Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1994 1
1996 1
1997 1
1998 1
2005 1
2010 1
2011 1
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

8 results

Results by year

Filters applied: . Clear all
Page 1
Atelosteogenesis type 2.
Newbury-Ecob R. Newbury-Ecob R. J Med Genet. 1998 Jan;35(1):49-53. doi: 10.1136/jmg.35.1.49. J Med Genet. 1998. PMID: 9475095 Free PMC article. Review.
Atelosteogenesis type 2 (AO2) (MIM 256050) is a neonatally lethal chondrodysplasia characterised by severe limb shortening and deficient ossification of parts of the skeleton. ...
Atelosteogenesis type 2 (AO2) (MIM 256050) is a neonatally lethal chondrodysplasia characterised by severe limb shorten …
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.
Dwyer E, Hyland J, Modaff P, Pauli RM. Dwyer E, et al. Am J Med Genet A. 2010 Dec;152A(12):3043-50. doi: 10.1002/ajmg.a.33736. Am J Med Genet A. 2010. PMID: 21077202 Review.
In decreasing order of severity, they include processes designated as achondrogenesis type IB (ACG-1B), atelosteogenesis type II (AO2), diastrophic dysplasia (DTD), diastrophic dysplasia variant (DTDv), and recessively inherited multiple epiphyseal dysplasia …
In decreasing order of severity, they include processes designated as achondrogenesis type IB (ACG-1B), atelosteogenesis type …
Sulfate in fetal development.
Dawson PA. Dawson PA. Semin Cell Dev Biol. 2011 Aug;22(6):653-9. doi: 10.1016/j.semcdb.2011.03.004. Epub 2011 Mar 17. Semin Cell Dev Biol. 2011. PMID: 21419855 Review.
In addition, sulfonation of proteoglycans is important for maintaining normal structure and development of tissues, as shown for reduced sulfonation of cartilage proteoglycans that leads to developmental dwarfism disorders and four different osteochondrodysplasias (diastrophic dy …
In addition, sulfonation of proteoglycans is important for maintaining normal structure and development of tissues, as shown for reduced sul …
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.
Skeletal dysplasias with autosomal recessive inheritance are the least frequent, e.g. perinatally lethal hypophophatasia, achondrogenesis type 1A, diastrophic dysplasia/atelosteogenesis type 2 or mucolipidosis type 2 (I cell disease)....
Skeletal dysplasias with autosomal recessive inheritance are the least frequent, e.g. perinatally lethal hypophophatasia, achondrogenesis ty …
Atelosteogenesis syndromes: a review, with comments on their pathogenesis.
Sillence D, Worthington S, Dixon J, Osborn R, Kozlowski K. Sillence D, et al. Pediatr Radiol. 1997 May;27(5):388-96. doi: 10.1007/s002470050154. Pediatr Radiol. 1997. PMID: 9133349 Review.
A marked excess of male fetuses with boomerang dysplasia was observed. Atelosteogenesis type II shows distinctive chondro-osseous histopathology with a major disturbance in cartilage matrix macromolecules. An overlap of phenotypic, radiographic, morphological …
A marked excess of male fetuses with boomerang dysplasia was observed. Atelosteogenesis type II shows distinctive chond …
De la Chapelle dysplasia (atelosteogenesis type II): case report and review of the literature [corrected].
Schrander-Stumpel C, Havenith M, Linden EV, Maertzdorf W, Offermans J, van der Harten J. Schrander-Stumpel C, et al. Clin Dysmorphol. 1994 Oct;3(4):318-27. Clin Dysmorphol. 1994. PMID: 7632220 Review.
We report a male infant with de la Chapelle dysplasia (atelosteogenesis type II), a skeletal dysplasia characterized by severe shortening of the long bones, deficient ossification of distinct parts of the skeleton, cleft palate and neonatal death from asphyxi …
We report a male infant with de la Chapelle dysplasia (atelosteogenesis type II), a skeletal dysplasia characterized by …
Pathogenetics of the human SLC26 transporters.
Dawson PA, Markovich D. Dawson PA, et al. Curr Med Chem. 2005;12(4):385-96. doi: 10.2174/0929867053363144. Curr Med Chem. 2005. PMID: 15720248 Review.
Special interest has focused on four members of the SLC26 family that are associated with distinct recessive diseases: (i) Mutations in SLC26A2 lead to four different chondrodysplasias (diastrophic dysplasia, atelosteogenesis type II, achondrogenesis type IB …
Special interest has focused on four members of the SLC26 family that are associated with distinct recessive diseases: (i) Mutations in SLC2 …
A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations.
Superti-Furga A, Rossi A, Steinmann B, Gitzelmann R. Superti-Furga A, et al. Am J Med Genet. 1996 May 3;63(1):144-7. doi: 10.1002/(SICI)1096-8628(19960503)63:1<144::AID-AJMG25>3.0.CO;2-N. Am J Med Genet. 1996. PMID: 8723100 Review.
Achondrogenesis type 1B (ACG-1B), atelosteogenesis type 2 (AO-2), and diastrophic dysplasia (DTD) are recessively inherited chondrodysplasias of decreasing severity caused by mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene on chromosom …
Achondrogenesis type 1B (ACG-1B), atelosteogenesis type 2 (AO-2), and diastrophic dysplasia (DTD) are recessively inher …