Works matching Osteogenesis imperfecta and genetics

Results: 283

Análisis del trastorno genético osteogénesis imperfecta.

Published in:

Dilemas Contemporáneos: Educación, Política y Valores, 2023, v. 10, n. 2, p. 1

By:

Viteri Rodríguez, Juan Alberto;
Salazar Pullutacsi, Karen Daniela;
Villacis Paredes, Gabriela Alexandra

Publication type:

Article

Fetal Fractures in an Infant with Maternal Ehlers-Danlos Syndrome, CCDC134 Pathogenic Mutation and a Negative Genetic Test for Osteogenesis Imperfecta.

Published in:

Children, 2021, v. 8, n. 6, p. 1, doi. 10.3390/children8060512

By:

Holick, Michael F.;
Shirvani, Arash;
Charoenngam, Nipith

Publication type:

Article

Genetic landscape and phenotypic spectrum of osteogenesis imperfecta in the Kazakhstani pediatric population.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-95877-z

By:

Bayanova, Mirgul;
Abilova, Aigerim;
Rakhimzhanova, Marzhan;
Bazenova, Assiya;
Nazarova, Lyazzat;
Malik, Dias;
Tanko, Naanlep Matthew;
Altaeva, Nursulu;
Bolatov, Aidos

Publication type:

Article

Current Practices and the Provider Perspectives on Inconclusive Genetic Test Results for Osteogenesis Imperfecta in Children with Unexplained Fractures: ELSI Implications.

Published in:

Journal of Law, Medicine & Ethics, 2016, v. 44, n. 3, p. 514, doi. 10.1177/1073110516667947

By:

Youngblom, Emily;
Murray, Mitzi Leah;
Byers, Peter H.

Publication type:

Article

Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1112, doi. 10.1038/ejhg.2015.129

By:

Lindahl, Katarina;
Åström, Eva;
Rubin, Carl-Johan;
Grigelioniene, Giedre;
Malmgren, Barbro;
Ljunggren, Östen;
Kindmark, Andreas

Publication type:

Article

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.

Published in:

2009

By:

Van Dijk, Fleur S.;
Nesbitt, Isabel M.;
Nikkels, Peter G. J.;
Dalton, Ann;
Bongers, Ernie M. H. F.;
van de Kamp, Jiddeke M.;
Hilhorst-Hofstee, Yvonne;
Den Hollander, Nicolette S.;
Lachmeijer, Augusta M. A.;
Marcelis, Carlo L.;
Tan-Sindhunata, Gita M. B.;
van Rijn, Rick R.;
Meijers-Heijboer, Hanne;
Cobben, Jan M.;
Pals, Gerard

Publication type:

Correction Notice

Scoliosis in osteogenesis imperfecta: identifying the genetic and non-genetic factors affecting severity and progression from longitudinal data of 290 patients.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02906-z

By:

Chen, Peikai;
Zhou, Yapeng;
Tan, Zhijia;
Lin, Yunzhi;
Lin, Daniel Li-Liang;
Wu, Jingwei;
Li, Zeluan;
Shek, Hiu Tung;
Wu, Jianbin;
Hu, Yong;
Zhu, Feng;
Chan, Danny;
Cheung, Kenneth Man-Chee;
To, Michael Kai-Tsun

Publication type:

Article

Impact of three genetic musculoskeletal diseases: a comparative synthesis of achondroplasia, Duchenne muscular dystrophy and osteogenesis imperfecta.

Published in:

Health & Quality of Life Outcomes, 2014, v. 12, n. 1, p. 151, doi. 10.1186/s12955-014-0151-y

By:

Dogba, Maman Joyce;
Rauch, Frank;
Douglas, Erin;
Bedos, Christophe

Publication type:

Article

Impact of three genetic musculoskeletal diseases: a comparative synthesis of achondroplasia, Duchenne muscular dystrophy and osteogenesis imperfecta.

Published in:

2014

By:

Dogba, Maman Joyce;
Rauch, Frank;
Douglas, Erin;
Bedos, Christophe

Publication type:

journal article

Clinical and genetic analysis in 185 Chinese probands of osteogenesis imperfecta.

Published in:

Journal of Bone & Mineral Metabolism, 2021, v. 39, n. 3, p. 416, doi. 10.1007/s00774-020-01163-5

By:

Xi, Lei;
Zhang, Hao;
Zhang, Zhen-Lin

Publication type:

Article

Uwarunkowania genetyczne wrodzonej łamliwości kości - przegląd aktualnego piśmiennictwa.

Published in:

Pediatric Endocrinology / Endokrynologia Pediatryczna, 2014, v. 13, n. 3, p. 57

By:

Beska, Karolina;
Rusińska, Agnieszka;
Michałus, Izabela;
Chlebna-Sokół, Danuta

Publication type:

Article

Case Report: A novel de novo variant of COL1A1 in fetal genetic osteogenesis imperfecta.

Published in:

Frontiers in Endocrinology, 2023, p. 01, doi. 10.3389/fendo.2023.1267252

By:

Qiuyan Mai;
Ruining Han;
Yinlong Chen;
Ke Shen;
Shimin Wang;
Qingliang Zheng

Publication type:

Article

Impact of Genetic and Pharmacologic Inhibition of Myostatin in a Murine Model of Osteogenesis Imperfecta.

Published in:

Journal of Bone & Mineral Research, 2021, v. 36, n. 4, p. 739, doi. 10.1002/jbmr.4223

By:

Omosule, Catherine L;
Gremminger, Victoria L;
Aguillard, Ashley M;
Jeong, Youngjae;
Harrelson, Emily N;
Miloscio, Lawrence;
Mastaitis, Jason;
Rafique, Ashique;
Kleiner, Sandra;
Pfeiffer, Ferris M;
Zhang, Anqing;
Schulz, Laura C;
Phillips, Charlotte L

Publication type:

Article

Beyond brittle bones: Genetic mechanisms underlying osteogenesis imperfecta (Review).

Published in:

World Academy of Sciences Journal, 2024, v. 6, n. 6, p. N.PAG, doi. 10.3892/wasj.2024.284

By:

Khan, Hammal;
Ahmed, Zaheer;
Umair, Muhammad

Publication type:

Article

Two pregnancies after preimplantation genetic diagnosis for osteogenesis imperfecta type I and type IV.

Published in:

Human Genetics, 2000, v. 106, n. 6, p. 605, doi. 10.1007/s004390000298

By:

De Vos, Anick;
Sermon, Karen;
Van de Velde, Hilde;
Joris, Hubert;
Vandervorst, Mark;
Lissens, Willy;
De Paepe, Anne;
Liebaers, Inge;
Van Steirteghem, André

Publication type:

Article

Correction to "Analysis of the clinical and genetic characteristics of a Chinese family with osteogenesis imperfecta type I".

Published in:: 2024
Publication type:: Correction Notice

Analysis of the clinical and genetic characteristics of a Chinese family with osteogenesis imperfecta type I.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 9, p. 1, doi. 10.1002/mgg3.2019

By:

Niu, Zhijie;
Lai, Yongjing;
Zhou, Wenwen;
Liu, Lingyuan;
Tan, Songhua;
He, Guangyao;
Li, Jingyu;
Tang, Fen;
Su, Yupei;
Xu, Yanglong;
Liu, Lei;
Xie, Lihong;
Fang, Qin;
Tang, Anzhou

Publication type:

Article

The quality of genetic counselling in osteogenesis imperfecta.

Published in:

1981

By:

Paterson, C. R.;
Mowat, E.

Publication type:

journal article

Severe Osteogenesis Imperfecta: Evolving Roles of Genetic Counselors.

Published in:

Journal of Genetic Counseling, 2002, v. 11, n. 6, p. 489

By:

Terry, L.;
Berry, M.;
Jewett, T.

Publication type:

Article

Genetic diagnosis for osteogenesis imperfecta: abridged secondary publication.

Published in:

Hong Kong Medical Journal, 2025, v. 31, p. 14

By:

Gao, B.;
To, M. K. T.;
Chan, D.;
Song, Y. Q.

Publication type:

Article

Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.

Published in:

Fetal Diagnosis & Therapy, 2024, v. 51, n. 3, p. 285, doi. 10.1159/000536324

By:

Senturk, Leyli;
Gulec, Cagri;
Sarac Sivrikoz, Tugba;
Kayserili, Hulya;
Kalelioglu, Ibrahim Halil;
Avci, Sahin;
Has, Recep;
Coucke, Paul;
Kalayci, Tugba;
Wollnik, Bernd;
Karaman, Birsen;
Toksoy, Guven;
Symoens, Sofie;
Yigit, Gokhan;
Yuksel, Atil;
Basaran, Seher;
Tuysuz, Beyhan;
Altunoglu, Umut;
Uyguner, Zehra Oya

Publication type:

Article

Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1042, doi. 10.1038/ejhg.2015.81

By:

Lindahl, Katarina;
Åström, Eva;
Rubin, Carl-Johan;
Grigelioniene, Giedre;
Malmgren, Barbro;
Ljunggren, Östen;
Kindmark, Andreas

Publication type:

Article

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1560, doi. 10.1038/ejhg.2009.75

By:

Van Dijk, Fleur S.;
Nesbitt, Isabel M.;
Nikkels, Peter G. J.;
Dalton, Ann;
Bongers, Ernie M. H. F.;
van de Kamp, Jiddeke M.;
Hilhorst-Hofstee, Yvonne;
Den Hollander, Nicolette S.;
Lachmeijer, Augusta M. A.;
Marcelis, Carlo L.;
Tan-Sindhunata, Gita M. B.;
van Rijn, Rick R.;
Meijers-Heijboer, Hanne;
Cobben, Jan M.;
Pals, Gerard

Publication type:

Article

Osteogenesis imperfecta: Novel genetic variants and clinical observations from a clinical exome study of 54 Indian patients.

Published in:

Annals of Human Genetics, 2021, v. 85, n. 1, p. 37, doi. 10.1111/ahg.12403

By:

Madhuri, Vrisha;
Selina, Agnes;
Loganathan, Lakshmi;
Kumar, Ashis;
Kumar, Vignesh;
Raymond, Renita;
Ramesh, Sowmya;
Vincy, Nimmy;
Joel, Giftson;
James, Deeptiman;
Kandagaddala, Madhavi;
B, Antonisamy

Publication type:

Article

OSTEOGENESIS IMPERFECTA: GENETICS AND TREATMENT.

Published in:

2018

By:

Pinnell, Jonathan;
Chaudhuri, Kaushik

Publication type:

Case Study

Clinical, genetic characteristics and treatment outcomes of children and adolescents with osteogenesis imperfecta: a two-center experience.

Published in:

Connective Tissue Research, 2022, v. 63, n. 4, p. 349, doi. 10.1080/03008207.2021.1932853

By:

Erbaş, İbrahim Mert;
İlgün Gürel, Deniz;
Manav Kabayeğit, Zehra;
Koç, Altuğ;
Ünüvar, Tolga;
Abacı, Ayhan;
Böber, Ece;
Anık, Ahmet

Publication type:

Article

Molecular genetics analysis of osteogenesis imperfecta in clinical practice.

Published in:

Paediatria Croatica, 2017, v. 61, n. 3, p. 141, doi. 10.13112/pc.523

By:

Stubbe, Annika;
Primorac, Dragan;
Höppner, Wolfgang

Publication type:

Article

Clinical and Genetic Aspects in Autosomal Dominant Inherited Osteogenesis Imperfecta Type I.

Published in:

Annals of the New York Academy of Sciences, 1991, v. 630, n. 1, p. 240, doi. 10.1111/j.1749-6632.1991.tb19594.x

By:

GARRETSEN, TON J. T. M.;
CREMERS, COR W. R. J.

Publication type:

Article

Osteogenesis Imperfecta Nosology and Genetics.

Published in:

Annals of the New York Academy of Sciences, 1988, v. 543, n. 1, p. 1, doi. 10.1111/j.1749-6632.1988.tb55311.x

By:

SILLENCE, D. O.

Publication type:

Article

Etiology of Osteogenesis Imperfecta: An Overview of Biochemical and Molecular Genetic Analyses.

Published in:

Connective Tissue Research, 1995, v. 31, n. 4, p. 257, doi. 10.3109/03008209509010818

By:

Byers, Peter H.

Publication type:

Article

Osteogenesis imperfecta: a genetic, radiological, and epidemiological study.

Published in:

Clinical Genetics, 1989, v. 36, n. 4, p. 250, doi. 10.1111/j.1399-0004.1989.tb03198.x

By:

Andersen, Poul Erik;
Hauge, Mogens

Publication type:

Article

Preimplantation genetic testing for recurrent autosomal dominant osteogenesis imperfecta associated with paternal gonosomal mosaicism.

Published in:

2022

By:

Haiyan Bai;
Xiaofang Li;
Xitong Liu;
Wenhao Shi;
Bin He;
Ruiyang Wei;
Juanzi Shi

Publication type:

Case Study

Perthes Disease in a Child With Osteogenesis Imperfecta From a Rare Genetic Variant: A Case Report.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.920950

By:

Pan Hong;
Xiaolong Zhao;
Ruikang Liu;
Rai, Saroj;
Yingying Song;
Ruijing Xu;
Jin Li

Publication type:

Article

Erratum: Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients.

Published in:

Human Mutation, 2004, v. 23, n. 6, p. 629, doi. 10.1002/humu.9244

By:

Ries-Levavi, Liat;
Ish-Shalom, Tsofia;
Frydman, Moshe;
Lev, Dorit;
Cohen, Shirley;
Barkai, Gad;
Goldman, Boleslaw;
Byers, Peter;
Friedman, Eitan

Publication type:

Article

Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients.

Published in:

Human Mutation, 2004, v. 23, n. 4, p. 399, doi. 10.1002/humu.9230

By:

Ries-Levavi, Liat;
Ish-Shalom, Tsofia;
Frydman, Moshe;
Lev, Dorit;
Cohen, Shirley;
Barkai, Gad;
Goldman, Boleslaw;
Byers, Peter;
Friedman, Eitan

Publication type:

Article

Update on the Genetics of Osteogenesis Imperfecta.

Published in:

Calcified Tissue International, 2024, v. 115, n. 6, p. 891, doi. 10.1007/s00223-024-01266-5

By:

Jovanovic, Milena;
Marini, Joan C.

Publication type:

Article

From Genetics to Clinical Implications: A Study of 675 Dutch Osteogenesis Imperfecta Patients.

Published in:

Biomolecules (2218-273X), 2023, v. 13, n. 2, p. 281, doi. 10.3390/biom13020281

By:

Storoni, Silvia;
Verdonk, Sara J. E.;
Zhytnik, Lidiia;
Pals, Gerard;
Treurniet, Sanne;
Elting, Mariet W.;
Sakkers, Ralph J. B.;
van den Aardweg, Joost G.;
Eekhoff, Elisabeth M. W.;
Micha, Dimitra

Publication type:

Article

Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta.

Published in:

Laryngoscope, 2009, v. 119, n. 6, p. 1171, doi. 10.1002/lary.20155

By:

Swinnen, Freya K.R.;
De Leenheer, Els M.R.;
Coucke, Paul J.;
Cremers, Cor W. R. J.;
Dhooge, Ingeborg J. M.

Publication type:

Article

The Genetic Basis Of Autosomal Recessive Osteogenesis Imperfecta In The Irish Traveller Population.

Published in:

Ulster Medical Journal, 2008, v. 77, n. 1, p. 68

By:

Walsh, J.;
Lambert, D.;
Baldridge, D. M.;
Morello, R.;
Eyre, D.;
Lee, B.;
Green, A. J.

Publication type:

Article

Expanding the genetic and clinical spectrum of osteogenesis imperfecta: identification of novel rare pathogenic variants in type I collagen-encoding genes.

Published in:

Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1254695

By:

Paduano, Francesco;
Fischetto, Rita;
Moretti, Biagio;
De Vito, Danila;
Tatullo, Marco

Publication type:

Article

Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and their Genotype-phenotype Correlation.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2024, v. 16, n. 4, p. 431, doi. 10.4274/jcrpe.galenos.2024.2022-12-8

By:

Özen, Samim;
Gökşen, Damla;
Evin, Ferda;
Işık, Esra;
Onay, Hüseyin;
Akgün, Bilçağ;
Ata, Aysun;
Atik, Tahir;
Düzcan, Füsun;
Özkınay, Ferda;
Darcan, Şükran;
Çoğulu, Özgür

Publication type:

Article

GENETIC COUNSELLING AND PRENATAL DIAGNOSIS OF OSTEOGENESIS IMPERFECTA CAUSED BY PATERNAL MOSAICISM.

Published in:

Prenatal Diagnosis, 1996, v. 16, n. 11, p. 1032, doi. 10.1002/(SICI)1097-0223(199611)16:11<1032::AID-PD984>3.0.CO;2-9

By:

LUND, ALLAN M.;
SCHWARTZ, MARIANNE;
SKOVBY, FLEMMING

Publication type:

Article

Rheumatoid arthritis and osteogenesis imperfecta: is there a genetic causal association?

Published in:

2022

By:

Mormile, Ilaria;
Russo, Roberta;
Andolfo, Immacolata;
de Paulis, Amato;
Rossi, Francesca Wanda;
Rendina, Domenico

Publication type:

Letter

Papillary Thyroid Cancer in Identical Adolescent Twins with Osteogenesis Imperfecta and Hashimoto's Thyroiditis: Is There a Genetic Link?

Published in:

American Surgeon, 2014, v. 80, n. 9, p. 849, doi. 10.1177/000313481408000915

By:

DIEGIDIO, PAUL;
KOLOK, DAMON;
BROWN, WHITNEY;
CAMPS, JUAN I.

Publication type:

Article

A single-centre study of genetic mutations, audiology, echocardiogram and pulmonary function in Saudi children with osteogenesis imperfecta.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 3, p. 355, doi. 10.1515/jpem-2021-0587

By:

Ahmad, Noman;
Aleysae, Nabil Abdulrahman;
Sobaihi, MrougeMohamed;
Naitah, NisreenAbdulaziz;
Rasol, Mohammed Amin;
Al-Kouatli, Amjad Adnan;
Almaghamsi, Talal Mohammad;
Heaphy, Emily Lenore Goldman;
Attiyah, Meshal Hassan;
Hrays, MaymoonaAbdelmouz;
Alghamdi, Balgees;
Alzahrani, Ali Saeed

Publication type:

Article

What is new in genetics and osteogenesis imperfecta classification?

Published in:

Jornal de Pediatria, 2014, v. 90, n. 6, p. 536, doi. 10.1016/j.jped.2014.05.003

By:

Valadares, Eugênia R.;
Carneiro, Túlio B.;
Santos, Paula M.;
Oliveira, Ana Cristina;
Zabel, Bernhard

Publication type:

Article

Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1675

By:

Higuchi, Yousuke;
Hasegawa, Kosei;
Futagawa, Natsuko;
Yamashita, Miho;
Tanaka, Hiroyuki;
Tsukahara, Hirokazu

Publication type:

Article

Developing pathways to clarify pathogenicity of unclassified variants in Osteogenesis Imperfecta genetic analysis.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.912

By:

Balasubramanian, Meena;
Hobson, Emma;
Skae, Mars;
McCaughey, Janine;
Stephens, David J.

Publication type:

Article

Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.

Published in:

Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 1, p. 15, doi. 10.1002/mgg3.331

By:

Essawi, Osama;
Symoens, Sofie;
Fannana, Maha;
Darwish, Mohammad;
Farraj, Mohammad;
Willaert, Andy;
Essawi, Tamer;
Callewaert, Bert;
De Paepe, Anne;
Malfait, Fransiska;
Coucke, Paul J.

Publication type:

Article

Genetic Analysis, Phenotypic Spectrum and Functional Study of Rare Osteogenesis Imperfecta Caused by CRTAP Variants.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 7, p. 1803, doi. 10.1210/clinem/dgae025

By:

Zhou, Bingna;
Gao, Peng;
Hu, Jing;
Lin, Xiaoyun;
Sun, Lei;
Zhang, Qian;
Jiang, Yan;
Wang, Ou;
Xia, Weibo;
Xing, Xiaoping;
Li, Mei

Publication type:

Article