRACHYDACTYLY TYPE-B | BONE MORPHOGENETIC PROTEINS | CONGENITAL STAPES ANKYLOSIS | CONDUCTIVE HEARING-LOSS | GENETICS & HEREDITY | TEUNISSEN-CREMERS-SYNDROME | CYSTINE KNOT PROTEIN | MULTIPLE SYNOSTOSES SYNDROME | Synostosis - metabolism | Hearing Loss - diagnosis | Stapes - abnormalities | Tarsal Bones - abnormalities | Carpal Bones - metabolism | Humans | Databases, Genetic | Foot Deformities, Congenital - genetics | Foot Deformities, Congenital - metabolism | Hand Deformities, Congenital - diagnosis | Synostosis - genetics | Hearing Loss - metabolism | Brachydactyly - metabolism | Hand Deformities, Congenital - metabolism | Carpal Bones - abnormalities | Foot Deformities, Congenital - diagnosis | Mutation - genetics | Syndrome | Polymorphism, Genetic | Hearing Loss - genetics | Carrier Proteins - genetics | Synostosis - diagnosis | Phenotype | Carrier Proteins - metabolism | Hand Deformities, Congenital - genetics | Brachydactyly - genetics | Brachydactyly - diagnosis | Tarsal Bones - metabolism | Ankylosis | Dysostosis | Noggin protein | NOG gene | Hand | Hearing loss | Cartilage | Signal transduction | Databases | Reviews | Nose | Mutation | Symphalangia | Joints | Brachydactyly
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4. Full Text New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): Mutation within the GDF5 knuckle epitope causes noggin‐resistance
by Schwaerzer, Gerburg K and Hiepen, Christian and Schrewe, Heinrich and Nickel, Joachim and Ploeger, Frank and Sebald, Walter and Mueller, Thomas and Knaus, Petra
Journal of Bone and Mineral Research, ISSN 0884-0431, 02/2012, Volume 27, Issue 2, pp. 429 - 442
Growth and differentiation factor 5 (GDF5), a member of the bone morphogenetic protein (BMP) family, is essential for cartilage, bone, and joint formation.... 
NOGGIN | GDF5 | MULTIPLE SYNOSTOSES SYNDROME | BMPRII | KNUCKLE EPITOPE | BMP-RECEPTOR | BONE MORPHOGENETIC PROTEIN | CRYSTAL-STRUCTURE | ENDOCHONDRAL BONE | POINT MUTATIONS | PROXIMAL SYMPHALANGISM | ENDOCRINOLOGY & METABOLISM | TGF-BETA-SUPERFAMILY | DIFFERENTIATION | OLIGOMERIZATION | BRACHYDACTYLY TYPE A2 | Chondrogenesis - drug effects | Humans | Molecular Sequence Data | Synostosis - genetics | Myoblasts - drug effects | Myoblasts - metabolism | Growth Differentiation Factor 5 - genetics | Carrier Proteins - pharmacology | Protein Binding - drug effects | Synostosis - enzymology | p38 Mitogen-Activated Protein Kinases - metabolism | Amino Acid Sequence | Growth Differentiation Factor 5 - chemistry | Osteoblasts - drug effects | Cells, Cultured | Bone Morphogenetic Protein Receptors - metabolism | Mutant Proteins - metabolism | Synostosis - pathology | Enzyme Activation - drug effects | Epitopes - genetics | Mutation - genetics | Myoblasts - pathology | Syndrome | Osteoblasts - pathology | Animals | Signal Transduction - drug effects | Cell Differentiation - drug effects | Immobilized Proteins - pharmacology | Mice | Osteoblasts - metabolism | Smad Proteins - metabolism | Cell culture | Deafness | Smad protein | Dysostosis | Antagonists | Epitopes | Noggin protein | Cartilage | Bone growth | Molecular modelling | Reporter gene | Bone morphogenetic proteins | Growth differentiation factor 5 | Bone | Mutation | Symphalangia | Chondrogenesis | Growth factors | Joints | Osteogenesis
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5. Full Text A 1.6-Mb Microdeletion in chromosome 17q22 leads to NOG-related symphalangism spectrum disorder without intellectual disability
by Pang, Xiuhong and Luo, Huajie and Chai, Yongchuan and Wang, Xiaowen and Sun, Lianhua and He, Longxia and Chen, Penghui and Wu, Hao and Yang, Tao
PLoS ONE, ISSN 1932-6203, 03/2015, Volume 10, Issue 3, p. e0120816
Microdeletions in chromosome 17q22, where the NOG gene resides, have been reported leading to the NOG-related symphalangism spectrum disorder (NOG-SSD),... 
CONDUCTIVE HEARING-LOSS | CELLS | DGKE | GENE | MULTIDISCIPLINARY SCIENCES | PHENOTYPE | MICE | MUTATIONS | EXPRESSION | DELETION DEL Q21.3Q23 | SPEMANN ORGANIZER | Carpal Bones - abnormalities | Chromosome Deletion | Stapes - abnormalities | Tarsal Bones - abnormalities | Humans | Foot Deformities, Congenital - genetics | Genotype | Male | Comparative Genomic Hybridization - methods | Mutation - genetics | Synostosis - genetics | Chromosomes, Human, Pair 17 - genetics | Intellectual Disability - genetics | Phenotype | Hand Deformities, Congenital - genetics | Pedigree | Adult | Female | Heterozygote | Child | Real-Time Polymerase Chain Reaction | Abnormalities, Multiple - genetics | Cytogenetics | Fibroblast growth factors | Nucleotide sequencing | Comparative analysis | DNA sequencing | Laboratories | Identification methods | Fibroblast growth factor receptor 9 | Intellectual disabilities | Genes | Families & family life | Otolaryngology | Single-nucleotide polymorphism | Hybridization | NOG gene | Gene sequencing | Proteins | Genotype & phenotype | Surgery | Symphalangia | Chromosomes | Chromosome 17 | Deoxyribonucleic acid--DNA | Breakpoints | Congenital diseases | Strabismus | Abnormalities | Hearing impairment | Hearing loss | Heterozygosity | Polymerase chain reaction | Medicine | Genotyping | Loss of heterozygosity | Growth differentiation factor 5 | Mutation | Deoxyribonucleic acid | DNA
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6. Oligodactyly with Thumb
by Baek, Goo Hyun and Kim, Jihyeung
The journal of hand surgery Asian-Pacific volume, 10/2016, Volume 21, Issue 3, pp. 283 - 291
Oligodactyly | Hand | Ulnar longitudinal deficiency | Thumb | Central deficiency
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7. Full Text Molecular and clinical delineation of the 17q22 microdeletion phenotype
by Laurell, Tobias and Lundin, Johanna and Anderlid, Britt-Marie and Gorski, Jerome L and Grigelioniene, Giedre and Knight, Samantha J.L and Krepischi, Ana C.V and Nordenskjöld, Agneta and Price, Susan M and Rosenberg, Carla and Turnpenny, Peter D and Vianna-Morgante, Angela M and Nordgren, Ann
European Journal of Human Genetics, ISSN 1018-4813, 10/2013, Volume 21, Issue 10, pp. 1085 - 1092
Deletions involving 17q21-q24 have been identified previously to result in two clinically recognizable contiguous gene deletion syndromes: 17q21.31 and... 
17q22 microdeletion | NOG | array-CGH | NOVO INTERSTITIAL DELETION | SYMPHALANGISM | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENE-ENCODING NOGGIN | SKELETAL ANOMALIES | HEARING-LOSS | DEL Q21.3Q23 | GENETICS & HEREDITY | STAPES ANKYLOSIS | MULTIPLE-SYNOSTOSIS SYNDROME | MUTATIONS | HEAD CIRCUMFERENCE | Chromosome Deletion | Humans | Open Reading Frames | Infant | Male | Genetic Loci | Chromosomes, Human, Pair 17 - genetics | Syndrome | Intellectual Disability - genetics | Carrier Proteins - genetics | Phenotype | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Adolescent | Adult | Female | Child | Abnormalities, Multiple - genetics | Phenotypes | Genomics | Genes | Attention deficit hyperactivity disorder | Hybridization | Noggin protein | Gene deletion | Hearing impairment | Patients | Hearing loss | Proteins | Medicine | Hearing | Hospitals | Clonal deletion | Surgery | Ear | Genetics | Mutation | Symphalangia | Chromosomes | Chromosome 17 | Medicinsk genetik | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
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8. Full Text Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis
by Usami, S and Abe, S and Nishio, S and Sakurai, Y and Kojima, H and Tono, T and Suzuki, N
Clinical Genetics, ISSN 0009-9163, 12/2012, Volume 82, Issue 6, pp. 514 - 520
Usami S, Abe S, Nishio S, Sakurai Y, Kojima H, Tono T, Suzuki N. Mutations in the NOG gene are commonly found in congenital stapes ankylosis with... 
stapes ankylosis with broad | Teunissen and Cremer syndrome | stapes ankylosis | otosclerosis | symphalangism | SYM1 | thumb and toes | Stapes ankylosis | Thumb and toes | Symphalangism | Stapes ankylosis with broad | Otosclerosis | FACIOAUDIOSYMPHALANGISM SYNDROME | CARPAL | TARSAL | FEATURES | CONDUCTIVE HEARING-LOSS | PROXIMAL SYMPHALANGISM | GROWTH | GENETICS & HEREDITY | TEUNISSEN-CREMERS-SYNDROME | MULTIPLE-SYNOSTOSIS SYNDROME | ENCODING NOGGIN | Stapes - abnormalities | Tarsal Bones - abnormalities | Humans | Middle Aged | Asian Continental Ancestry Group - genetics | Male | DNA Primers - genetics | Syndactyly - pathology | Ankylosis - genetics | Hyperopia - genetics | Thumb - pathology | Polymerase Chain Reaction | Adult | Female | Otosclerosis - genetics | Toes - pathology | Hyperopia - pathology | Ankylosis - pathology | Carpal Bones - abnormalities | Genetic Predisposition to Disease - genetics | Joint Diseases - pathology | Synostosis | Joint Diseases - genetics | Foot Deformities, Congenital | Hearing Loss, Conductive - pathology | Joint Diseases - congenital | Mutation - genetics | Sequence Analysis, DNA | Finger Joint - pathology | Carrier Proteins - genetics | Hand Deformities, Congenital | Phenotype | Pedigree | Hearing Loss, Conductive - genetics | Aged | Thumb - abnormalities | Toes - abnormalities | Finger Joint - abnormalities | Stapes - pathology | Syndactyly - genetics | Medical colleges | Cysteine | Anopheles | Genetic disorders | Codon | Analysis | Genes | Genetic research | Genetic aspects | Genetic screening | Genotype & phenotype | Ears & hearing | Skeletal system | Congenital diseases | Mutation | Literature reviews | Ankylosis | Surgery | Dysostosis | Noggin protein | Symphalangia | NOG gene | Original
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9. Bilateral macrodystrophia lipomatosa with syndactyly: a case report and literature review
by Albright, Steven B and Wolfswinkel, Erik M and Caceres, Kevin J and Weathers, William M and Hollier Jr, Larry H
Hand surgery : an international journal devoted to hand and upper limb surgery and related research : journal of the Asia-Pacific Federation of Societies for Surgery of the Hand, 2013, Volume 18, Issue 2, pp. 267 - 272
Macrodystrophia lipomatosa is a rare, non-hereditary form of congenital local gigantism characterised by enlargement and hypertrophy of all mesenchymal tissue... 
Diagnosis, Differential | Follow-Up Studies | Humans | Lipomatosis - congenital | Orthopedic Procedures - methods | Abnormalities, Multiple | Male | Gigantism - congenital | Young Adult | Magnetic Resonance Imaging | Fingers - surgery | Lipomatosis - diagnosis | Fingers - abnormalities | Syndactyly - diagnosis
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