Works matching DE "OSTEOPETROSIS"

Results: 437

Mortality After Iliosacral Screw Fixation for Osteoporotic Pelvic Ring Fractures.

Published in:

Geriatric Orthopaedic Surgery & Rehabilitation, 2025, p. 1, doi. 10.1177/21514593251327912

By:

Böhringer, Alexander;
Gebhard, Florian;
Eickhoff, Alexander;
Cintean, Raffael;
Gruber, Tobias;
Schütze, Konrad;
Pankratz, Carlos

Publication type:

Article

Immunohistochemical evaluation of microphthalmia-associated transcription factor expression in giant cell lesions.

Published in:

Modern Pathology, 2004, v. 17, n. 12, p. 1491, doi. 10.1038/modpathol.3800211

By:

Seethala, Raja R;
Goldblum, John R;
Hicks, David G;
Lehman, Micheal;
Khurana, Jasvir S;
Pasha, Terry L;
Zhang, Paul J

Publication type:

Article

Complications of anesthesia for children with malignant infantile osteopetrosis before and after hematopoietic stem cell transplantation L.L. BURGOYNE ET AL. ANESTHESIA FOR MALIGNANT INFANTILE OSTEOPETROSIS.

Published in:

Pediatric Anesthesia, 2010, v. 20, n. 11, p. 1046, doi. 10.1111/j.1460-9592.2010.03425.x

By:

BURGOYNE, LAURA L.;
KAUR, AMANPREET;
BILLUPS, CATHERINE A.;
PARISH, MARY-EDNA;
KADDOUM, ROLAND N.;
BIKHAZI, GEORGE B.;
PEREIRAS, LILIA A.

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

Sclerosing bone dysplasias: genetic and radioclinical features.

Published in:

2000

By:

Vanhoenacker, F. M.;
De Beuckeleer, L. H.;
Van Hul, W.;
Balemans, W.;
Tan, G. J.;
Hill, S. C.;
De Schepper, A. M.

Publication type:

journal article

Neonatal hydrocephalus: an atypical presentation of malignant infantile osteopetrosis.

Published in:

Child's Nervous System, 2021, v. 37, n. 12, p. 3695, doi. 10.1007/s00381-021-05345-y

By:

Lee, Angela;
Cortez, Samuel;
Yang, Peter;
Aum, Diane;
Singh, Prapti;
Gooch, Catherine;
Smyth, Matthew

Publication type:

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

Case update on cranial osteopetrosis: which is the role of the neurosurgeon?

Published in:

Child's Nervous System, 2017, v. 33, n. 12, p. 2181, doi. 10.1007/s00381-017-3553-4

By:

Stella, Irene;
Vinchon, Matthieu;
Guerreschi, Pierre;
De Berranger, Eva;
Bouacha, Ikram

Publication type:

Article

Osteopetrorickets Presenting with Failure to Thrive and Hypophosphatemia.

Published in:

Journal of the Endocrine Society, 2020, v. 4, n. 6, p. 1, doi. 10.1210/jendso/bvaa044

By:

Freese, Jurhee;
Greenup, Erin;
Sunil, Bhuvana;
Ashraf, Ambika P

Publication type:

Article

Plasma Therapy for Medication-Related Osteonecrosis of the Jaws-A Case Report.

Published in:

Case Reports in Clinical Practice, 2023, v. 8, n. 1, p. 1

By:

Sadrabad, Maryam Jalili;
Saberian, Elham

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

COMMON GENETIC DISEASES OF BEEF CATTLE : A REVIEW.

Published in:

Journal of Experimental Zoology India, 2018, v. 21, n. 2, p. 615

By:

Verma, Uma Kant;
Yousuf, Saleem;
Yadav, Hanuman Prasad;
Shah, Nadeem;
Singh, Ajeet

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

Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 7, p. 1, doi. 10.1002/mgg3.2494

By:

Lee, Chung‐Lin;
Chang, Yeun‐Wen;
Lin, Hsiang‐Yu;
Lee, Hung‐Chang;
Yeh, Ting‐Chi;
Fang, Li‐Ching;
Lee, Ni‐Chung;
Tsai, Jeng‐Daw;
Lin, Shuan‐Pei

Publication type:

Article

Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1815

By:

Liang, Huanhuan;
Li, Niu;
Yao, Ru‐en;
Yu, Tingting;
Ding, Lixia;
Chen, Jing;
Wang, Jian

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

Osteopetrosis associated with premature thymic involution in grey-lethal mice. In vitro studies of thymic microenvironment.

Published in:

Clinical & Experimental Immunology, 1983, v. 52, n. 3, p. 465

By:

Wiktor-Jedrezejczak, W.;
Grzybowski, J.;
Ahmed, A.;
Kaczmarek, L.

Publication type:

Article

Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians.

Published in:

2021

By:

Kaur, Parminder;
Panigrahi, Inusha;
Kaur, Harleen;
Singh, Thakurvir;
Chaudhry, Chakshu

Publication type:

Case Study

Oral bone loss in postmenopausal women.

Published in:: British Dental Journal, 2007, v. 203, n. 1, p. 7, doi. 10.1038/bdj.2007.601
Publication type:: Article

A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID).

Published in:

2010

By:

Roberts, Catherine M. L.;
Angus, Janet E.;
Leach, Ian H.;
McDermott, Elizabeth M.;
Walker, David A.;
Ravenscroft, Jane C.

Publication type:

journal article

Disorders Transmitted Genetically II. Autosomal Recessive Disorders.

Published in:: Clinical Pediatrics, 1970, v. 9, n. S1, p. 259
Publication type:: Article

Kisspeptin-10 binding to Gpr54 in osteoclasts prevents bone loss by activating Dusp18-mediated dephosphorylation of Src.

Published in:

Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-44852-9

By:

Li, Zhenxi;
Yang, Xinghai;
Fu, Ruifeng;
Wu, Zhipeng;
Xu, Shengzhao;
Jiao, Jian;
Qian, Ming;
Zhang, Long;
Wu, Chunbiao;
Xie, Tianying;
Yao, Jiqiang;
Wu, Zhixiang;
Li, Wenjun;
Ma, Guoli;
You, Yu;
Chen, Yihua;
Zhang, Han-kun;
Cheng, Yiyun;
Tang, Xiaolong;
Wu, Pengfei

Publication type:

Article

Mithramycin in the treatment of systemic mastocytosis.

Published in:

1975

By:

Conrad, Marcel E.;
Carpenter, Jr., John T.;
Todd III, John N.;
Murad, Tariq M.;
Conrad, M E;
Carpenter, J T Jr;
Todd, J N 3rd;
Murad, T M

Publication type:

journal article

Blindness as the presenting sign of osteopetrosis in a child.

Published in:

2022

By:

Mukherjee, Bipasha;
Agrawal, Aman;
Noronha, Olma

Publication type:

Case Study

Adolescent girl with blurry vision and pancytopenia.

Published in:: 2020
Publication type:: journal article

Hypocalcemia presenting with multifocal seizure in a baby with osteopetrosis.

Published in:: 2016
Publication type:: Letter

Hypocalcemia presenting with multifocal seizure in a baby with osteopetrosis.

Published in:

2016

By:

Singh, Tarun S;
Mehta, Bhavesh;
Trivedi, Amit

Publication type:

journal article

Scarcity Despite Wealth: Osteopetrorickets.

Published in:

2010

By:

Demirel, Fatma;
Esen, Ihsan;
Tunc, Bahattin;
Tavil, Betul

Publication type:

Case Study

High Dose Calcitriol in Osteopetrorickets.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2009, v. 22, n. 12, p. 1179, doi. 10.1515/JPEM.2009.22.12.1179

By:

Atay, A. Avni;
Kurekei, A. Emin;
Azik, Fatih Mehmet;
Gulgun, Mustafa;
Yavuz, Tolga;
Ozcan, Okan

Publication type:

Article

NEW MOLECULES IN THE TUMOR NECROSIS FACTOR LIGAND AND RECEPTOR SUPERFAMILIES WITH IMPORTANCE FOR PHYSIOLOGICAL AND PATHOLOGICAL BONE RESORPTION.

Published in:

Critical Reviews in Oral Biology & Medicine, 2004, v. 15, n. 2, p. 64, doi. 10.1177/154411130401500202

By:

Lerner, Ulf H.

Publication type:

Article

SNX10 regulates osteoclastogenic cell fusion and osteoclast size in mice.

Published in:

Journal of Bone & Mineral Research, 2024, v. 39, n. 10, p. 1503, doi. 10.1093/jbmr/zjae125

By:

Barnea-Zohar, Maayan;
Stein, Merle;
Reuven, Nina;
Winograd-Katz, Sabina;
Lee, Sooyeon;
Addadi, Yoseph;
Arman, Esther;
Tuckermann, Jan;
Geiger, Benjamin;
Elson, Ari

Publication type:

Article

SLC4A2 Deficiency Causes a New Type of Osteopetrosis.

Published in:

Journal of Bone & Mineral Research, 2022, v. 37, n. 2, p. 226, doi. 10.1002/jbmr.4462

By:

Xue, Jing‐Yi;
Grigelioniene, Giedre;
Wang, Zheng;
Nishimura, Gen;
Iida, Aritoshi;
Matsumoto, Naomichi;
Tham, Emma;
Miyake, Noriko;
Ikegawa, Shiro;
Guo, Long

Publication type:

Article

Efficient generation of osteoclasts from human induced pluripotent stem cells and functional investigations of lethal CLCN7‐related osteopetrosis.

Published in:

Journal of Bone & Mineral Research, 2021, v. 36, n. 8, p. 1621, doi. 10.1002/jbmr.4322

By:

Rössler, Uta;
Hennig, Anna Floriane;
Stelzer, Nina;
Bose, Shroddha;
Kopp, Johannes;
Søe, Kent;
Cyganek, Lukas;
Zifarelli, Giovanni;
Ali, Salaheddine;
von der Hagen, Maja;
Strässler, Elisabeth Tamara;
Hahn, Gabriele;
Pusch, Michael;
Stauber, Tobias;
Izsvák, Zsuzsanna;
Gossen, Manfred;
Stachelscheid, Harald;
Kornak, Uwe

Publication type:

Article

Insertion Mutation in Tnfrsf11a Causes a Paget's Disease–Like Phenotype in Heterozygous Mice and Osteopetrosis in Homozygous Mice.

Published in:

Journal of Bone & Mineral Research, 2021, v. 36, n. 7, p. 1376, doi. 10.1002/jbmr.4288

By:

Alonso, Nerea;
Wani, Sachin;
Rose, Lorraine;
van't Hof, Rob J.;
Ralston, Stuart H.;
Albagha, Omar M.E.

Publication type:

Article

Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC‐7 Mutants.

Published in:

Journal of Bone & Mineral Research, 2021, v. 36, n. 3, p. 531, doi. 10.1002/jbmr.4200

By:

Di Zanni, Eleonora;
Palagano, Eleonora;
Lagostena, Laura;
Strina, Dario;
Rehman, Asma;
Abinun, Mario;
De Somer, Lien;
Martire, Baldassarre;
Brown, Justin;
Kariminejad, Ariana;
Balasubramaniam, Shanti;
Baynam, Gareth;
Gurrieri, Fiorella;
Pisanti, Maria A;
De Maggio, Ilaria;
Abboud, Miguel R;
Chiesa, Robert;
Burren, Christine P;
Villa, Anna;
Sobacchi, Cristina

Publication type:

Article

Skeletal Changes After Hematopoietic Stem Cell Transplantation in Osteopetrosis.

Published in:

Journal of Bone & Mineral Research, 2020, v. 35, n. 9, p. 1645, doi. 10.1002/jbmr.4037

By:

Shapiro, Galina;
Fishleder, Jorge;
Stepensky, Polina;
Simanovsky, Naum;
Goldman, Vladimir;
Lamdan, Ron

Publication type:

Article

Adult Osteosclerotic Metaphyseal Dysplasia With Progressive Osteonecrosis of the Jaws and Abnormal Bone Resorption Pattern Due to a LRRK1 Splice Site Mutation.

Published in:

Journal of Bone & Mineral Research, 2020, v. 35, n. 7, p. 1322, doi. 10.1002/jbmr.3995

By:

Howaldt, Antonia;
Hennig, Anna Floriane;
Rolvien, Tim;
Rössler, Uta;
Stelzer, Nina;
Knaus, Alexej;
Böttger, Sebastian;
Zustin, Jozef;
Geißler, Sven;
Oheim, Ralf;
Amling, Michael;
Howaldt, Hans‐Peter;
Kornak, Uwe

Publication type:

Article

Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration.

Published in:

EMBO Journal, 2005, v. 24, n. 5, p. 1079, doi. 10.1038/sj.emboj.7600576

By:

Kasper, Dagmar;
Planells-Cases, Rosa;
Fuhrmann, Jens C.;
Scheel, Olaf;
Zeitz, Oliver;
Ruether, Klaus;
Schmitt, Anja;
Poët, Mallorie;
Steinfeld, Robert;
Schweizer, Michaela;
Kornak, Uwe;
Jentsch, Thomas J.

Publication type:

Article

Acute Symptomatic Seizures Due to Metabolic Derangements in Pediatrics.

Published in:

Journal of Pediatric Neurosciences, 2022, v. 17, n. 3, p. 231, doi. 10.4103/jpn.jpn_258_20

By:

Cornelius, Leema P.;
Elango, Neeraj;
Kuttavajeyaram, Venkateswaran

Publication type:

Article

Osteoclast activity modulates B-cell development in the bone marrow.

Published in:

Cell Research, 2011, v. 21, n. 7, p. 1102, doi. 10.1038/cr.2011.21

By:

Mansour, Anna;
Anginot, Adrienne;
Mancini, Stéphane J. C.;
Schiff, Claudine;
Carle, Georges F.;
Wakkach, Abdelilah;
Blin-Wakkach, Claudine

Publication type:

Article

Role of NF-κB in the skeleton.

Published in:

Cell Research, 2011, v. 21, n. 1, p. 169, doi. 10.1038/cr.2010.159

By:

Novack, Deborah Veis

Publication type:

Article

New knowledge on critical osteoclast formation and activation pathways from study of rare genetic diseases of osteoclasts: focus on the RANK/RANKL axis.

Published in:

Osteoporosis International, 2011, v. 22, n. 1, p. 1, doi. 10.1007/s00198-010-1272-8

By:

Crockett, J. C.;
Mellis, D. J.;
Scott, D. I.;
Helfrich, M. H.

Publication type:

Article

Pediatric Tumors of the Orbit and Optic Pathway.

Published in:

Pediatric Neurosurgery, 2003, v. 38, n. 3, p. 113, doi. 10.1159/000068814

By:

U. Schick;
W. Hassler

Publication type:

Article

Complete Visual Recovery in Osteopetrosis by Early Optic Nerve Decompression.

Published in:

Pediatric Neurosurgery, 2000, v. 33, n. 6, p. 328, doi. 10.1159/000055980

By:

Jeong-Min Hwang, Steven P.;
In-One Kim, Steven P.;
Kyu-Chang Wang

Publication type:

Article

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

Mice lacking JunB are osteopenic due to cell-autonomous osteoblast and osteoclast defects.

Published in:

Journal of Cell Biology, 2004, v. 164, n. 4, p. 613, doi. 10.1083/jcb.200308155

By:

Kenner, Lukas;
Hoebertz, Astrid;
Beil, Timo;
Keon, Niamh;
Karreth, Florian;
Eferl, Robert;
Scheuch, Harald;
Szremska, Agnieszka;
Amling, Michael;
Schorpp-Kistner, Marina;
Angel, Peter;
Wagner, Erwin F.

Publication type:

Article

Autoimmune Cytopenias Post Hematopoietic Stem Cell Transplantation in Pediatric Patients With Osteopetrosis and Other Nonmalignant Diseases.

Published in:

Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.879994

By:

Even-Or, Ehud;
Schejter, Yael Dinur;
NaserEddin, Adeeb;
Zaidman, Irina;
Shadur, Bella;
Stepensky, Polina

Publication type:

Article

Case Report: Osteosclerotic metaphyseal dysplasia with optic nerve involvement and progressive osteonecrosis of the jaw due to a novel LRRK1 mutation.

Published in:

Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1258340

By:

Pieridou, Chariklia;
Sabir, Ataf;
Lancashire, Jonathan;
Yifan Liang;
McMillan, Kevin;
Shaw, Nick;
Uday, Suma

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

The Treatment of Subtrochanteric Fracture with Reversed Contralateral Distal Femoral Locking Compression Plate (DF‐LCP) Using a Progressive and Intermittent Drilling Procedure in Three Osteopetrosis Patients.

Published in:

Orthopaedic Surgery, 2022, v. 14, n. 2, p. 254, doi. 10.1111/os.13112

By:

Tu, Yi;
Liu, Fan‐xiao;
Jia, Hong‐lei;
Yang, Juan‐juan;
Lv, Xiao‐long;
Li, Chao;
Wu, Jun‐wei;
Wang, Fu;
Yang, Yong‐liang;
Wang, Bo‐min

Publication type:

Article