Works matching Skeletal abnormalities

Results: 2500

Clinical and ocular abnormalities in DEGCAGS syndrome—Developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities.

Published in:

2024

By:

Ali, Syed M.;
AlMasri, Dua A.;
Prada, Carlos E.;
Lin, Doris;
Bosley, Thomas M.;
Kozak, Igor

Publication type:

Case Study

Incremental yield of prenatal exome sequencing in fetuses with skeletal system abnormalities: A systematic review and meta‐analysis.

Published in:

Acta Obstetricia et Gynecologica Scandinavica, 2025, v. 104, n. 4, p. 604, doi. 10.1111/aogs.15025

By:

Wang, Yan;
Lv, Yuan;
Yao, Jia;
Ding, Hao;
Li, Gang;
Li, Jianmin;
Chen, Lizhu

Publication type:

Article

Approach to Investigating Congenital Skeletal Abnormalities in Livestock.

Published in:

Veterinary Pathology, 2015, v. 52, n. 5, p. 851, doi. 10.1177/0300985815579999

By:

Dittmer, K. E.;
Thompson, K. G.

Publication type:

Article

Assessment of pharyngeal airway space in patients with different maxillofacial skeletal abnormalities using cone beam computed tomography.

Published in:

Romanian Journal of Stomatology / Revista Romana de Stomatologie, 2024, v. 70, n. 1, p. 79, doi. 10.37897/RJS.2024.1.11

By:

Jugade, Shraddha;
Ramaswami, Easwaran;
Kadam, Sonali;
Ramchandani, Amit;
Umarji, Hemant

Publication type:

Article

Isolation of Mycoplasma iowae in turkey flocks with skeletal abnormalities: a retrospective study.

Published in:

Avian Pathology, 2021, v. 50, n. 3, p. 277, doi. 10.1080/03079457.2021.1914816

By:

Bottinelli, Marco;
Stefani, Elisabetta;
Matucci, Andrea;
Dal Prà, Mauro;
Capello, Katia;
Zotti, Alessandro;
Catania, Salvatore

Publication type:

Article

SKELETAL ABNORMALITIES IN THE URBAN POPULATION OF IAŞI (IAŞI COUNTY, ROMANIA): PALEOPATHOLOGICAL DATA ON THE NECROPOLIS DISCOVERED IN THE PRINCELY COURT, 17<sup>TH</sup> CENTURY.

Published in:

Annuaire Roumain d'Anthropologie, 2015, v. 52, p. 3

By:

GROZA, VASILICA-MONICA;
BEJENARU, LUMINIŢA;
SIMALCSIK, ANGELA

Publication type:

Article

Inhibition of xanthine oxidase in the acute phase of myocardial infarction prevents skeletal muscle abnormalities and exercise intolerance.

Published in:

Cardiovascular Research, 2021, v. 117, n. 3, p. 805, doi. 10.1093/cvr/cvaa127

By:

Nambu, Hideo;
Takada, Shingo;
Maekawa, Satoshi;
Matsumoto, Junichi;
Kakutani, Naoya;
Furihata, Takaaki;
Shirakawa, Ryosuke;
Katayama, Takashi;
Nakajima, Takayuki;
Yamanashi, Katsuma;
Obata, Yoshikuni;
Nakano, Ippei;
Tsuda, Masaya;
Saito, Akimichi;
Fukushima, Arata;
Yokota, Takashi;
Nio-Kobayashi, Junko;
Yasui, Hironobu;
Higashikawa, Kei;
Kuge, Yuji

Publication type:

Article

Road Proximity Increases Risk of Skeletal Abnormalities in Wood Frogs from National Wildlife Refuges in Alaska.

Published in:

Environmental Health Perspectives, 2008, v. 116, n. 8, p. 1009, doi. 10.1289/ehp.10963

By:

Reeves, Mari K.;
Dolph, Christine L.;
Zimmer, Heidi;
Tjeerdema, Ronald S.;
Trust, Kimberly A.

Publication type:

Article

Prevalence and typology of skeletal abnormalities in fishes of the Eastern Mediterranean.

Published in:

Journal of Fish Diseases, 2024, v. 47, n. 10, p. 1, doi. 10.1111/jfd.13992

By:

Chatzakis, Dimitrios;
Belbeisi, Roula Al;
Karagianni, Soultana;
Karagiannakidis, Eustratios;
Koumoundouros, George

Publication type:

Article

Effect of two temperatures on yield and increase in cranial skeletal abnormalities during early development of palm ruff, Seriolella violacea ( Guichenot 1848).

Published in:

Aquaculture Research, 2017, v. 48, n. 1, p. 298, doi. 10.1111/are.12882

By:

Argüello‐Guevara, Wilfrido;
Bohórquez‐Cruz, Milton;
Silva, Alfonso

Publication type:

Article

Extended genetic testing in fetuses with sonographic skeletal system abnormalities.

Published in:

2022

By:

Kucińska‐Chahwan, A.;
Roszkowski, T.;
Nowakowska, B.;
Geremek, M.;
Paczkowska, M.;
Bijok, J.;
Massalska, D.;
Kucińska-Chahwan, A

Publication type:

journal article

Prevalence of heart disease in patients with mitochondrial abnormalities on skeletal muscle biopsy.

Published in:

Annals of Clinical & Translational Neurology, 2021, v. 8, n. 4, p. 825, doi. 10.1002/acn3.51327

By:

Scott Binder, M.;
Roda, Ricardo H.;
Corse, Andrea M.;
Sidhu, Sunjeet;
Stewart, Sarah;
Barth, Andreas S.

Publication type:

Article

VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features.

Published in:

Clinical Genetics, 2020, v. 97, n. 4, p. 644, doi. 10.1111/cge.13690

By:

Beetz, Christian;
Ameziane, Najim;
Kdissa, Ameni;
Karageorgou, Vasiliki;
Bauer, Peter;
Suleiman, Jehan;
Sutton, V. Reid;
El‐Hattab, Ayman W.

Publication type:

Article

Prenatal trio-based whole exome sequencing in fetuses with abnormalities of the skeletal system.

Published in:

Molecular Genetics & Genomics, 2022, v. 297, n. 4, p. 1017, doi. 10.1007/s00438-022-01899-x

By:

Yang, Yang;
Wang, Min;
Wang, Hao

Publication type:

Article

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.

Published in:

PLoS Genetics, 2019, v. 15, n. 4, p. 1, doi. 10.1371/journal.pgen.1008088

By:

Tiosano, Dov;
Baris, Hagit N.;
Chen, Anlu;
Hitzert, Marrit M.;
Schueler, Markus;
Gulluni, Federico;
Wiesener, Antje;
Bergua, Antonio;
Mory, Adi;
Copeland, Brett;
Gleeson, Joseph G.;
Rump, Patrick;
van Meer, Hester;
Sival, Deborah A.;
Haucke, Volker;
Kriwinsky, Josh;
Knaup, Karl X.;
Reis, André;
Hauer, Nadine N.;
Hirsch, Emilio

Publication type:

Article

The role of starter diets in the development of skeletal abnormalities in zebrafish Danio rerio (Hamilton, 1822).

Published in:

Journal of Fish Diseases, 2023, v. 46, n. 6, p. 697, doi. 10.1111/jfd.13779

By:

Antinero, Ariel;
Printzi, Alice;
Kourkouta, Chara;
Fragkoulis, Stefanos;
Mazurais, David;
Zambonino‐Infante, Jose Luis;
Koumoundouros, George

Publication type:

Article

The impact of skeletal muscle abnormalities on tolerance to adjuvant chemotherapy and radiation and outcome in patients with endometrial cancer.

Published in:

2020

By:

Ganju, Rohit Gunan;
TenNapel, Mindi;
Spoozak, Lori;
Chen, Allen M;
Hoover, Andrew

Publication type:

journal article

Skeletal abnormalities are common features in Aymé‐Gripp syndrome.

Published in:

Clinical Genetics, 2020, v. 97, n. 2, p. 362, doi. 10.1111/cge.13651

By:

Niceta, Marcello;
Barbuti, Domenico;
Gupta, Neerja;
Ruggiero, Carlos;
Tizzano, Eduardo F.;
Graul‐Neumann, Luitgard;
Barresi, Sabina;
Nishimura, Gen;
Valenzuela, Irene;
López‐Grondona, Fermina;
Fernandez‐Alvarez, Paula;
Leoni, Chiara;
Zweier, Christiane;
Tzschach, Andreas;
Stellacci, Emilia;
Del Fattore, Andrea;
Dallapiccola, Bruno;
Zampino, Giuseppe;
Tartaglia, Marco

Publication type:

Article

Further Delineation of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities Caused by ZNF699 Gene Mutation.

Published in:

2022

By:

Biela, Mateusz;
Rydzanicz, Malgorzata;
Jankowska, Agnieszka;
Szlagatys-Sidorkiewicz, Agnieszka;
Rozensztrauch, Anna;
Płoski, Rafał;
Smigiel, Robert

Publication type:

Case Study

PREVALENCE OF DEVELOPMENTAL SKELETAL ABNORMALITIES IN THE DOG IN BULGARIA: A 6-YEAR SURVEY.

Published in:

Bulgarian Journal of Veterinary Medicine, 2014, v. 17, n. 3, p. 217

By:

SERGELIDOU, E.;
DINEV, D.

Publication type:

Article

Histopathological abnormalities of the skeletal muscle tissue from a patient affected by a rare genetic neuromyopathy.

Published in:

Italian Journal of Anatomy & Embryology / Archivio Italiano di Anatomia Ed Embriologia, 2022, v. 126, p. 89

By:

Scalia, Federica;
Barone, Rosario;
Gammazza, Antonella Marino;
Rappa, Francesca;
Noori, Leila;
Macaluso, Filippo;
Lo Celso, Fabrizio;
de Macario, Everly Conway;
Macario, Alberto J. L.;
Cappello, Francesco

Publication type:

Article

Restriction of Dietary Phosphate Ameliorates Skeletal Abnormalities in a Mouse Model for Craniometaphyseal Dysplasia.

Published in:

Journal of Bone & Mineral Research, 2020, v. 35, n. 10, p. 2070, doi. 10.1002/jbmr.4110

By:

Fujii, Yasuyuki;
Kozak, Eszter;
Dutra, Eliane;
Varadi, Andras;
Reichenberger, Ernst J;
Chen, I‐Ping

Publication type:

Article

Rare skeletal abnormalities in Rothmund-Thomson syndrome: a case report.

Published in:

International Journal of Dermatology, 2016, v. 55, n. 4, p. 460, doi. 10.1111/ijd.12723

By:

Pasagadugula, Krishnarao V.;
Chennamsetty, Teja;
Avvaru, Krishnaveni;
Chennamsetty, Kavya

Publication type:

Article

Skeletal Abnormalities and VDR1 Gene Polymorphisms in Mucopolysaccharidosis Patients.

Published in:

Pharmacogenomics & Personalized Medicine, 2021, v. 14, p. 349, doi. 10.2147/PGPM.S295241

By:

Alkhzouz, Camelia;
Cabau, Georgiana;
Lazea, Cecilia;
Asavoaie, Carmen;
Bucerzan, Simona;
Mirea, Andreea Manuela;
Farcas, Marius;
Jnr, Maria Miclaus;
Popp, Radu;
Miclea, Diana

Publication type:

Article

Prader-Willi Critical Region, a Non-Translated, Imprinted Central Regulator of Bone Mass: Possible Role in Skeletal Abnormalities in Prader-Willi Syndrome.

Published in:

PLoS ONE, 2016, v. 11, n. 1, p. 1, doi. 10.1371/journal.pone.0148155

By:

Khor, Ee-Cheng;
Fanshawe, Bruce;
Qi, Yue;
Zolotukhin, Sergei;
Kulkarni, Rishikesh N.;
Enriquez, Ronaldo F.;
Purtell, Louise;
Lee, Nicola J.;
Wee, Natalie K.;
Croucher, Peter I.;
Campbell, Lesley;
Herzog, Herbert;
Baldock, Paul A.

Publication type:

Article

X monosomy in a British shorthair cat with skeletal abnormalities and behavioral problems.

Published in:

Animal Genetics, 2023, v. 54, n. 5, p. 655, doi. 10.1111/age.13343

By:

Szczerbal, Izabela;
Nowacka‐Woszuk, Joanna;
Rozynek, Jedrzej;
Stachowiak, Monika;
Switonski, Marek

Publication type:

Article

Multiple cutaneous and skeletal abnormalities in an 8‐month‐old boy.

Published in:

Pediatric Dermatology, 2020, v. 37, n. 1, p. e7, doi. 10.1111/pde.14027

By:

Masson, Cintia Junia;
Escobar, Gabriela Fortes;
Dantas, Lia Pinheiro;
Cestari, Tania Ferreira

Publication type:

Article

Letter to the Editor: "IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy".

Published in:

2019

By:

Tornese, Gianluca

Publication type:

journal article

Response to Letter to the Editor: "IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy".

Published in:

2019

By:

Vasques, Gabriela A;
Jorge, Alexander A L

Publication type:

journal article

Two Cases of Scimitar Syndrome Associated with Multiple Congenital Skeletal Anomalies and Lacking Abnormalities by Genomic Microarray Analysis.

Published in:

2014

By:

LLOYD, ISAAC E.;
ROWE, LESLIE R.;
ERICKSON, LANCE K.;
PAXTON, CHRISTIAN N.;
SOUTH, SARAH T.;
ALASHARI, MOUIED

Publication type:

Case Study

Skeletal abnormalities and extra-skeletal ossification in mice with restricted Gsα deletion caused by a renin promoter-Cre transgene.

Published in:

Cell & Tissue Research, 2007, v. 330, n. 3, p. 487, doi. 10.1007/s00441-007-0491-6

By:

Castrop, Hayo;
Oppermann, Mona;
Mizel, Diane;
Yuning Huang;
Faulhaber-Walter, Robert;
Weiss, Yvonne;
Weinstein, Lee S.;
Min Chen;
Germain, Stephane;
Huiyan Lu;
Ragland, Dan;
Schimel, Daniel M.;
Schnermann, Jurgen

Publication type:

Article

Mice Lacking the Matrilin Family of Extracellular Matrix Proteins Develop Mild Skeletal Abnormalities and Are Susceptible to Age-Associated Osteoarthritis.

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 2, p. 1, doi. 10.3390/ijms21020666

By:

Li, Ping;
Fleischhauer, Lutz;
Nicolae, Claudia;
Prein, Carina;
Farkas, Zsuzsanna;
Saller, Maximilian Michael;
Prall, Wolf Christian;
Wagener, Raimund;
Heilig, Juliane;
Niehoff, Anja;
Clausen-Schaumann, Hauke;
Alberton, Paolo;
Aszodi, Attila

Publication type:

Article

Editorial: Perspectives in avian skeletal systems and skeletal abnormalities.

Published in:

Frontiers in Physiology, 2023, p. 1, doi. 10.3389/fphys.2023.1229943

By:

Chongxiao Chen;
Pokoo-Aikins, Anthony;
Shu-Cheng Huang;
Regmi, Prafulla;
Rehman, Mujeeb Ur

Publication type:

Article

The First Turkish Family with Skeletal Abnormality and Novel NPR2 Gene Mutation.

Published in:

Türkiye Klinikleri Journal of Case Reports, 2020, v. 28, n. 4, p. 288, doi. 10.5336/caserep.2020-75862

By:

RANDA, Nadide Cemre

Publication type:

Article

Spag17 Deficiency Results in Skeletal Malformations and Bone Abnormalities.

Published in:

PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0125936

By:

Teves, Maria Eugenia;
Sundaresan, Gobalakrishnan;
Cohen, David J.;
Hyzy, Sharon L.;
Kajan, Illya;
Maczis, Melissa;
Zhang, Zhibing;
Costanzo, Richard M.;
Zweit, Jamal;
Schwartz, Zvi;
Boyan, Barbara D.;
IIIStrauss, Jerome F.

Publication type:

Article

Skeletal abnormalities caused by a Connexin43<sub>R239Q</sub> mutation in a mouse model for autosomal recessive craniometaphyseal dysplasia.

Published in:

Bone Research, 2025, v. 13, n. 1, p. 1, doi. 10.1038/s41413-024-00383-z

By:

Fujii, Yasuyuki;
Okabe, Iichiro;
Hatori, Ayano;
Sah, Shyam Kishor;
Kanaujiya, Jitendra;
Fisher, Melanie;
Norris, Rachael;
Terasaki, Mark;
Reichenberger, Ernst J.;
Chen, I-Ping

Publication type:

Article

Skeletal phenotypes in secreted frizzled-related protein 4 gene knockout mice mimic skeletal architectural abnormalities in subjects with Pyle's disease from SFRP4 mutations.

Published in:

Bone Research, 2023, v. 11, n. 1, p. 1, doi. 10.1038/s41413-022-00242-9

By:

Brommage, Robert;
Liu, Jeff;
Powell, David R.

Publication type:

Article

Erratum: Pandemic of Vitamin D Deficiency: Cardiometabolic Concern or Skeletal Biochemical Abnormality?

Published in:: Indian Journal of Endocrinology & Metabolism, 2019, v. 23, n. 3, p. 386, doi. 10.4103/2230-8210.263698
Publication type:: Article

Pandemic of Vitamin D deficiency: Cardiometabolic concern or skeletal biochemical abnormality?

Published in:

Indian Journal of Endocrinology & Metabolism, 2019, v. 23, n. 2, p. 215, doi. 10.4103/ijem.IJEM_59_19

By:

Mukhopadhyay, Pradip;
Ghosh, Sujoy;
Pandit, Kaushik;
Chatterjee, Purushottam;
Mukherjee, Partha;
Chowdhury, Subhankar

Publication type:

Article

Hutchinson-Gilford progeria syndrome accompanied by severe skeletal abnormalities in two Chinese siblings: two case reports.

Published in:

2013

By:

Zhimin Xiong;
Yanmei Lu;
Jinjie Xue;
Sanchuan Luo;
Xiaojuan Xu;
Lusi Zhang;
Hao Peng;
Wei Li;
Dengming Chen;
Zhengmao Hu;
Kun Xia;
Xiong, Zhimin;
Lu, Yanmei;
Xue, Jinjie;
Luo, Sanchuan;
Xu, Xiaojuan;
Zhang, Lusi;
Peng, Hao;
Li, Wei;
Chen, Dengming

Publication type:

journal article

Immune skeletal dysplasia with neurodevelopmental abnormalities caused by a novel variant of EXTL3 gene in a Chinese family.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2308

By:

Tian, Xinyuan;
Zhang, Xiaoni;
Zhang, Qinghua;
Chen, Xue;
Zhou, Bingbo;
Ma, Panpan;
zheng, Lei;
Hao, Shengju;
Ling, Junhe;
Zhang, Chuan;
Hui, Ling

Publication type:

Article

Sensitive stages during embryonic development of wolffish, Anarhichas lupus L. determining the final numbers of rays in unpaired fins and skeletal abnormalities.

Published in:

ICES Journal of Marine Science / Journal du Conseil, 1996, v. 53, n. 4, p. 731, doi. 10.1006/jmsc.1996.0092

By:

Pavlov, Dimitri A.;
Moksness, Erlend

Publication type:

Article

Assessment of Immunological, Skeletal, and Thyroid Function Abnormalities in Paediatric Morphoea.

Published in:

Indian Journal of Dermatology, 2025, v. 70, n. 1, p. 50, doi. 10.4103/ijd.ijd_1081_23

By:

Mendiratta, Vibhu;
Yadav, Anuja;
Meena, Amit K.;
Samudrala, Suvarna;
Singh, Ritu;
Parmar, Vishal

Publication type:

Article

Status and advances in the mechanism research on dento-maxillofacial skeletal abnormalities.

Published in:

Journal of Shanghai Jiaotong University (Medical Science), 2024, v. 44, n. 6, p. 663, doi. 10.3969/j.issn.1674-8115.2024.06.001

By:

JIANG Lingyong

Publication type:

Article

Corrigendum: Clinical Characteristics of Short-Stature Patients With Collagen Gene Mutation and the Therapeutic Response to rhGH.

Published in:

2022

By:

Chen, Meiping;
Miao, Hui;
Liang, Hanting;
Ke, Xiaoan;
Yang, Hongbo;
Gong, Fengying;
Wang, Linjie;
Duan, Lian;
Chen, Shi;
Pan, Hui;
Zhu, Huijuan

Publication type:

Correction Notice

Clinical Characteristics of Short-Stature Patients With Collagen Gene Mutation and the Therapeutic Response to rhGH.

Published in:

Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.820001

By:

Chen, Meiping;
Miao, Hui;
Liang, Hanting;
Ke, Xiaoan;
Yang, Hongbo;
Gong, Fengying;
Wang, Linjie;
Duan, Lian;
Chen, Shi;
Pan, Hui;
Zhu, Huijuan

Publication type:

Article

Trichorhinophalangeal syndrome as a diagnostic and therapeutic challenge for paediatric endocrinologists.

Published in:

Pediatric Endocrinology, Diabetes & Metabolism, 2019, v. 25, n. 1, p. 41, doi. 10.5114/pedm.2019.84708

By:

Foryś-Dworniczak, Elżbieta;
Zajdel-Cwynar, Olimpia;
Kalina-Faska, Barbara;
Małecka-Tendera, Ewa;
Matusik, Paweł

Publication type:

Article

Musculo-Skeletal Abnormalities in Patients with Marfan Syndrome.

Published in:

Clinical Medicine Insights: Arthritis & Musculoskeletal Disorders, 2013, n. 6, p. 1, doi. 10.4137/CMAMD.S10279

By:

Al Kaissi, Ali;
Zwettler, Elisabeth;
Ganger, Rudolf;
Schreiner, Simone;
Klaushofer, Klaus;
Grill, Franz

Publication type:

Article

Balancing between Artemia and microdiet usage for normal skeletal development in zebrafish (Danio rerio).

Published in:

Journal of Fish Diseases, 2021, v. 44, n. 11, p. 1689, doi. 10.1111/jfd.13487

By:

Printzi, Alice;
Kourkouta, Chara;
Fragkoulis, Stefanos;
Dimitriadi, Anastasia;
Geladakis, George;
Orfanakis, Michail;
Mazurais, David;
Zambonino‐Infante, Jose‐Luis;
Koumoundouros, George

Publication type:

Article

Poor bone health in Duchenne muscular dystrophy: a multifactorial problem beyond corticosteroids and loss of ambulation.

Published in:

Frontiers in Endocrinology, 2024, p. 1, doi. 10.3389/fendo.2024.1398050

By:

Hurley-Novatny, Amelia;
Chang, David;
Murakami, Katsuhiro;
Wang, Ling;
Li, Hongshuai

Publication type:

Article