Works matching DE "SKELETAL abnormalities"

Results: 640

Loss-of-function of DDR1 is responsible for a chondrodysplasia with multiple dislocations.

Published in:

Journal of Bone & Mineral Research, 2025, v. 40, n. 3, p. 362, doi. 10.1093/jbmr/zjae205

By:

Villegas Villarroel, Miriam;
Huber, Céline;
Baujat, Geneviève;
Bonnard, Adeline;
Collet, Corinne;
Cormier-Daire, Valérie

Publication type:

Article

Arhgap29 Deficiency Directly Leads to Systemic and Craniofacial Skeletal Abnormalities.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 10, p. 4647, doi. 10.3390/ijms26104647

By:

Zhang, Beibei;
Pan, Xiaoyun;
Chi, Dandan;
Wang, Yumeng;
Ruan, Wenyan;
Ma, Jian;
Duan, Xiaohong;
Huang, Yongqing

Publication type:

Article

Anatomical study of the maxillary sinus: which characteristics can influence its volume?

Published in:

Surgical & Radiologic Anatomy, 2023, v. 45, n. 1, p. 81, doi. 10.1007/s00276-022-03055-x

By:

Lessa, Anne Maria Guimarães;
Oliveira, Vitor Silva;
Costa, Roberta Basanez Aleluia;
Meneses, Alana Tavares Ribeiro;
Crusoé-Rebello, Iêda;
Costa, Fábio Wildson Gurgel;
Neves, Frederico Sampaio

Publication type:

Article

Bilateral arcuate foramen associated with partial defect of the posterior arch of the atlas in a medieval skeleton: case report and review of the literature. Looking backward to go forward.

Published in:

Surgical & Radiologic Anatomy, 2011, v. 33, n. 6, p. 495, doi. 10.1007/s00276-010-0760-z

By:

Travan, Luciana;
Saccheri, Paola;
Sabbadini, Gastone;
Crivellato, Enrico

Publication type:

Article

TERATOGENIC TEST OF BROTOWALI STEM EXTRACT (Tinospora crispa) AND TEMULAWAK RHIZOME EXTRACT (Curcuma xanthorrhiza) ON WHITE MOUSE FETUSES (Mus musculus).

Published in:

Eduvest: Journal Of Universal Studies, 2024, v. 4, n. 1, p. 78

By:

Ardiyantoro, Bagas;
P., Ason Merari;
Mardiyono

Publication type:

Article

Effects of meso-2,3-dimercaptosuccinic acid (DMSA) on the teratogenicity of sodium arsenate in mice.

Published in:

Bulletin of Environmental Contamination & Toxicology, 1991, v. 47, n. 5, p. 682, doi. 10.1007/BF01701134

By:

Bosque, M.;
Domingo, J.;
Llobet, J.;
Corbella, J.

Publication type:

Article

Mandibular repositioning in adult patients - an alternative to surgery? A two-year follow-up.

Published in:

Australasian Orthodontic Journal (0587-3908), 2019, v. 35, n. 1, p. 61, doi. 10.21307/aoj-2020-034

By:

Fiorelli, Giorgio;
Merlo, Paola;
Dalstra, Michel;
Melsen, Birte

Publication type:

Article

Shwachman-Diamond syndrome.

Published in:: Anaesthesiologie & Intensivmedizin, 2021, v. 62, p. 1, doi. 10.19224/ai2021.S001
Publication type:: Article

Nevoid Basal Cell Carcinoma Syndrome (Gorlin-Goltz Syndrome): A Patient Showing Distinctive Dermoscopic Features: Case Report.

Published in:

2017

By:

YORULMAZ, Ahu;
ATILAN, Ahmet Uğur;
YALÇIN, Başak

Publication type:

Case Study

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

HEALTH STATUS OF THE POPULATION FROM THE PERIOD OF THE FUNNEL BEAKER CULTURE FROM MODŘICE (BRNO-COUNTRY DISTRICT, CZECH REPUBLIC).

Published in:

Anthropologie, 2024, v. 62, n. 3, p. 231, doi. 10.26720/anthro.24.08.10.1

By:

VARGOVÁ, LENKA;
TVRDÝ, ZDENĚK;
VYMAZALOVÁ, KATEŘINA

Publication type:

Article

Comparison of miniaturized percutaneous nephrolithotomy and standard percutaneous nephrolithotomy for the treatment of large kidney stones: a randomized prospective study.

Published in:

Urolithiasis, 2019, v. 47, n. 3, p. 289, doi. 10.1007/s00240-018-1061-y

By:

Güler, Ali;
Erbin, Akif;
Ucpinar, Burak;
Savun, Metin;
Sarilar, Omer;
Akbulut, Mehmet Fatih

Publication type:

Article

Fully automatic segmentation of phalanges from hand radiographs for bone age assessment.

Published in:

Computer Methods in Biomechanics & Biomedical Engineering: Imaging & Visualisation, 2019, v. 7, n. 1, p. 59, doi. 10.1080/21681163.2017.1416491

By:

Simu, Shreyas;
Lal, Shyam;
Fadte, Kunal;
Harlapur, Atteeque

Publication type:

Article

Developmental Toxicity Study of DL-4-Hydroxy-4-Phenylhexanamide (DL-HEPB) in Rats.

Published in:

Life (2075-1729), 2023, v. 13, n. 8, p. 1714, doi. 10.3390/life13081714

By:

Cristóbal-Luna, José Melesio;
Mojica-Villegas, María Angélica;
Meza-Toledo, Sergio Enrique;
García-Martínez, Yuliana;
Pérez-Juárez, Angélica;
Chamorro-Cevallos, Germán

Publication type:

Article

Multimarker and rare variants genomewide association studies for bone weight in Simmental cattle.

Published in:

Journal of Animal Breeding & Genetics, 2018, v. 135, n. 3, p. 159, doi. 10.1111/jbg.12326

By:

Miao, J.;
Wang, X.;
Bao, J.;
Jin, S.;
Chang, T.;
Xia, J.;
Yang, L.;
Zhu, B.;
Xu, L.;
Zhang, L.;
Gao, X.;
Chen, Y.;
Li, J.;
Gao, H.

Publication type:

Article

Genotype and clinical phenotype of children with Marfan syndrome in Southeastern Anatolia.

Published in:

European Journal of Pediatrics, 2024, v. 183, n. 8, p. 3219, doi. 10.1007/s00431-024-05579-3

By:

Karaoglan, Murat;
Nacarkahya, Gulper;
Aytac, Emel Hatun;
Keskin, Mehmet

Publication type:

Article

Natural history and life-threatening complications in Myhre syndrome and review of the literature.

Published in:

2016

By:

Garavelli, Livia;
Maini, Ilenia;
Baccilieri, Federica;
Ivanovski, Ivan;
Pollazzon, Marzia;
Rosato, Simonetta;
Iughetti, Lorenzo;
Unger, Sheila;
Superti-Furga, Andrea;
Tartaglia, Marco

Publication type:

journal article

Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia.

Published in:

European Journal of Pediatrics, 2014, v. 173, n. 10, p. 1373, doi. 10.1007/s00431-014-2317-3

By:

Völter, Christiane;
Martínez, Ramón;
Hagen, Rudolf;
Kress, Wolfram

Publication type:

Article

Nevoid basal cell carcinoma syndrome with a unilateral giant ovarian fibroma in a Japanese 6-year-old girl.

Published in:

European Journal of Pediatrics, 2014, v. 173, n. 5, p. 667, doi. 10.1007/s00431-013-2200-7

By:

Jimbo, Takahiro;
Masumoto, Kouji;
Urita, Yasuhisa;
Takayasu, Hajime;
Shinkai, Toko;
Uesugi, Toru;
Gotoh, Chikashi;
Sakamoto, Naoya;
Sasaki, Takato;
Oto, Tatsuyuki;
Fukushima, Takashi;
Noguchi, Emiko;
Nakano, Yoshiro

Publication type:

Article

Expansion of Carraro syndrome or a new disorder?

Published in:

2010

By:

Sulko, Jerzy;
Miklaszewski, Krzysztof;
Podosek, Adam;
Kozlowski, Kazimierz

Publication type:

journal article

ARAPLBS: Robust and Efficient Elasticity‐Based Optimization of Weights and Skeleton Joints for Linear Blend Skinning with Parametrized Bones.

Published in:

Computer Graphics Forum, 2018, v. 37, n. 1, p. 32, doi. 10.1111/cgf.13161

By:

Thiery, J.‐M.;
Eisemann, E.

Publication type:

Article

Complicated Spinal Stenosis and Spinal Deformity in Patients with Achondroplasia: Case Series and Review of the Literature.

Published in:

Orthopaedic Surgery, 2024, v. 16, n. 12, p. 3059, doi. 10.1111/os.14246

By:

Fu, Wenyang;
Gao, Xianlei;
Wang, Xia;
Xu, Rongkun;
Li, Shangye;
Wang, Lianlei;
Liu, Xinyu

Publication type:

Article

Re-alignment-procedures for Skeletal Dysplasia in Three Patients with Genetically Diverse Syndromes.

Published in:

Orthopaedic Surgery, 2013, v. 5, n. 1, p. 33, doi. 10.1111/os.12023

By:

Al Kaissi, Ali;
Ganger, Rudolf;
Roetzer, Katharina M.;
Schwarzbraun, Thomas;
Klaushofer, Klaus;
Grill, Franz

Publication type:

Article

LRP5, Bone Mass Polymorphisms and Skeletal Disorders.

Published in:

Genes, 2023, v. 14, n. 10, p. 1846, doi. 10.3390/genes14101846

By:

Littman, Jake;
Yang, Wentian;
Olansen, Jon;
Phornphutkul, Chanika;
Aaron, Roy K.

Publication type:

Article

Hereditary Metabolic Bone Diseases: A Review of Pathogenesis, Diagnosis and Management.

Published in:

Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101880

By:

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

Publication type:

Article

Expanding the Clinical Phenotype of 19q Interstitial Deletions: A New Case with 19q13.32-q13.33 Deletion and Short Review of the Literature.

Published in:

2022

By:

Shelby, Elena-Silvia;
Morris, Michael;
Pădure, Liliana;
Mirea, Andrada;
Cocoș, Relu;
Cărămizaru, Alexandru;
Șerban-Sosoi, Simona;
Pîrvu, Andrei;
Streață, Ioana

Publication type:

Case Study

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

Phenotyping Zebrafish Mutant Models to Assess Candidate Genes Associated with Aortic Aneurysm.

Published in:

Genes, 2022, v. 13, n. 1, p. 123, doi. 10.3390/genes13010123

By:

Prendergast, Andrew;
Ziganshin, Bulat A.;
Papanikolaou, Dimitra;
Zafar, Mohammad A.;
Nicoli, Stefania;
Mukherjee, Sandip;
Elefteriades, John A.

Publication type:

Article

MED12 -Related (Neuro)Developmental Disorders: A Question of Causality.

Published in:

Genes, 2021, v. 12, n. 5, p. 663, doi. 10.3390/genes12050663

By:

van de Plassche, Stijn R.;
de Brouwer, Arjan P. M.;
Palumbo, Orazio

Publication type:

Article

The Identification of a Novel Fucosidosis-Associated FUCA1 Mutation: A Case of a 5-Year-Old Polish Girl with Two Additional Rare Chromosomal Aberrations and Affected DNA Methylation Patterns.

Published in:

Genes, 2021, v. 12, n. 1, p. 74, doi. 10.3390/genes12010074

By:

Domin, Agnieszka;
Zabek, Tomasz;
Kwiatkowska, Aleksandra;
Szmatola, Tomasz;
Deregowska, Anna;
Lewinska, Anna;
Mazur, Artur;
Wnuk, Maciej

Publication type:

Article

The Gollop–Wolfgang Complex: A Case Report.

Published in:

Pediatric Reports, 2025, v. 17, n. 2, p. 47, doi. 10.3390/pediatric17020047

By:

Kim, Jun-Bum;
Lee, Byung-Ryul;
Park, Jong-Seok;
Hong, Chang-Hwa;
Kwon, Sai-Won;
Kim, Woo-Jong;
Wang, Soon-Do;
Lee, Dong-Woo;
Nam, Kyeung-Min;
Jung, Ki-Jin

Publication type:

Article

Palmoplantar Keratoderma with Keratoconus.

Published in:

Middle East African Journal of Ophthalmology, 2018, v. 25, n. 1, p. 49, doi. 10.4103/meajo.MEAJO_221_17

By:

Gupta, Ved Prakash;
Chaudhari, Isha

Publication type:

Article

Human skeletal development and feeding behavior: the impact on oxygen isotopes.

Published in:

Archaeological & Anthropological Sciences, 2017, v. 9, n. 7, p. 1453, doi. 10.1007/s12520-017-0486-5

By:

Tuross, Noreen;
Reynard, Linda M.;
Harvey, Elizabeth;
Coppa, Alfredo;
McCormick, Michael

Publication type:

Article

Study of the relationship between vitamin D deficiency, sunlight incidence and skeletal/extra skeletal diseases.

Published in:

Acta Scientiarum: Health Sciences, 2020, v. 42, n. 1, p. 1, doi. 10.4025/actascihealthsci.v42i1.50599

By:

Barros Câmara, Alice;
Augusto Brandão, Igor

Publication type:

Article

A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case report.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00463-5

By:

Conde-Rubio, Paula;
García-Malinis, Ana Julia;
Salvador-Rupérez, Elvira;
Izquierdo Álvarez, Silvia;
González-Tarancón, Ricardo

Publication type:

Article

A novel mutation in the SOX5 gene c.1627del; p.(Tyr543IlefsTer14) is associated to Lamb–Shaffer syndrome: a case report.

Published in:

2023

By:

Cuenca Alcocel, Jose;
Criado Álamo, Elena;
Salvador-Rupérez, Elvira;
Goñi Ros, Nuria;
Izquierdo Álvarez, Silvia;
Peña Segura, Jose Luis;
González-Tarancón, Ricardo

Publication type:

Case Study

Annular pancreas in Trichorhinophalangeal syndrome type II with 8q23.3-q24.12 interstitial deletion.

Published in:

2015

By:

Qi Li;
Zhen Zhang;
Yuchun Yan;
Ping Xiao;
Zhijie Gao;
Wei Cheng;
Lin Su;
Kaihui Yu;
Hua Xie;
Xiaoli Chen;
Qian Jiang;
Long Li

Publication type:

Case Study

Joint shape morphogenesis precedes cavitation of the developing hip joint.

Published in:

Journal of Anatomy, 2014, v. 224, n. 4, p. 482, doi. 10.1111/joa.12143

By:

Nowlan, Niamh C.;
Sharpe, James

Publication type:

Article

A comparative study of the ocular skeleton of fossil and modern chondrichthyans.

Published in:

Journal of Anatomy, 2009, v. 214, n. 6, p. 848, doi. 10.1111/j.1469-7580.2009.01077.x

By:

Pilgrim, Brettney L.;
Franz-Odendaal, Tamara A.

Publication type:

Article

C-type natriuretic peptide analog treatment of craniosynostosis in a Crouzon syndrome mouse model.

Published in:

PLoS ONE, 2018, v. 13, n. 7, p. 1, doi. 10.1371/journal.pone.0201492

By:

Holmes, Greg;
Zhang, Lening;
Rivera, Joshua;
Murphy, Ryan;
Assouline, Claudia;
Sullivan, Lorraine;
Oppeneer, Todd;
Jabs, Ethylin Wang

Publication type:

Article

Safety and Efficacy of Percutaneous Nephrolithotomy in Patients with Severe Skeletal Deformities.

Published in:

Urology Journal, 2017, v. 14, n. 3, p. 3054

By:

Mousavi-bahar, Seyed Habibollah;
Amirhasani, Shahriar;
Mohseni, Maede;
Daneshdoost, Rezgar

Publication type:

Article

Impaired endochondral ossification in a skeletally immature dog: implications for femoral cleft formation and suspected incomplete femoral ossification.

Published in:

2024

By:

Guy, P.;
Le Roux, C.

Publication type:

Case Study

How Does Social Inequality Alter Relationships Between Porous Cranial Lesions and Mortality? Examining the Relationship Between Skeletal Indicators of Stress, Socioeconomic Status, and Survivorship in a Pediatric Autopsy Sample.

Published in:

American Journal of Human Biology, 2025, v. 37, n. 1, p. 1, doi. 10.1002/ajhb.24164

By:

Wyatt, Bronwyn;
O'Donnell, Lexi

Publication type:

Article

Skeletal anomalies in reared European fish larvae and juveniles. Part 1: normal and anomalous skeletogenic processes.

Published in:

Reviews in Aquaculture, 2013, v. 5, p. S99, doi. 10.1111/raq.12015

By:

Boglione, Clara;
Gavaia, Paulo;
Koumoundouros, Giorgos;
Gisbert, Enric;
Moren, Mari;
Fontagné, Stéphanie;
Witten, Paul Eckhard

Publication type:

Article

Skeletal anomalies in reared European fish larvae and juveniles. Part 2: main typologies, occurrences and causative factors.

Published in:

Reviews in Aquaculture, 2013, v. 5, p. S121, doi. 10.1111/raq.12016

By:

Boglione, Clara;
Gisbert, Enric;
Gavaia, Paulo;
E. Witten, Paul;
Moren, Mori;
Fontagné, Stéphanie;
Koumoundouros, Giorgos

Publication type:

Article

Osteonecrosis of the mandible associated with bisphosphonate therapy: report of a case with surgical intervention.

Published in:

Oral Surgery (1752-2471), 2009, v. 2, n. 3, p. 153, doi. 10.1111/j.1752-248X.2010.001057.x

By:

Mochizuki, Y.;
Omura, K.;
Kaneoya, A.;
Kayamori, K.;
Yamaguchi, A.

Publication type:

Article

Infantile systemic hyalinosis: Variable grades of severity.

Published in:

2021

By:

Al Kaissi, Ali;
Hilmi, Marwa;
Betadolova, Zulfiya;
Bouchoucha, Sami;
Trofimova, Svetlana;
Shboul, Mohammad;
Rustamov, Guseyn;
Dwera, Wiam;
Sigl, Katharina;
Kenis, Vladimir;
Kircher, Susanne;
Kircher, Susanne Gerit

Publication type:

journal 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

Incidence of Skeletal diseases affecting Long bones in Growing dogs - A Radiographic survey.

Published in:

Intas Polivet, 2012, v. 13, n. 2, p. 337

By:

Kushwaha, R. B.;
Aithal, H. P.;
Kinjavdekar, P.;
Amarpal;
Kumar, K.

Publication type:

Article

Anterior chest wall deformities in children with neurofibromatosis type 1.

Published in:

Acta Paediatrica, 2021, v. 110, n. 2, p. 594, doi. 10.1111/apa.15529

By:

Chelleri, Cristina;
Guerriero, Vittorio;
Torre, Michele;
Brolatti, Noemi;
Piccolo, Gianluca;
Mattioli, Girolamo;
Boero, Silvio;
Minetti, Carlo;
Diana, Maria Cristina

Publication type:

Article