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
2001 1
2004 1
2021 1
2022 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

3 results

Results by year

Filters applied: . Clear all
Page 1
Clinical presentation and analysis of genotype-phenotype correlations in patients with malignant infantile osteopetrosis.
Even-Or E, Schiesel G, Simanovsky N, NaserEddin A, Zaidman I, Elpeleg O, Mor-Shaked H, Stepensky P. Even-Or E, et al. Bone. 2022 Jan;154:116229. doi: 10.1016/j.bone.2021.116229. Epub 2021 Oct 8. Bone. 2022. PMID: 34624559
Malignant infantile osteopetrosis (MIOP) is the autosomal recessive, severe form of osteopetrosis. ...The most common genetic mutation was in the TCIRG1 gene (n = 46, 56.8%), followed by SNX10 (n = 20, 25%). Other genetic mutations included RANK (n = …
Malignant infantile osteopetrosis (MIOP) is the autosomal recessive, severe form of osteopetrosis. ...The most c …
Osteopetrosis: a single centre experience of stem cell tranisplantation and prenatal diagnosis.
Kapelushnik J, Shalev C, Yaniv I, Aker M, Carmi R, Cohen Z, Mozer A, Schulman C, Stein G, Or R. Kapelushnik J, et al. Bone Marrow Transplant. 2001 Jan;27(2):129-32. doi: 10.1038/sj.bmt.1702743. Bone Marrow Transplant. 2001. PMID: 11281380
Malignant osteopetrosis (MOP) is an autosomal recessive disease in which osteoclast dysfunction results in excessive bone deposition and early infant death. ...In the other case the parents refused and after establishing the diagnosis, the newborn was transpl …
Malignant osteopetrosis (MOP) is an autosomal recessive disease in which osteoclast dysfunction results in excessive bo …
Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation.
Shah GN, Bonapace G, Hu PY, Strisciuglio P, Sly WS. Shah GN, et al. Hum Mutat. 2004 Sep;24(3):272. doi: 10.1002/humu.9266. Hum Mutat. 2004. PMID: 15300855
The carbonic anhydrase II (CA II) deficiency syndrome is an autosomal recessive disorder that produces osteopetrosis, renal tubular acidosis, and cerebral calcification. Other features include developmental delay, short stature, cognitive defects, and a histo …
The carbonic anhydrase II (CA II) deficiency syndrome is an autosomal recessive disorder that produces osteopetrosis, r …