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Items: 1 to 20 of 107

1.

Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family.

Ajmal M, Mir A, Wahid S, Khor CC, Foo JN, Siddiqi S, Kauser M, Malik SA, Nasir M.

BMC Med Genet. 2017 Dec 13;18(1):148. doi: 10.1186/s12881-017-0506-4.

2.

Dealing with sub-trochanteric fracture in a child with osteopetrosis : A case report.

Behera P, Khurana A, Saibaba B, Aggarwal S.

Acta Orthop Belg. 2016 Dec;82(4):907-912.

PMID:
29182138
3.

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

Zhang X, Wei Z, He J, Wang C, Zhang Z.

Postgrad Med. 2017 Nov;129(8):934-942. doi: 10.1080/00325481.2017.1386529. Epub 2017 Oct 11.

PMID:
28975865
4.

Decompressive Cranioplasty in a Patient with Osteopetrosis.

Alsahlawi A, Ekhzaimy A, Alshowair D, Ajlan A.

World Neurosurg. 2017 Dec;108:991.e1-991.e5. doi: 10.1016/j.wneu.2017.08.146. Epub 2017 Sep 1.

PMID:
28867326
5.

Successful open reduction and internal fixation for displaced femoral fracture in a patient with osteopetrosis: Case report and lessons learned.

Huang J, Pan J, Xu M, Xu S.

Medicine (Baltimore). 2017 Aug;96(33):e7777. doi: 10.1097/MD.0000000000007777.

6.

Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families.

Zhang XY, He JW, Fu WZ, Wang C, Zhang ZL.

Acta Pharmacol Sin. 2017 Nov;38(11):1456-1465. doi: 10.1038/aps.2017.108. Epub 2017 Aug 17.

PMID:
28816234
7.

Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group.

Wu CC, Econs MJ, DiMeglio LA, Insogna KL, Levine MA, Orchard PJ, Miller WP, Petryk A, Rush ET, Shoback DM, Ward LM, Polgreen LE.

J Clin Endocrinol Metab. 2017 Sep 1;102(9):3111-3123. doi: 10.1210/jc.2017-01127. Review.

PMID:
28655174
8.

Case report: A 10 years follow-up of periprosthetic femoral fracture after total hip arthroplasty in osteopetrosis.

Zhang ZF, Wang D, Wu LD, Dai XS.

Chin J Traumatol. 2017 Jun;20(3):173-176. doi: 10.1016/j.cjtee.2017.02.001. Epub 2017 May 10.

9.

Infantile Osteopetrosis in a Kazakh Boy.

Cainelli F, Tastanbekova V, Nurgaliev D, Lim N, Vento S.

Isr Med Assoc J. 2017 Jan;19(1):65-66. No abstract available.

10.

Osteopetrosis.

Yaga U, Panta P.

N Engl J Med. 2017 Apr 20;376(16):e34. doi: 10.1056/NEJMicm1609871. No abstract available.

11.

Traumatic multiple cervical spine injuries in a patient with osteopetrosis and its management.

Rathod AK, Dhake RP, Borde MD.

Eur Spine J. 2017 May;26(Suppl 1):229-235. doi: 10.1007/s00586-017-5083-x. Epub 2017 Apr 9.

PMID:
28393275
12.

Case Report of Clinical Vignette: Osteopetrosis.

Moore JB, Hoang TD, Shwayhat AF.

Mil Med. 2017 Mar;182(3):e1886-e1888. doi: 10.7205/MILMED-D-16-00234.

PMID:
28290981
13.

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

Sağlam D, Bilgici MC, Bekçi T, Albayrak C, Albayrak D.

Skeletal Radiol. 2017 May;46(5):701-704. doi: 10.1007/s00256-017-2595-8. Epub 2017 Feb 23.

PMID:
28233026
14.

A paradoxical presentation of rickets and secondary osteomyelitis of the jaw in Type II autosomal dominant osteopetrosis: Rare case reports.

Jayachandran S, Kumar MS.

Indian J Dent Res. 2016 Nov-Dec;27(6):667-671. doi: 10.4103/0970-9290.199603.

15.

Hematopoietic stem cell transplantation corrects osteopetrosis in a child carrying a novel homozygous mutation in the FERMT3 gene.

Palagano E, Slatter MA, Uva P, Menale C, Villa A, Abinun M, Sobacchi C.

Bone. 2017 Apr;97:126-129. doi: 10.1016/j.bone.2017.01.012. Epub 2017 Jan 14.

PMID:
28095295
16.

Clinical Characteristics and Treatment of Osteopetrosis Complicated by Osteomyelitis of the Mandible.

Sun HJ, Xue L, Wu CB, Zhou Q.

J Craniofac Surg. 2016 Nov;27(8):e728-e730. doi: 10.1097/SCS.0000000000003048.

PMID:
28005799
17.

Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.

George A, Zand DJ, Hufnagel RB, Sharma R, Sergeev YV, Legare JM, Rice GM, Scott Schwoerer JA, Rius M, Tetri L, Gamm DM, Bharti K, Brooks BP.

Am J Hum Genet. 2016 Dec 1;99(6):1388-1394. doi: 10.1016/j.ajhg.2016.11.004. Epub 2016 Nov 23.

18.

Dental care approach in patients with osteopetrosis.

Detailleur V, Vansteenkiste G, Renard M, Verdonck A.

Eur Arch Paediatr Dent. 2016 Dec;17(6):435-443. Epub 2016 Nov 17.

PMID:
27858309
19.

Homozygous deletion of RAG1, RAG2 and 5' region TRAF6 causes severe immune suppression and atypical osteopetrosis.

Weisz Hubshman M, Basel-Vanagaite L, Krauss A, Konen O, Levy Y, Garty BZ, Smirin-Yosef P, Maya I, Lagovsky I, Taub E, Marom D, Gaash D, Shichrur K, Avigad S, Hayman-Manzur L, Villa A, Sobacchi C, Shohat M, Yaniv I, Stein J.

Clin Genet. 2017 Jun;91(6):902-907. doi: 10.1111/cge.12916. Epub 2017 Mar 19.

PMID:
27808398
20.

Phenotypic severity of autosomal dominant osteopetrosis type II (ADO2) mice on different genetic backgrounds recapitulates the features of human disease.

Alam I, McQueen AK, Acton D, Reilly AM, Gerard-O'Riley RL, Oakes DK, Kasipathi C, Huffer A, Wright WB, Econs MJ.

Bone. 2017 Jan;94:34-41. doi: 10.1016/j.bone.2016.10.016. Epub 2016 Oct 14.

PMID:
27746321

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