The 20 references in paper Z. Stark, R. Savarirayan, З. Старк, Р. Саварирайан (2010) “ОСТЕОПЕТРОЗ // OSTEOPETROSIS” / spz:neicon:nefr:y:2010:i:2:p:20-34

1
A lb e rs-S ch on b e rg R ontgenbilder einer seltenen Knockenerkrankung. Munch Med Wochensch. 1904;5:365-368
(check this in PDF content)
2
Superti-Furga A US, and the Nosology Group o f the International Skeletal Dysplasia S ociety N osology and Classification of Genetic Skeletal Disorders: 2006 Revision. American Journal of Medical Genetics Part A. 2007;143A:1-18. doi: 10.1002/ajmg.a.31483
(check this in PDF content)
3
Loria-Cortes R, Quesada-Calvo E, Cordero-Chaverri C. O steopetrosis in children: a report of 26 cases. J Pediatr 1977;91:43-47
(check this in PDF content)
4
Bollerslev J, Andersen PE, Jr Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis. Bone 1988;9:7-13
(check this in PDF content)
5
Al-Tamimi YZ, Tyagi AK, Chumas PD, Crimmins DW. Patients with autosom al-recessive osteopetrosis presenting with hydrocephalus and hindbrain posterior fossa crowding. J Neurosurg Pediatrics. 2008;1:103-106
(check this in PDF content)
6
Dozier TS, Duncan IM, Klein AJ, Lambert PR, Key LL., Jr O tologic m anifestations of m alignant o steopetrosis. Otol Neurotol. 2005;26:762-766
(check this in PDF content)
7
Maranda B, Chabot G, Decarie JC, Pata M, Azeddine B, Moreau A, Vacher J. Clinical and cellular manifestations of O STM 1-related infantile osteopetrosis. J Bone Miner Res 2008;23:296-300
(check this in PDF content)
8
Steward CG. Neurological aspects o f osteopetrosis. Neuropathol Appl Neurobiol 2003;29:87-97
(check this in PDF content)
9
Alroy J, Pfannl R, Ucci A, Lefranc G, Frattini A, Megarbane A. Electron microscopic findings in skin biopsies from patients with infantile osteopetrosis and neuronal storage disease. Ultrastruct Pathol 2007;31:333-338
(check this in PDF content)
10
Jacquemin C, Mullaney P, Svedberg E. Marble brain syndrome: osteopetrosis, renal acidosis and calcification of the brain. Neuroradiology 1998;40:662-663
(check this in PDF content)
11
Whyte MP. Carbonic anhydrase II deficiency. Clin Orthop Relat Res. 1993:52-63
(check this in PDF content)
12
Guerrini MM, Sobacchi C, Cassani B, Abinun M, Kilic SS, Pangrazio A, Moratto D, Mazzolari E, Clayton-Smith J, Orchard P, et al. Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. Am J Hum Genet 2008;83:64-76
(check this in PDF content)
13
Kilic SS, Etzioni A. The Clinical Spectrum of Leukocyte Adhesion Deficiency (LAD) III due to Defective CalDAG-GEF1. J Clin Immunol 2008
(check this in PDF content)
14
Mory A, Feigelson SW, Yarali N, Kilic SS, Bayhan GI, Gershoni-Baruch R, Etzioni A, Alon R. Kindlin-3: a new gene involved in the pathogenesis of LAD-III. Blood 2008;112:2591
(check this in PDF content)
15
Benichou OD, Laredo JD, de Vernejoul MC. Type II autosom al d om inant o ste o p e tro sis (A lbers-S chonberg disease): clinical and radiological manifestations in 42 patients. Bone 2000;26:87-93
(check this in PDF content)
16
Maroteaux P, Lamy M. [Pyknodysostosis.]. Presse Med 1962;70:999-1002
(check this in PDF content)
17
Maroteaux P, Lamy M. The Malady of Toulouse-Lautrec. Jama 1965;191:715-717
(check this in PDF content)
18
Bartsocas CS. Pycnodysostosis: Toulouse-Lautrec’s and Aesop’s disease? Hormones (Athens) 2002;1:260-262
(check this in PDF content)
19
Edelson JG, Obad S, Geiger R, On A, A rtul HJ. Pycnodysostosis. Orthopedic aspects with a description of 14 new cases. Clin Orthop Relat Res 1992:263-276
(check this in PDF content)
20
Muto T, Michiya H, Taira H, Murase H, Kanazawa M. Pycnodysostosis. Report of a case and review of the Japanese
(check this in PDF content)