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Quoted phrase not found in phrase index: "Complex lethal osteochondrodysplasia"
Page 1
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.
Aubert-Mucca M, Huber C, Baujat G, Michot C, Zarhrate M, Bras M, Boutaud L, Malan V, Attie-Bitach T; Clinical Contributors; Cormier-Daire V. Aubert-Mucca M, et al. J Med Genet. 2023 Apr;60(4):337-345. doi: 10.1136/jmg-2022-108435. Epub 2022 Aug 4. J Med Genet. 2023. PMID: 35927022
Major signs are ectodermal dysplasia, chondrodysplasia, polydactyly and congenital cardiopathy, with a high degree of variability in phenotypes ranging from lethal to mild clinical presentations. The EVC and EVC2 genes are the major genes causative of EVC syndrome. However …
Major signs are ectodermal dysplasia, chondrodysplasia, polydactyly and congenital cardiopathy, with a high degree of variability in phenoty …
Reproductive options for families at risk of Osteogenesis Imperfecta: a review.
Zhytnik L, Simm K, Salumets A, Peters M, Märtson A, Maasalu K. Zhytnik L, et al. Orphanet J Rare Dis. 2020 May 27;15(1):128. doi: 10.1186/s13023-020-01404-w. Orphanet J Rare Dis. 2020. PMID: 32460820 Free PMC article. Review.
Pathogenic variants in more than 20 different genes can lead to OI, and phenotypes can range from mild to lethal forms. As a genetic disorder which undoubtedly affects quality of life, OI significantly alters the reproductive confidence of families at risk. ...These are pr …
Pathogenic variants in more than 20 different genes can lead to OI, and phenotypes can range from mild to lethal forms. As a genetic …
Changes in the law on abortion.
Hall MH. Hall MH. BMJ. 1990 Nov 17;301(6761):1109-10. doi: 10.1136/bmj.301.6761.1109. BMJ. 1990. PMID: 2252917 Free PMC article.
The 24-week limit is not, however, applicable when the mother is a risk of grave permanent injury or death, or in the case of substantial risk of serious handicap in the child. 3rd-trimester abortion rates will not change in the former cases, while the latter involve more comp …
The 24-week limit is not, however, applicable when the mother is a risk of grave permanent injury or death, or in the case of substantial ri …
The lethal chondrodysplasias.
Maroteaux P, Stanescu V, Stanescu R. Maroteaux P, et al. Clin Orthop Relat Res. 1976 Jan-Feb;(114):31-45. Clin Orthop Relat Res. 1976. PMID: 1261128
The lethal chondrodysplasias are a complex group of diseases of which little is known. Three disorders have been well characterized; achondrogenesis, thanatophoric dwarfism, and the lethal chondrodysplasias with polydactyly. Pathological studies of epiphyseal …
The lethal chondrodysplasias are a complex group of diseases of which little is known. Three disorders have been well characte …
Local amino acid sequence patterns dominate the heterogeneous phenotype for the collagen connective tissue disease Osteogenesis Imperfecta resulting from Gly mutations.
Xiao J, Yang Z, Sun X, Addabbo R, Baum J. Xiao J, et al. J Struct Biol. 2015 Oct;192(1):127-37. doi: 10.1016/j.jsb.2015.05.002. Epub 2015 May 15. J Struct Biol. 2015. PMID: 25980613 Free PMC article.
We show that different Gly X mutations have different local sequence patterns that are correlated with lethal and nonlethal phenotypes providing a mechanism for understanding the sensitivity of local context in defining lethal and non-lethal OI. ...The analys …
We show that different Gly X mutations have different local sequence patterns that are correlated with lethal and nonlethal phenotype …
Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype.
Ferrer A, Starosta RT, Ranatunga W, Ungar D, Kozicz T, Klee E, Rust LM, Wick M, Morava E. Ferrer A, et al. Mol Genet Metab. 2020 Dec;131(4):424-429. doi: 10.1016/j.ymgme.2020.11.003. Epub 2020 Nov 7. Mol Genet Metab. 2020. PMID: 33187827
ICAM-1, LAMP2, ALG3 and COG5 levels were decreased in cultured amniocytes, suggesting the possible involvement of both genes in the complex phenotype. CONCLUSION: This is the first case of successful use of glycosylated biomarkers in amniocytes, providing further options o …
ICAM-1, LAMP2, ALG3 and COG5 levels were decreased in cultured amniocytes, suggesting the possible involvement of both genes in the compl …
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.
Dagoneau N, Goulet M, Geneviève D, Sznajer Y, Martinovic J, Smithson S, Huber C, Baujat G, Flori E, Tecco L, Cavalcanti D, Delezoide AL, Serre V, Le Merrer M, Munnich A, Cormier-Daire V. Dagoneau N, et al. Am J Hum Genet. 2009 May;84(5):706-11. doi: 10.1016/j.ajhg.2009.04.016. Am J Hum Genet. 2009. PMID: 19442771 Free PMC article.
ATD is closely related to the short rib polydactyly syndrome (SRP) type III, which is a more severe condition characterized by early prenatal expression and lethality and variable malformations. We first excluded IFT80 in a series of 26 fetuses and children belonging to 14 …
ATD is closely related to the short rib polydactyly syndrome (SRP) type III, which is a more severe condition characterized by early prenata …
Brain malformation with loss of normal FGFR3 expression in thanatophoric dysplasia type I.
Itoh K, Pooh R, Kanemura Y, Yamasaki M, Fushiki S. Itoh K, et al. Neuropathology. 2013 Dec;33(6):663-6. doi: 10.1111/neup.12036. Epub 2013 Apr 1. Neuropathology. 2013. PMID: 23551494
Thanatophoric dysplasia is a lethal form of chondrodysplastic dwarfism in which the cerebral cortex displays a unique and complex malformation. ...
Thanatophoric dysplasia is a lethal form of chondrodysplastic dwarfism in which the cerebral cortex displays a unique and complex …
Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively.
Keller RB, Tran TT, Pyott SM, Pepin MG, Savarirayan R, McGillivray G, Nickerson DA, Bamshad MJ, Byers PH. Keller RB, et al. Genet Med. 2018 Apr;20(4):411-419. doi: 10.1038/gim.2017.115. Epub 2017 Aug 17. Genet Med. 2018. PMID: 28817112 Free PMC article.
The variant caused a prenatal/perinatal lethal OI in homozygotes, similar to that seen in OI type II as a result of mutations in type I collagen genes, and a mild phenotype (fractures, blue sclerae) in multiple heterozygous family members. ...The variant disrupts a DNA-bin …
The variant caused a prenatal/perinatal lethal OI in homozygotes, similar to that seen in OI type II as a result of mutations in type …
Collagen Gly missense mutations: Effect of residue identity on collagen structure and integrin binding.
Qiu Y, Mekkat A, Yu H, Yigit S, Hamaia S, Farndale RW, Kaplan DL, Lin YS, Brodsky B. Qiu Y, et al. J Struct Biol. 2018 Sep;203(3):255-262. doi: 10.1016/j.jsb.2018.05.003. Epub 2018 May 11. J Struct Biol. 2018. PMID: 29758270 Free PMC article.
The clinical consequences of such mutations range from mild to lethal, with more serious clinical severity associated with larger Gly replacement residues. ...These computational and experimental results lend insight into the complex molecular basis of the varying c …
The clinical consequences of such mutations range from mild to lethal, with more serious clinical severity associated with larger Gly …
19 results