Results 61 to 70 of about 1,610 (176)

Osteochondrodysplasia: A Heritable Disorder

, 2019
{"references": ["1. Krakow D1, Alanay Y, Rimoin LP, Lin V, Wilcox WR,", "Lachman RS, et al. Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis. Am J Med Genet A. 2008 Aug 1;146A(15):1917-24. 2. Krakow D, Lachman RS, Rimoin DL.
Saurabh Mishra,, GS Rai
openaire   +1 more source

The Skeletal Dysplasias

, 2007
The skeletal dysplasias or osteochondrodysplasias are a clinically and genetically heterogeneous group of disorders of bone and/or cartilage. They are characterized by abnormalities in pattering, linear growth, differentiation, and maintenance of the ...
WILLIAM WILCOX, Cohn, Daniel, Rimoin, David L., DEBORAH KRAKOW, DANIEL COHN, DAVID L. RIMOIN, RALPH S. LACHMAN, YASEMIN ALANAY, Wilcox, William, ALANAY, Yasemin, Lachman, Ralph S., Krakow, Deborah   +11 more
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The human α2(XI) collagen gene (COL1 1A2): Completion of coding information, identification of the promoter sequence, and precise localization within the major histocompatibility complex reveal overlap with the KE5 gene

, 1996
Type XI collagen, a fibril-forming collagen, is important for the integrity and development of the skeleton because mutations in the genes encoding its consituent α chains have been found in some osteochondrodysplasias.
Ng, LJ, Sat, EWY, Lui, VCH, Cheah, KSE
core   +1 more source

Experience of a skeletal dysplasia registry in Turkey: A five‐years retrospective analysis

, 2015
This study shares data on 417 patients with genetic disorders of skeleton including 10 fetal autopsies encountered in a 5-year period at a tertiary university hospital in Ankara, Turkey.
Pelin Ozlem Simsek‐Kiper, Simsek-Kiper, Pelin Ozlem, Eda Didem Kurt‐Sukur, Kurt-Sukur, EDA DİDEM, Koray Boduroglu, Boduroglu, Koray, Yasemin Alanay, Gülen Eda Utine, ÜTİNE, GÜLEN EDA, Alanay, YASEMİN   +9 more
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Am J Hum Genet

, 2003
Although disorders of the skeleton are individually rare, they are of clinical relevance because of their overall frequency. Many attempts have been made in the past to identify disease groups in order to facilitate diagnosis and to draw conclusions ...
Kornak, U., Mundlos, S.
core  

Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia multiple epiphyseal dysplasia disease spectrum

, 1998
Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are autosomal dominant osteochondrodysplasias that result in mild to severe short-limb dwarfism and early-onset osteoarthrosis.
Golik, Steven S, Briggs, Michael D, De Paepe, Anne, Lachman, Ralph S, Mortier, Geert, Bonaventure, Jacky, Nuytinck, Lieve, Lipson, Mark, King, Lily M, Knowlton, Robert G, Rimoin, David L, Cohn, Daniel H, Cole, Willam G, Leroy, Juliaan, Biesecker, Leslie, Wilcox, William R   +15 more
core  

Abnormal skull findings in neural tube defects [PDF]

, 2009
The human neural tube develops and closes during the third and fourth week after conception and is normally completed by 28 days post-conception. Malformations, knows as neural tube defects, occure, when the normal closure process fails. Several clinical
Cacciatore , Alessandro, Carrara, Sabina, Rapisarda, Giulia, La Galia, Tindara, Recupero , Stefania, Mammaro, Alessia, Accardi, Manuela Chiara, Pedata, Rosa, Imbruglia, Laura, Pappalardo, Elisa Maria   +9 more
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Diastrophic dysplasia: prenatal diagnosis and review of the literature Displasia diastrófica: diagnóstico pré-natal e revisão da literatura

São Paulo Medical Journal, 2013
CONTEXT Diastrophic dysplasia is a type of osteochondrodysplasia caused by homozygous mutation in the gene DTDST (diastrophic dysplasia sulfate transporter gene).
Jonathan Celli Honório, Rafael Frederico Bruns, Luciana Fernandes Gründtner, Salmo Raskin, Lilian Pereira Ferrari, Edward Araujo Júnior, Luciano Marcondes Machado Nardozza   +6 more
doaj  

Bone dysplasia with optic atrophy, vascular malformation and seizures in a 14-year-old girl : a case report [PDF]

, 2007
Background: The heritable skeletal dysplasias or osteochondrodysplasias are a large heterogeneous group of disorders associated with abnormal shape, growth, or integrity of bones. Osteopetrosis is a collective term for a range of sclerosing bone diseases
Gibińska, Joanna, Jamroz, Ewa, Augustyn, Danuta, Kluczewska, Ewa, Kuleta-Bosak, Elżbieta, Głuszkiewicz, Ewa   +5 more
core  

Mutations in two regions of FLNB result in atelosteogenesis I and III

, 2006
The filamins are a family of cytoplasmic proteins that bind to and organize actin filaments, link membrane proteins to the cytoskeleton, and provide a scaffold for signaling molecules.
Cormier-Daire, Valerie, Rimoin, David L., Bacino, Carlos A., Rump, Patrick, Sweeney, Elizabeth, Lachman, Ralph S., Krakow, Deborah E., Robertson, Stephen P., Firestein, Marc H., Superti-Furga, Andrea, Robertson, Stephen, Baumann, Clarisse, Le Merrer, Martine, Verheij, Joke B. G. M., Farrington-Rock, Claire, Bicknell, Louise S., Rump, Patrick; id_orcid, Roume, Joelle, Cohn, Daniel H., Krakow, Deborah, Verheij, Joke B.G.M.   +20 more
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