Page last updated: 2024-08-26

pyridinoline and Abnormalities, Multiple

pyridinoline has been researched along with Abnormalities, Multiple in 2 studies

Research

Studies (2)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	0 (0.00)	18.2507
2000's	1 (50.00)	29.6817
2010's	1 (50.00)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Amberger, A; Baumann, M; Bittner, RE; Bönnemann, CG; Carlier, RY; Cirak, S; Colombi, M; Deutschmann, A; Fauth, C; Giunta, C; Hu, Y; Karall, D; Krabichler, B; Muntoni, F; Quijano-Roy, S; Rohrbach, M; Romero, NB; Rostásy, K; Rüschendorf, F; Schreiber, G; Steinmann, B; Straub, V; Zoppi, N; Zou, Y; Zschocke, J	1
Al-Gazali, LI; Brunner, HG; Giunta, C; Kraenzlin, ME; Randolph, A; Steinmann, B	1

Reviews

1 review(s) available for pyridinoline and Abnormalities, Multiple

Article	Year
Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA). American journal of medical genetics. Part A, 2005, Mar-01, Volume: 133A, Issue:2 Topics: Abnormalities, Multiple; Amino Acids; Collagen Type III; Collagen Type V; Consanguinity; Diagnosis, Differential; Edema; Ehlers-Danlos Syndrome; Electrophoresis, Polyacrylamide Gel; Female; Growth Disorders; Humans; Infant; Kyphosis; Muscle Hypotonia; Mutation; Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase; Syndrome	2005

Article

Year

Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA).

American journal of medical genetics. Part A, 2005, Mar-01, Volume: 133A, Issue:2

Topics: Abnormalities, Multiple; Amino Acids; Collagen Type III; Collagen Type V; Consanguinity; Diagnosis, Differential; Edema; Ehlers-Danlos Syndrome; Electrophoresis, Polyacrylamide Gel; Female; Growth Disorders; Humans; Infant; Kyphosis; Muscle Hypotonia; Mutation; Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase; Syndrome

2005

Other Studies

1 other study(ies) available for pyridinoline and Abnormalities, Multiple

Article	Year
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. American journal of human genetics, 2012, Feb-10, Volume: 90, Issue:2 Topics: Abnormalities, Multiple; Adolescent; Amino Acids; Child; Child, Preschool; cis-trans-Isomerases; Ehlers-Danlos Syndrome; Endoplasmic Reticulum; Extracellular Matrix; Female; Fibroblasts; Frameshift Mutation; Genetic Variation; Hearing Loss; Heterozygote; Homozygote; Humans; Male; Middle Aged; Peptidylprolyl Isomerase; Phenotype; Protein Folding	2012

Article

Year

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.

American journal of human genetics, 2012, Feb-10, Volume: 90, Issue:2

Topics: Abnormalities, Multiple; Adolescent; Amino Acids; Child; Child, Preschool; cis-trans-Isomerases; Ehlers-Danlos Syndrome; Endoplasmic Reticulum; Extracellular Matrix; Female; Fibroblasts; Frameshift Mutation; Genetic Variation; Hearing Loss; Heterozygote; Homozygote; Humans; Male; Middle Aged; Peptidylprolyl Isomerase; Phenotype; Protein Folding

2012