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Achondrogenesis: a review with special consideration of achondrogenesis type II (Langer-Saldino).
Chen H, Liu CT, Yang SS. Chen H, et al. Am J Med Genet. 1981;10(4):379-94. doi: 10.1002/ajmg.1320100411. Am J Med Genet. 1981. PMID: 7036745 Review.
Radiographic and morphologic characteristics identified the Langer-Saldino form of achondrogenesis (type II). Review of type II achondrogenesis documented distinctive clinical and anthropometric manifestations (fewer stillbirths, longer survival time and gest …
Radiographic and morphologic characteristics identified the Langer-Saldino form of achondrogenesis (type II). Review of …
Achondrogenesis type I: delineation of further heterogeneity and identification of two distinct subgroups.
Borochowitz Z, Lachman R, Adomian GE, Spear G, Jones K, Rimoin DL. Borochowitz Z, et al. J Pediatr. 1988 Jan;112(1):23-31. doi: 10.1016/s0022-3476(88)80113-6. J Pediatr. 1988. PMID: 3275766 Review.
., and type IB, which corresponds to the case originally published by Fraccaro. Analysis of Parenti's case suggests the diagnosis of achondrogenesis type II. All three types of achondrogenesis appear to be inherited as autosomal recessive traits....
., and type IB, which corresponds to the case originally published by Fraccaro. Analysis of Parenti's case suggests the diagnosis of acho
Skeletal dysplasias of the fetus and infant: comprehensive review and our experience over a 10-year period.
Ježová M, Pavlovská D, Grochová I, Michenková A, Vlašín P. Ježová M, et al. Cesk Patol. 2023 Summer;59(2):68-79. Cesk Patol. 2023. PMID: 37468326 Review. English.
Thanatophoric dysplasia and osteogenesis imperfecta represent approximately half of the cases coming to autopsy. Achondrogenesis type 2 and hypochondrogenesis, short-rib dysplasia, chondrodysplasia punctata, campomelic dysplasia and achondroplasia are less co …
Thanatophoric dysplasia and osteogenesis imperfecta represent approximately half of the cases coming to autopsy. Achondrogenesis t
Matrix composition of cartilaginous anlagen in achondrogenesis type II (Langer-Saldino).
Dertinger S, Söeder S, Bösch H, Aigner T. Dertinger S, et al. Front Biosci. 2005 Jan 1;10:446-53. doi: 10.2741/1540. Print 2005 Jan 1. Front Biosci. 2005. PMID: 15574381 Review.
Skeletal dysplasias represent in vivo models of genetic defects. Achondrogenesis type II (Langer-Saldino), caused by a genetic defect in the major cartilage matrix protein, collagen type II, is a rare and severe skeletal dysplasia. ...Additionally, a delay in …
Skeletal dysplasias represent in vivo models of genetic defects. Achondrogenesis type II (Langer-Saldino), caused by a …
Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.
Barat-Houari M, Sarrabay G, Gatinois V, Fabre A, Dumont B, Genevieve D, Touitou I. Barat-Houari M, et al. Hum Mutat. 2016 Jan;37(1):7-15. doi: 10.1002/humu.22915. Epub 2015 Oct 21. Hum Mutat. 2016. PMID: 26443184 Review.
These mutations disrupt the collagen triple helix and are common in achondrogenesis type II and hypochondrogenesis. The mutations resulting in a premature stop codon are found in less severe phenotypes such as Stickler syndrome. ...
These mutations disrupt the collagen triple helix and are common in achondrogenesis type II and hypochondrogenesis. The …
Collagen, genes and the skeletal dysplasias on the edge of a new era: a review and update.
Lachman RS, Tiller GE, Graham JM Jr, Rimoin DL. Lachman RS, et al. Eur J Radiol. 1992 Jan-Feb;14(1):1-10. doi: 10.1016/0720-048x(92)90052-b. Eur J Radiol. 1992. PMID: 1563395 Review.
The only known type I collagen defects producing skeletal dysplasias--osteogenesis imperfecta, as well as the 'family' of established type II collagen disorders--achondrogenesis type II, hypochondrogenesis and spondyloepiphyseal dysplasia congenita are discus …
The only known type I collagen defects producing skeletal dysplasias--osteogenesis imperfecta, as well as the 'family' of established type I …
[Osteochondrodysplasia determined genetically by a collagen type II gene mutation].
Czarny-Ratajczak M, Rogala P, Wolnik-Brzozowska D, Latos-Bieleńska A. Czarny-Ratajczak M, et al. Chir Narzadow Ruchu Ortop Pol. 2001;66(1):79-86. Chir Narzadow Ruchu Ortop Pol. 2001. PMID: 11481990 Review. Polish.
Type II collagenopathies form a wide spectrum of clinical severity ranging from lethal achondrogenesis type II, hypochondrogenesis, through severe forms like spondyloepiphyseal dysplasia congenita, spondyloepimetaphyseal dysplasia congenita, Marshall syndrome …
Type II collagenopathies form a wide spectrum of clinical severity ranging from lethal achondrogenesis type II, hypocho …