Results 351 to 360 of about 2,935,673 (409)

Opportunistic assessment of bone mineral density in cystic fibrosis patients using ultra-low dose thoracic CT. [PDF]

Arch Osteoporos
Shet S, Henry C, O'Donnell M, Kakish E, Ghauri M, O'Regan P, Deasy K, Ibrahim H, Maher M, Plant B, Ryan DJ.   +10 more
europepmc   +1 more source

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

The association between coffee intake and femoral neck bone mineral density based on the NHANES and Mendelian randomisation study. [PDF]

J Nutr Sci
Wang K, Huang G, Liu Y, Zhang B, Qian D, Pei B.   +5 more
europepmc   +1 more source

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher, Orli Greenberg, Patrick Shannon, Andrea Staines, Bobbi McGivern, Melanie Patricia Napier, David Chitayat   +6 more
wiley   +1 more source

Bone Mineral Density (BMD) Assessment Using Dual-Energy CT with Different Base Material Pairs (BMPs). [PDF]

J Imaging
Piscone S, Saccone S, Milillo P, Schiraldi G, Vinci R, Macarini L, Stoppino LP.   +6 more
europepmc   +1 more source

Further Evidence That Chondrocalcinosis 1 (CCAL1) is a Confirmed Mendelian Phenotype With a Known Molecular Basis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Chondrocalcinosis (CCAL), also known as calcium pyrophosphate dihydrate deposition disease (CPPDD), is a frequent multifactorial condition in the elderly, but there are two rare autosomal dominant Mendelian forms, CCAL1 (OMIM %600668) and CCAL2. Only three families with molecularly proven CCAL1 have been reported.
Anna‐Christina Pansa, Mareike Selig, Markus Wingendorf, Matthew A. Brown, Oliver Bartsch   +4 more
wiley   +1 more source

Exonic Variation and Its Clinical Impact in 7221 Old Order Amish

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the
Braxton D. Mitchell, Ebuka Onyenobi, Joshua P. Lewis, Brady Gaynor, James A. Perry, Kristin Maloney, Jeffrey R. O'Connell, Jessica Tiner, Amber L. Beitelshees, Cristopher V. Van Hout, Patrick F. McArdle, Huichun Xu, Erik G. Puffenberger, Karlla W. Brigatti, Melanie Daue, Hilary B. Whitlatch, Anna Alkelai, Alejandro A. Schäffer, John Overton, Elizabeth A. Streeten, Toni I. Pollin, Alan R. Shuldiner   +21 more
wiley   +1 more source

Biocompatibility and healing patterns in experimentally induced canine tibial fractures using Pedicle screw‐Rod external fixation

Animal Models and Experimental Medicine, EarlyView.
This study demonstrates that using a Pedicle screw‐Rod configuration for the external fixation of non‐articular tibial osteotomy aligns well with the principles of biological osteosynthesis, resulting in secondary bone healing characterized by callus formation and neovascularization.
Mohammad Mahdi Gooran, Ramin Mazaheri‐Khameneh, Seyed Mohammad Hashemi‐Asl, Rahim Hobbenaghi   +3 more
wiley   +1 more source

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BONE MINERALIZATION AND BONE MINERAL CONTENT IN PRIMARY HYPERPARATHYROIDISM

Acta Endocrinologica, 1977
ABSTRACT The degree of bone mineralization and the bone mineral content (BMC) was evaluated in 6 patients with primary hyperparathyroidism. The degree of bone mineralization was estimated as the phosphorus/hydroxyproline ratio (P/Hypro) in bone biopsies; BMC was estimated by photon absorptiometry on both forearms.
Jørn Ditzel, Paul Rødbro, Lars Tougaard, Christian Hau   +3 more
openaire   +3 more sources

Mineral evolution of bone

Biomaterials, 1996
A study on the evolution with age of the mineral composition of bones was performed on samples belonging to human and other common mammalian species (cattle, sheep, dog). The study was carried out on the ashes obtained by calcination of the bone samples (1 h at 900 degrees C).
Antonio Ravaglioli, B. Bacchini, L. Piombi, Adriano Krajewski, Andreana Piancastelli, Giancarlo Celotti, G. Zama, L. Montanari   +7 more
openaire   +3 more sources