Results 31 to 40 of about 11,312 (165)

Human Chromosome 4 Sequencing And Single Nucleotide Polymorphism (Snp) Analysis Of An Achondroplasia Individual [PDF]

, 2011
Achondroplasia adalah penyebab paling umum kekerdilan manusia yang beranggota pendek dan mempengaruhi seramai 250,000 orang di seluruh ...
Lee , Ling Sze
core   +2 more sources

An overview of current prenatal genetic screening and diagnosis guidelines

Pregnancy, Volume 1, Issue 3, May 2025.
Abstract The landscape of prenatal genetics continues to evolve rapidly, with improvements in processing speed and technology. Clinicians are tasked with staying current with the latest recommendations for prenatal genetic screening and diagnosis in order to provide patient‐centered and evidence‐based care. We present a review of 15 societal guidelines
Carmen M. A. Santoli, Sarah K. Dotters‐Katz, Teresa N. Sparks, Jeffrey A. Kuller   +3 more
wiley   +1 more source

Spinal Postures and Mobility in Children with Achondroplasia vs. Age- and Sex-Matched Healthy Individuals: A Preliminary Report. [PDF]

J Clin Med
Background: Achondroplasia is a rare genetic disease, yet the most common form of dwarfism, characterized by limb shortening and disproportionate short stature along with musculoskeletal changes, such as postural deviations.
Bayartai ME, Luomajoki H, Aliverti A, LoMauro A, Tringali G, Sartorio A.   +5 more
europepmc   +3 more sources

Collaborative contributions to genetics: Systemic and narrative approaches

Journal of Family Therapy, Volume 47, Issue 2, May 2025.
Abstract This article aims to demonstrate the significance of collaboration and mutual learning from the perspective of a narrative and systemic family therapist working as an outsider in the field of genetics and genetic counselling. The author proposes that systemic family therapy and narrative practices can contribute to the field of genetics ...
Mariangels Ferrer‐Duch
wiley   +1 more source

Displasia diastrófica: diagnóstico pré-natal e revisão da literatura [PDF]

, 2013
CONTEXT Diastrophic dysplasia is a type of osteochondrodysplasia caused by homozygous mutation in the gene DTDST (diastrophic dysplasia sulfate transporter gene).
Araujo Júnior, Edward, Bruns, Rafael Frederico, Ferrari, Lilian Pereira, Gründtner, Luciana Fernandes, Honório, Jonathan Celli, Nardozza, Luciano Marcondes Machado, Raskin, Salmo   +6 more
core   +2 more sources

Sequential prenatal diagnosis of fetal skeletal dysplasia: A cohort study

Acta Obstetricia et Gynecologica Scandinavica, Volume 104, Issue 5, Page 860-874, May 2025.
Of the 147 SD fetuses, 58 cases with negative CMA results underwent WES, and 21 genes with pathogenic/likely pathogenic variants were detected in 21 cases, including FGFR3 (n = 11), COL1A1 (n = 2), COL1A2 (n = 1), RUNX2 (n = 1), COL2A1 (n = 1), LMX1B (n = 1), GLI3 (n = 1), DYNC2H1 (n = 1), ALPL (n = 1), and SHOX (n = 1).
Mengting Jiang, Bin Zhang, Jing Wang, Wei Qiao, Xiuzhen Mao, Bin Yu   +5 more
wiley   +1 more source

Fibroblast growth factor (FGF) signaling in development and skeletal diseases [PDF]

, 2014
Fibroblast growth factors (FGF) and their receptors serve many functions in both the developing and adult organism. Humans contain 18 FGF ligands and four FGF receptors (FGFR).
Farina, Evan M., Reid, Russell R., Rivas, Jane, Teven, Chad M.   +3 more
core   +1 more source

Reference Values of Arm Span and Arm Span to Height Ratio of Japanese Population in Childhood and Adolescence: Comparison With Dutch and Turkish Population

American Journal of Human Biology, Volume 37, Issue 4, April 2025.
ABSTRACT Objectives To establish age‐specific reference values for the arm span and arm span/height ratio of the Japanese population in children and adolescence and elucidate their characteristics compared with those of other populations. Study Design We analyzed data from a national survey on the body sizes of Japanese people conducted between 1992 ...
Yasuhiro Hirano, Mikako Inokuchi, Satoshi Narumi, Tomonobu Hasegawa   +3 more
wiley   +1 more source

Escherichia coli in the production of biopharmaceuticals

Biotechnology and Applied Biochemistry, Volume 72, Issue 2, Page 528-541, April 2025.
Abstract Escherichia coli has shouldered a massive workload with the discovery of recombinant DNA technology. A new era began in the biopharmaceutical industry with the production of insulin, the first recombinant protein, in E. coli and its use in treating diabetes. After insulin, many biopharmaceuticals produced from E. coli have been approved by the
İbrahim İncir, Özlem Kaplan
wiley   +1 more source

Distraction osteogenesis of the lower extremity with use of monolateral external fixation [PDF]

, 1998
We reviewed the results of distraction osteogenesis of 114 femora and 147 tibiae that had been lengthened to treat a variety of diagnoses. The femora had been lengthened an average of eleven centimeters (range, 3.5 to 17.0 centimeters), or 48 per cent ...
Cañadell, J.M. (J. M.), Forriol, F. (Francisco), Leyes, M. (Manuel), Noonan, K.J. (Kenneth J.)   +3 more
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