Works matching Osteopetrosis

Results: 970

Osteopetrosis, calcificación más allá del sistema óseo. Reporte de un caso.

Published in:

Boletín Médico del Hospital Infantil de México, 2012, v. 69, n. 2, p. 116

By:

Osuna, Patricia Mejía;
Santos-Guzmán, Jesús;
Villela, Luis;
Cedillo-Alemán, Enrique Javier;
García, Adrián

Publication type:

Article

Fractura subtrocantérica en osteopetrosis tipo II autosómica dominante. Reporte de un caso.

Published in:

2006

By:

Martínez Flores, Lucio M.;
Zenteno Chávez, Benigno;
Rodríguez Ramírez, Sixto

Publication type:

Report

Haploidentical haematopoietic stem cell transplantation for malignant infantile osteopetrosis and intermediate osteopetrosis: a retrospective analysis of a single centre.

Published in:

2021

By:

Zhu, Guanghua;
Wei, Ang;
Wang, Bin;
Yang, Jun;
Yan, Yan;
Wang, Kai;
Jia, Chenguang;
Luo, Yanhui;
Li, Sidan;
Zhou, Xuan;
Wang, Tianyou;
Zheng, Huyong;
Qin, Maoquan

Publication type:

journal article

Patient-Reported Outcomes in Autosomal Dominant Osteopetrosis: Findings From the Osteopetrosis Registry Study.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2025, v. 110, n. 3, p. e607, doi. 10.1210/clinem/dgae285

By:

Polgreen, Lynda E;
Villa-Lopez, Eva;
Chen, Liz;
Liu, Ziyue;
Katz, Amy;
Parks-Schenck, Corinne;
Hart, Marian;
Imel, Erik A;
Econs, Michael J

Publication type:

Article

Novel CLCN7 mutations cause autosomal dominant osteopetrosis type II and intermediate autosomal recessive osteopetrosis.

Published in:

Molecular Medicine Reports, 2019, v. 19, n. 6, p. 5030, doi. 10.3892/mmr.2019.10123

By:

Li, Li;
Lv, Shan-Shan;
Wang, Chun;
Yue, Hua;
Zhang, Zhen-Lin

Publication type:

Article

Neurological aspects of osteopetrosis.

Published in:

Neuropathology & Applied Neurobiology, 2003, v. 29, n. 2, p. 87, doi. 10.1046/j.1365-2990.2003.00474.x

By:

Steward, C. G.

Publication type:

Article

Clinical and imaging features of malignant infantile osteopetrosis.

Published in:

Turkish Journal of Pediatrics, 2017, v. 59, n. 4, p. 452, doi. 10.24953/turkjped.2017.04.012

By:

Tfifha, Miniar;
Gaha, Mehdi;
Gamaoun, Wided;
Chemli, Jalel;
Mabrouk, Sameh;
Hassayoun, Saida;
Zouari, Noura;
Jemni, Hela;
Abroug, Saoussen

Publication type:

Article

Identification of novel mutation in RANKL by whole‐exome sequencing in a Thai family with osteopetrosis; a case report and review of RANKL osteopetrosis.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1727

By:

Lertwilaiwittaya, Pongtawat;
Suktitipat, Bhoom;
Khongthon, Phongphak;
Pongsapich, Warut;
Limwongse, Chanin;
Pithukpakorn, Manop

Publication type:

Article

Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADOII) and intermediate autosomal recessive osteopetrosis (ARO) in seven Chinese families.

Published in:

2017

By:

Zhang, Xiaoya;
Wei, Zhanying;
He, Jinwei;
Wang, Chun;
Zhang, Zhenlin

Publication type:

journal article

A novel missense mutation in the CLCN7 gene linked to benign autosomal dominant osteopetrosis: a case series.

Published in:

2013

By:

Rashid, Ban Mousa;
Rashid, Nawshirwan Gafoor;
Schulz, Ansgar;
Lahr, Georgia;
Nore, Beston Faiek

Publication type:

journal article

The virulence gene and clinical phenotypes of osteopetrosis in the Chinese population: six novel mutations of the CLCN7 gene in twelve osteopetrosis families.

Published in:

Journal of Bone & Mineral Metabolism, 2012, v. 30, n. 3, p. 338, doi. 10.1007/s00774-011-0319-z

By:

Wang, Chun;
Zhang, Hao;
He, Jin-Wei;
Gu, Jie-Mei;
Hu, Wei-Wei;
Hu, Yun-Qiu;
Li, Miao;
Liu, Yu-Juan;
Fu, Wen-Zhen;
Yue, Hua;
Ke, Yao-Hua;
Zhang, Zhen-Lin

Publication type:

Article

Diagnosis: Infantile Malign Osteopetrosis.

Published in:

2014

By:

Taner, Sevgin;
Fettah, Ali;
Yaralı, Neşe;
Seçer, Sevde;
Ağlamış, Özge;
Tunç, Bahattin

Publication type:

Case Study

A Neonatal Case of Infantile Malignant Osteopetrosis Presenting with Thrombocytopenia and Hypotonicity: A Novel Mutation in Chloride Voltage-Gated Channel 7 Gene.

Published in:

Medical Bulletin of Sisli Etfal Hospital, 2022, v. 56, n. 1, p. 161, doi. 10.14744/SEMB.2021.88964

By:

Al, Isik Odaman;
Oymak, Yesim;
Hazan, Filiz;
Gursoy, Semra;
Ozturk, Tulay;
Bag, Ozlem;
Gozmen, Salih;
Karakaya, Nurgul;
Karapinar, Tuba Hilkay

Publication type:

Article

Malign Infantil Osteopetrozis: Olgu Sunumu.

Published in:

2014

By:

Güleç, Seda Geylani;
Ocak, Seda;
Çetinçelik, Ümran;
Köse, Gülşen;
Yıldırmak, Yıldız

Publication type:

Case Study

A novel CLCN7 mutation resulting in a most severe form of autosomal recessive osteopetrosis.

Published in:

2009

By:

Besbas, Nesrin;
Draaken, Markus;
Ludwig, Michael;
Deren, Ozgur;
Orhan, Diclehan;
Bilginer, Yelda;
Ozaltin, Fatih

Publication type:

journal article

OSTEOPETROSIS.

Published in:

Guident, 2012, v. 5, n. 5, p. 66

By:

Mouli, Chandra

Publication type:

Article

Spectrum of Skeletal Imaging Features in Osteopetrosis: Inheritance Pattern and Radiological Associations.

Published in:

Genes, 2022, v. 13, n. 11, p. 1965, doi. 10.3390/genes13111965

By:

Spinnato, Paolo;
Pedrini, Elena;
Petrera, Miriana Rosaria;
Zarantonello, Paola;
Trisolino, Giovanni;
Sangiorgi, Luca;
Carpenzano, Maria;
Crombé, Amandine;
Tetta, Cecilia

Publication type:

Article

Identification and Characterization of a Novel CLCN7 Variant Associated with Osteopetrosis.

Published in:

Genes, 2020, v. 11, n. 11, p. 1242, doi. 10.3390/genes11111242

By:

Bug, Dmitrii S.;
Barkhatov, Ildar M.;
Gudozhnikova, Yana V.;
Tishkov, Artem V.;
Zhulin, Igor B.;
Petukhova, Natalia V.

Publication type:

Article

Cervical spine fractures in osteopetrosis: a case report and review of the literature.

Published in:

Journal of Biomedical Research, 2018, v. 32, n. 1, p. 68, doi. 10.7555/JBR.32.20170055

By:

Ahmadpour, Arjang;
Goodarzi, Amir;
Lee, Darrin J.;
Panchal, Ripul R.;
Kim, Kee D.

Publication type:

Article

Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 5, p. 664, doi. 10.1038/ejhg.2008.234

By:

Bliznetz, Elena A.;
Tverskaya, Svetlana M.;
Zinchenko, Rena A.;
Abrukova, Anna V.;
Savaskina, Ekaterina N.;
Nikulin, Maxim V.;
Kirillov, Alexander G.;
Ginter, Evgeny K.;
Polyakov, Alexander V.

Publication type:

Article

Osteomyelitis of the jaws associated with osteopetrosis: case report of two sisters.

Published in:

Oral Surgery (1752-2471), 2013, v. 6, n. 2, p. 73, doi. 10.1111/ors.12007

By:

Adachi, M.;
Iwai, T.;
Watanuki, K.;
Masuda, G.;
Tohnai, I.

Publication type:

Article

Anterior cervical arthrodesis for chronic hangman's fracture in a patient with osteopetrosis: a case report.

Published in:

2018

By:

Yamane, Kentaro;
Kai, Nobuo

Publication type:

journal article

Recommendations for fracture management in patients with osteopetrosis: case report.

Published in:

2015

By:

Olarte, Carlos;
Farfán, Miguel;
Pesantez, Rodrigo;
Suárez, Sebastian;
Vallejo, Linda

Publication type:

Report

Rheumatoid arthritis associated with osteopetrosis.

Published in:

Modern Rheumatology, 2009, v. 19, n. 6, p. 687, doi. 10.3109/s10165-009-0208-7

By:

Kadono, Yuho;
Tanaka, Sakae;
Nishino, Jinju;
Nishimura, Keita;
Nakamura, Ichiro;
Miyazaki, Tsuyoshi;
Takayanagi, Hiroshi;
Nakamura, Kozo

Publication type:

Article

Osteopetrosis: A Case Report and Review of the Literature.

Published in:

2014

By:

O., Emadian;
F., Montazer;
M., Kariminasab;
M., Shayesteh Azar;
M., Sajjadi Saravi;
S. M. M., Daneshpoor

Publication type:

Case Study

Allogenic hematopoietic stem cell transplantation in an Iranian patient with osteopetrosis caused by carbonic anhydrase II deficiency: A case report.

Published in:

Pediatric Transplantation, 2024, v. 28, n. 3, p. 1, doi. 10.1111/petr.14689

By:

Shamsian, Bibi Shahin;
Momtazmanesh, Nader;
Saneifard, Hedyeh;
Tabatabaei, Seyed Mohammad Taghi Hosseini;
Jafari, Mohammadreza;
pour, Zahra Khafaf;
Al‐Hussieni, Kawthar Jasim Mohammad Rida;
Jamee, Mahnaz;
Kamfar, Sharareh

Publication type:

Article

Hypercalcemia and altered biochemical bone markers in post-bone marrow transplantation osteopetrosis: A case report and literature review.

Published in:

Pediatric Transplantation, 2012, v. 16, n. 5, p. E140, doi. 10.1111/j.1399-3046.2011.01475.x

By:

Kulpiya, Alisa;
Mahachoklertwattana, Pat;
Pakakasama, Samart;
Hongeng, Suradej;
Poomthavorn, Preamrudee

Publication type:

Article

Osteopetrosis Presenting with Neonatal Thrombocytopenia: A Case Report.

Published in:

Iranian Journal of Neonatology, 2018, v. 9, n. 4, p. 84, doi. 10.22038/ijn.2018.32097.1445

By:

Kazemian, Mohammad;
Fallahi, Minoo;
Fakhraee, Seyed Hossein;
Alavi, Samin;
Taleghani, Naeeme Taslimi;
Sani, Sara

Publication type:

Article

Infantile osteopetrosis with delayed development, organomegaly and wandering eyes: case report.

Published in:

Paediatrics & International Child Health, 2024, v. 44, n. 2, p. 52, doi. 10.1080/20469047.2024.2335423

By:

Prithvi, Ashwini;
Kodethoor, Dhrithi;
K, Sushma;
Lewin, Sanjiv

Publication type:

Article

A Case of Osteopetrosis with Orbital Inflammation Secondary to Maxillary Osteomyelitis.

Published in:

2024

By:

Misaki, Takafumi;
Murao, Fumiko;
Shinomiya, Kayo;
Tani, Akihiro;
Yamada, Masayuki;
Mitamura, Yoshinori

Publication type:

Case Study

A RARE CASE OF FAILURE TO THRIVE IN INFANTS: MALIGNANT INFANTILE OSTEOPETROSIS.

Published in:

Jurnalul Pediatrului, 2013, v. 16, n. 63, p. 49

By:

Stroescu, Ramona;
Bizerea, Teofana;
Pop, Elena;
Mărginean, Otilia;
Micle, Ioana;
Dobre, Mihaela

Publication type:

Article

A new osteopetrosis mutant mouse strain (ntl) with odontoma-like proliferations and lack of tooth roots.

Published in:

European Journal of Oral Sciences, 2009, v. 117, n. 6, p. 625, doi. 10.1111/j.1600-0722.2009.00690.x

By:

Lu, Xincheng;
Rios, Hector F.;
Jiang, Baichun;
Xing, Lianping;
Kadlcek, Renata;
Greenfield, Edward M.;
Luo, Guangbin;
Feng, Jian Q.

Publication type:

Article

Minimally invasive cardiac surgery in a patient with osteopetrosis and symptomatic mitral regurgitation.

Published in:

Journal of Cardiac Surgery, 2021, v. 36, n. 2, p. 709, doi. 10.1111/jocs.15153

By:

Kono, Takanori;
Takagi, Kazuyoshi;
Tayama, Eiki

Publication type:

Article

Human-Aided Movement of Viral Disease and the Archaeology of Avian Osteopetrosis.

Published in:

International Journal of Osteoarchaeology, 2017, v. 27, n. 5, p. 853, doi. 10.1002/oa.2599

By:

Fothergill, B. Tyr

Publication type:

Article

Type II autosomal dominant osteopetrosis.

Published in:

Rheumatology International, 2002, v. 22, n. 3, p. 116, doi. 10.1007/s00296-002-0200-4

By:

Senel, Kazim;
Ugur, Mahir;
Erdal, Akin;
Özdemir, Hasan

Publication type:

Article

Middle cerebral arterial occlusion in a child with osteopetrosis major.

Published in:

2001

By:

Tasdemir, H. A.;
Dagdemir, A.;
Celenk, C.;
Albayrak, D.

Publication type:

journal article

Endoscopic third ventriculostomy for hydrocephalus in osteopetrosis: a case report and review of the literature.

Published in:

Child's Nervous System, 2018, v. 34, n. 5, p. 991, doi. 10.1007/s00381-018-3719-8

By:

Akutsu, Nobuyuki;
Koyama, Junji;
Kawamura, Atsufumi;
Nagashima, Tatsuya;
Taniguchi, Masaaki;
Kohmura, Eiji

Publication type:

Article

Endoscopic third ventriculostomy for the treatment of osteopetrosis-related hydrocephalus: a case-based update.

Published in:

Child's Nervous System, 2011, v. 27, n. 11, p. 1861, doi. 10.1007/s00381-011-1474-1

By:

Dhamija, Bhoresh;
Pettorini, Benedetta;
Solanki, Guirish

Publication type:

Article

A Case of Cytomegalovirus Infection in a Neonate with Osteopetrosis.

Published in:

2016

By:

Sang Hyun Lee;
Jeong Hee Shin;
Byung Min Choi;
Yun-Kyung Kim

Publication type:

Case Study

Successful total hip arthroplasty for autosomal dominant osteopetrosis complicated by hip osteoarthritis: A case report and review of the literature.

Published in:

Experimental & Therapeutic Medicine, 2020, v. 19, n. 4, p. 2702, doi. 10.3892/etm.2020.8503

By:

Gao, Xiaoming;
Cheng, Qian;
Zhang, Xiaofei;
Zhao, Guoyang

Publication type:

Article

Debridement in chronic osteomyelitis with benign osteopetrosis: A case report.

Published in:

Experimental & Therapeutic Medicine, 2016, v. 12, n. 5, p. 2811, doi. 10.3892/etm.2016.3706

By:

YU-PING LIU;
XIANG-HUA LIN;
MAN-YUN YAN;
BAO-QUAN LIN;
MING-YING ZHUO

Publication type:

Article

DNA-based diagnosis of malignant osteopetrosis by whole-genome scan using a single-nucleotide polymorphism microarray: standardization of molecular investigations of genetic diseases due to consanguinity.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 1, p. 98, doi. 10.1007/s10038-006-0075-4

By:

Lam, Ching-Wan;
Tong, Sui-Fan;
Wong, Keong;
Luo, Y. F.;
Tang, Hoi-Yin;
Ha, Shau-Yin;
Chan, Michael Ho-Ming

Publication type:

Article

Electron Microscopic Findings in Skin Biopsies from Patients with Infantile Osteopetrosis and Neuronal Storage Disease.

Published in:

Ultrastructural Pathology, 2007, v. 31, n. 5, p. 333, doi. 10.1080/01913120701578098

By:

Alroy, Joseph;
Pfannl, Rolf;
Ucci, Angelo;
Lefranc, Gérard;
Frattini, Annalisa;
Mégarbané, André

Publication type:

Article

Incidental finding of osteopetrosis complicated with osteomyelitis.

Published in:

Clinical Cases in Mineral & Bone Metabolism, 2018, v. 15, n. 3, p. 371

By:

Ali, Ibrahim K.;
Sansare, Kaustubh;
Karjodkar, Freny R.

Publication type:

Article

The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis.

Published in:

Clinical Genetics, 2017, v. 92, n. 1, p. 80, doi. 10.1111/cge.12804

By:

Shamriz, O.;
Shaag, A.;
Yaacov, B.;
NaserEddin, A.;
Weintraub, M.;
Elpeleg, O.;
Stepensky, P.

Publication type:

Article

A founder mutation in the TCIRG1 gene causes osteopetrosis in the Ashkenazi Jewish population.

Published in:

Clinical Genetics, 2015, v. 88, n. 1, p. 74, doi. 10.1111/cge.12448

By:

Anderson, S.L.;
Jalas, C.;
Fedick, A.;
Reid, K.F.;
Carpenter, T.O.;
Chirnomas, D.;
Treff, N.R.;
Ekstein, J.;
Rubin, B.Y.

Publication type:

Article

Successful complete oral rehabilitation of a patient with osteopetrosis with extensive pre-treatments, bone grafts, dental implants and fixed bridges: a multidisciplinary case report.

Published in:

BMC Oral Health, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12903-023-03707-3

By:

Kelk, P.;
Fasth, A.;
Holgerson, PLif;
Sjöström, M.

Publication type:

Article

Autosomal recessive osteopetrosis with a unique imaging finding: multiple encephaloceles.

Published in:

2017

By:

Sağlam, Dilek;
Bilgici, Meltem;
Bekçi, Tümay;
Albayrak, Canan;
Albayrak, Davut;
Sağlam, Dilek;
Bilgici, Meltem Ceyhan;
Bekçi, Tümay

Publication type:

journal article

Acquired encephaloceles and epilepsy in osteopetrosis.

Published in:

Acta Neurochirurgica, 2007, v. 149, n. 1, p. 79, doi. 10.1007/s00701-006-1070-4

By:

Mandl, E. S.;
Buis, D. R.;
Heimans, J. J.;
Peerdeman, S. M.

Publication type:

Article

Periprosthetic fracture of total hip replacement in patients with osteopetrosis: A case presentation and review of literature.

Published in:

Journal of Frailty, Sarcopenia & Falls, 2022, v. 7, n. 4, p. 251, doi. 10.22540/JFSF-07-251

By:

Papagrigorakis, Eftychios;
Galanis, Athanasios;
Vlachos, Christos;
Vavourakis, Michail;
Zachariou, Dimitrios;
Vlamis, John;
Pneumaticos, Spiros

Publication type:

Article