177 related articles for article (PubMed ID: 24269275)
21. Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations.
Guerrini MM; Sobacchi C; Cassani B; Abinun M; Kilic SS; Pangrazio A; Moratto D; Mazzolari E; Clayton-Smith J; Orchard P; Coxon FP; Helfrich MH; Crockett JC; Mellis D; Vellodi A; Tezcan I; Notarangelo LD; Rogers MJ; Vezzoni P; Villa A; Frattini A
Am J Hum Genet; 2008 Jul; 83(1):64-76. PubMed ID: 18606301
[TBL] [Abstract][Full Text] [Related]
22. A Mutation in CTSK Gene in an Autosomal Recessive Pycnodysostosis Family of Chinese Origin.
Huang X; Qi X; Li M; Wang O; Jiang Y; Xing X; Hu YY; Xia W
Calcif Tissue Int; 2015 May; 96(5):373-8. PubMed ID: 25725806
[TBL] [Abstract][Full Text] [Related]
23. Whole-exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis.
Razmara E; Azimi H; Bitaraf A; Daneshmand MA; Galehdari M; Dokhanchi M; Esmaeilzadeh-Gharehdaghi E; Garshasbi M
Mol Genet Genomic Med; 2020 Mar; 8(3):e1118. PubMed ID: 31944631
[TBL] [Abstract][Full Text] [Related]
24. Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia.
Gannagé-Yared MH; Makrythanasis P; Chouery E; Sobacchi C; Mehawej C; Santoni FA; Guipponi M; Antonarakis SE; Hamamy H; Mégarbané A
Bone; 2014 Nov; 68():142-5. PubMed ID: 25180662
[TBL] [Abstract][Full Text] [Related]
25. Two novel mutations in TCIRG1 induced infantile malignant osteopetrosis: a case report.
Wu P; Cai Z; Jiang WH; Lu G; Wu PQ; Xie ZW; Peng JZ; Chen C; Qi JY; Xu LZ; Shen KL; Zeng HS; Yin GQ
BMC Pediatr; 2021 Jul; 21(1):297. PubMed ID: 34210262
[TBL] [Abstract][Full Text] [Related]
26. High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K.
Schilling AF; Mülhausen C; Lehmann W; Santer R; Schinke T; Rueger JM; Amling M
Osteoporos Int; 2007 May; 18(5):659-69. PubMed ID: 17206399
[TBL] [Abstract][Full Text] [Related]
27. Pycnodysostosis with novel gene mutation and severe obstructive sleep apnoea: management of a complex case.
Girbal I; Nunes T; Medeira A; Bandeira T
BMJ Case Rep; 2013 Sep; 2013():. PubMed ID: 24057333
[TBL] [Abstract][Full Text] [Related]
28. Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis.
Campeau PM; Lu JT; Sule G; Jiang MM; Bae Y; Madan S; Högler W; Shaw NJ; Mumm S; Gibbs RA; Whyte MP; Lee BH
Hum Mol Genet; 2012 Nov; 21(22):4904-9. PubMed ID: 22875837
[TBL] [Abstract][Full Text] [Related]
29. Dental Abnormalities Caused by Novel Compound Heterozygous CTSK Mutations.
Xue Y; Wang L; Xia D; Li Q; Gao S; Dong M; Cai T; Shi S; He L; Hu K; Mao T; Duan X
J Dent Res; 2015 May; 94(5):674-81. PubMed ID: 25731711
[TBL] [Abstract][Full Text] [Related]
30. Adult Osteosclerotic Metaphyseal Dysplasia With Progressive Osteonecrosis of the Jaws and Abnormal Bone Resorption Pattern Due to a LRRK1 Splice Site Mutation.
Howaldt A; Hennig AF; Rolvien T; Rössler U; Stelzer N; Knaus A; Böttger S; Zustin J; Geißler S; Oheim R; Amling M; Howaldt HP; Kornak U
J Bone Miner Res; 2020 Jul; 35(7):1322-1332. PubMed ID: 32119750
[TBL] [Abstract][Full Text] [Related]
31. A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes.
Song HK; Sohn YB; Choi YJ; Chung YS; Jang JH
Medicine (Baltimore); 2017 Mar; 96(12):e6367. PubMed ID: 28328823
[TBL] [Abstract][Full Text] [Related]
32. [Recessive osteopetrosis. Identification of a form of medium severity].
Bejaoui M; Baraket M; Lakhoua R; Mezni F; Hammou Jeddi A; Kamoun A; Kharrat H; Essoussi S; Harbi A; Ben Dridi MF
Arch Fr Pediatr; 1992; 49(7):627-31. PubMed ID: 1476480
[TBL] [Abstract][Full Text] [Related]
33. Osteopetrosis in South Africa. The benign, lethal and intermediate forms.
Beighton P; Hamersma H; Cremin BJ
S Afr Med J; 1979 Apr; 55(17):659-65. PubMed ID: 462288
[TBL] [Abstract][Full Text] [Related]
34. A novel mutation (R122Q) in the cathepsin K gene in a Chinese child with Pyknodysostosis.
Zheng H; Zhang Z; He JW; Fu WZ; Zhang ZL
Gene; 2013 May; 521(1):176-9. PubMed ID: 23506830
[TBL] [Abstract][Full Text] [Related]
35. [Oculo-orbital changes in osteopetrosis].
Csiszár A; Baghiu MD; Horváth A; Neghirla A; Rusu M; Maki C; Elekes E
Oftalmologia; 2006; 50(1):85-90. PubMed ID: 16773945
[TBL] [Abstract][Full Text] [Related]
36. Linking osteopetrosis and pycnodysostosis: regulation of cathepsin K expression by the microphthalmia transcription factor family.
Motyckova G; Weilbaecher KN; Horstmann M; Rieman DJ; Fisher DZ; Fisher DE
Proc Natl Acad Sci U S A; 2001 May; 98(10):5798-803. PubMed ID: 11331755
[TBL] [Abstract][Full Text] [Related]
37. Case report of mild TCIRG1-associated autosomal recessive osteopetrosis in Vietnam.
Luong LH; Nguyen HD; Trung TN; Minh TMT; Khanh TL; Son TP; Tran TD; Nguyen TT
Am J Med Genet A; 2022 Oct; 188(10):3096-3099. PubMed ID: 35915932
[TBL] [Abstract][Full Text] [Related]
38. A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin.
Naeem M; Sheikh S; Ahmad W
BMC Med Genet; 2009 Aug; 10():76. PubMed ID: 19674475
[TBL] [Abstract][Full Text] [Related]
39. Osteopetrosis: further heterogeneity.
Horton WA; Schimke RN; Iyama T
J Pediatr; 1980 Oct; 97(4):580-5. PubMed ID: 7420221
[TBL] [Abstract][Full Text] [Related]
40. A novel CLCN7 mutation resulting in a most severe form of autosomal recessive osteopetrosis.
Besbas N; Draaken M; Ludwig M; Deren O; Orhan D; Bilginer Y; Ozaltin F
Eur J Pediatr; 2009 Dec; 168(12):1449-54. PubMed ID: 19238435
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
