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
1969 1
1971 1
1972 1
1973 3
1974 4
1975 2
1976 6
1977 6
1978 3
1979 1
1980 5
1981 4
1982 1
1983 3
1984 4
1985 6
1986 8
1987 2
1988 7
1989 8
1990 3
1991 1
1992 3
1993 4
1994 9
1995 9
1996 9
1997 3
1998 8
1999 4
2000 4
2001 7
2002 2
2003 3
2004 3
2005 3
2006 3
2007 4
2008 9
2009 3
2010 5
2011 2
2012 1
2013 4
2014 2
2015 6
2016 1
2017 1
2018 7
2019 12
2020 10
2021 10
2022 5
2023 4
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

223 results

Results by year

Filters applied: . Clear all
Page 1
Osteogenesis Imperfecta.
Marini JC, Dang Do AN. Marini JC, et al. 2020 Jul 26. In: Feingold KR, Anawalt B, Blackman MR, Boyce A, Chrousos G, Corpas E, de Herder WW, Dhatariya K, Dungan K, Hofland J, Kalra S, Kaltsas G, Kapoor N, Koch C, Kopp P, Korbonits M, Kovacs CS, Kuohung W, Laferrère B, Levy M, McGee EA, McLachlan R, New M, Purnell J, Sahay R, Shah AS, Singer F, Sperling MA, Stratakis CA, Trence DL, Wilson DP, editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000–. 2020 Jul 26. In: Feingold KR, Anawalt B, Blackman MR, Boyce A, Chrousos G, Corpas E, de Herder WW, Dhatariya K, Dungan K, Hofland J, Kalra S, Kaltsas G, Kapoor N, Koch C, Kopp P, Korbonits M, Kovacs CS, Kuohung W, Laferrère B, Levy M, McGee EA, McLachlan R, New M, Purnell J, Sahay R, Shah AS, Singer F, Sperling MA, Stratakis CA, Trence DL, Wilson DP, editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000–. PMID: 25905334 Free Books & Documents. Review.
Differential diagnosis (child maltreatment, thanatophoric dysplasia, achondrogenesis type I, campomelic dysplasia, hypophosphatasia, osteoporosis) varies with patient age and OI severity. ...
Differential diagnosis (child maltreatment, thanatophoric dysplasia, achondrogenesis type I, campomelic dysplasia, hypophosphatasia, …
Lethal and life-limiting skeletal dysplasias: Selected prenatal issues.
Stembalska A, Dudarewicz L, Śmigiel R. Stembalska A, et al. Adv Clin Exp Med. 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166. Adv Clin Exp Med. 2021. PMID: 34019743 Free article. Review.
The prenatal features of the most common skeletal dysplasias, such as thanatophoric dysplasia, osteogenesis imperfecta type II, achondrogenesis, and campomelic dysplasia, are discussed in this article. ...
The prenatal features of the most common skeletal dysplasias, such as thanatophoric dysplasia, osteogenesis imperfecta type II, achondrog …
Achondrogenesis Type 1B.
Unger S, Superti-Furga A. Unger S, et al. 2002 Aug 30 [updated 2023 Mar 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2002 Aug 30 [updated 2023 Mar 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301689 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Clinical features of achondrogenesis type 1B (ACG1B) include extremely short limbs with short fingers and toes, hypoplasia of the thorax, protuberant abdomen, and hydropic fetal appearance caused by the abundance of soft tissue relative to the sho …
CLINICAL CHARACTERISTICS: Clinical features of achondrogenesis type 1B (ACG1B) include extremely short limbs with short fingers and t …
Sulphate in pregnancy.
Dawson PA, Elliott A, Bowling FG. Dawson PA, et al. Nutrients. 2015 Mar 4;7(3):1594-606. doi: 10.3390/nu7031594. Nutrients. 2015. PMID: 25746011 Free PMC article. Review.
In humans, reduced sulphonation capacity has been linked to skeletal dysplasias, ranging from the mildest form, multiple epiphyseal dysplasia, to achondrogenesis Type IB, which results in severe skeletal underdevelopment and death in utero or shortly after birth. ...
In humans, reduced sulphonation capacity has been linked to skeletal dysplasias, ranging from the mildest form, multiple epiphyseal dysplasi …
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 common. Skeletal …
Thanatophoric dysplasia and osteogenesis imperfecta represent approximately half of the cases coming to autopsy. Achondrogenesis type …
Achondrogenesis Type 2 in a Newborn with a Novel Mutation on the COL2A1 Gene.
Dogan P, Varal IG, Gorukmez O, Akkurt MO, Akdag A. Dogan P, et al. Balkan J Med Genet. 2019 Aug 28;22(1):89-94. doi: 10.2478/bjmg-2019-0001. eCollection 2019 Jun. Balkan J Med Genet. 2019. PMID: 31523626 Free PMC article.
Achondrogenesis is a group of rare and fatal disorders occurring in approximately one in every 40,000-60,000 newborns. Achondrogenesis is classified in three groups, as Achondrogenesis type 1A (Houston-Harris type or AC-G1A), Achondrogenesis type 1B (P …
Achondrogenesis is a group of rare and fatal disorders occurring in approximately one in every 40,000-60,000 newborns. Achondrogen …
Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives.
Offiah AC, Vockley J, Munns CF, Murotsuki J. Offiah AC, et al. Pediatr Radiol. 2019 Jan;49(1):3-22. doi: 10.1007/s00247-018-4239-0. Epub 2018 Oct 3. Pediatr Radiol. 2019. PMID: 30284005 Free PMC article. Review.
This review focuses on the role of fetal and neonatal imaging modalities in the differential diagnosis of perinatal HPP from other skeletal dysplasias (e.g., osteogenesis imperfecta, campomelic dysplasia, achondrogenesis subtypes, hypochondrogenesis, cleidocranial dysplasi …
This review focuses on the role of fetal and neonatal imaging modalities in the differential diagnosis of perinatal HPP from other skeletal …
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 Dysplasia: A Case Report.
Gică N, Mîrza G, Gică C, Panaitescu AM, Ciobanu AM, Peltecu G, Huluță I. Gică N, et al. Diagnostics (Basel). 2023 Sep 11;13(18):2905. doi: 10.3390/diagnostics13182905. Diagnostics (Basel). 2023. PMID: 37761271 Free PMC article.
The fetal ultrasound revealed severe skeletal anomalies, craniofacial deformities, and thoracic abnormalities, suggesting a complex and severe skeletal dysplasia, potentially type IA Achondrogenesis-a lethal autosomal recessive condition marked by ossification delay. ...Th …
The fetal ultrasound revealed severe skeletal anomalies, craniofacial deformities, and thoracic abnormalities, suggesting a complex and seve …
Type II Collagen Disorders Overview.
Gregersen PA, Savarirayan R. Gregersen PA, et al. 2019 Apr 25. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2019 Apr 25. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 31021589 Free Books & Documents. Review.
223 results