Search Results

Display Settings
Results per page: 10
Sort By: Relevance
Filter
  • 1-10 of  83 results for ""Bone Diseases, Developmental""

Your Filters

Subject : hypertelorism
Reset filters
Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request
Academic Journal

Differences in intracellular localisation of ANKH mutants that relate to mechanisms of calcium pyrophosphate deposition disease and craniometaphyseal dysplasia.

  • Authors : Vijen S; Department of Biology and Medical Sciences, Oxford Brookes University, Gipsy Lane, Oxford, OX3 0BP, UK.; Hawes C

Subjects: Mutation*; Bone Diseases, Developmental/Bone Diseases, Developmental/Bone Diseases, Developmental/*genetics ; Chondrocalcinosis/Chondrocalcinosis/Chondrocalcinosis/*genetics Schwartz-Lelek syndrome

  • Source: Scientific reports [Sci Rep] 2020 May 04; Vol. 10 (1), pp. 7408. Date of Electronic Publication: 2020 May 04.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
Academic Journal

Biopsy-proven multiple sclerosis in an adult patient with atypical craniometaphyseal dysplasia.

  • Authors : DiFrancesco JC; Department of Neurology and Laboratory of Neurobiology, SanGerardo Hospital, University of Milano-Bicocca, Monza, Italy.; Isimbaldi G

Subjects: Bone Diseases, Developmental/Bone Diseases, Developmental/Bone Diseases, Developmental/*diagnosis ; Craniofacial Abnormalities/Craniofacial Abnormalities/Craniofacial Abnormalities/*diagnosis ; Hyperostosis/Hyperostosis/Hyperostosis/*diagnosis Schwartz-Lelek syndrome

  • Source: BMJ case reports [BMJ Case Rep] 2018 Feb 14; Vol. 2018. Date of Electronic Publication: 2018 Feb 14.Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101526291 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-790X

Record details

Read More Add to Saved list
×
Academic Journal

Rapid degradation of progressive ankylosis protein (ANKH) in craniometaphyseal dysplasia.

  • Authors : Kanaujiya J; Department of Oral Health and Diagnostic Sciences, School of Dental Medicine, University of Connecticut Health, Farmington, CT, 06030, United States.; Bastow E

Subjects: Bone Diseases, Developmental/Bone Diseases, Developmental/Bone Diseases, Developmental/*etiology ; Craniofacial Abnormalities/Craniofacial Abnormalities/Craniofacial Abnormalities/*etiology ; Hyperostosis/Hyperostosis/Hyperostosis/*etiology Schwartz-Lelek syndrome

  • Source: Scientific reports [Sci Rep] 2018 Oct 24; Vol. 8 (1), pp. 15710. Date of Electronic Publication: 2018 Oct 24.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
Academic Journal

Dietary phosphate supplement does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia.

  • Authors : Liu Y; Department of Oral Health and Diagnostic Sciences, School of Dental Medicine, University of Connecticut Health, Farmington, CT, 06030, USA.; Dutra EH

Subjects: Diet* ; Dietary Supplements*; Bone Diseases, Developmental/Bone Diseases, Developmental/Bone Diseases, Developmental/*drug therapy Schwartz-Lelek syndrome

  • Source: Journal of negative results in biomedicine [J Negat Results Biomed] 2016 Oct 26; Vol. 15 (1), pp. 18. Date of Electronic Publication: 2016 Oct 26.Publisher: BioMed Central Country of Publication: England NLM ID: 101152210 Publication Model: Electronic Cited Medium: Internet ISSN: 1477-5751

Record details

Read More Add to Saved list
×
Academic Journal

Craniometaphyseal dysplasia with obvious biochemical abnormality and rickets-like features.

  • Authors : Wu B; Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Shuaifuyuan No. 1, Dongcheng District, Beijing 100730, China.; Jiang Y

Subjects: Bone Diseases, Developmental/Bone Diseases, Developmental/Bone Diseases, Developmental/*complications ; Bone Diseases, Developmental/Bone Diseases, Developmental/Bone Diseases, Developmental/*metabolism ; Craniofacial Abnormalities/Craniofacial Abnormalities/Craniofacial Abnormalities/*complications Schwartz-Lelek syndrome

  • Source: Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2016 May 01; Vol. 456, pp. 122-127. Date of Electronic Publication: 2016 Jan 25.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 1302422 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
Academic Journal

Turbinoplasty surgery for nasal obstruction in craniometaphyseal dysplasia: A case report and review of the literature.

  • Authors : Twigg V; Department of Otorhinolaryngology, Sheffield Children's Hospital, Western Bank, Sheffield S10 2TH, United Kingdom. Electronic address: .; Carr S

Subjects: Bone Diseases, Developmental/Bone Diseases, Developmental/Bone Diseases, Developmental/*surgery ; Craniofacial Abnormalities/Craniofacial Abnormalities/Craniofacial Abnormalities/*surgery ; Hyperostosis/Hyperostosis/Hyperostosis/*surgery Schwartz-Lelek syndrome

  • Source: International journal of pediatric otorhinolaryngology [Int J Pediatr Otorhinolaryngol] 2015 Jun; Vol. 79 (6), pp. 935-937. Date of Electronic Publication: 2015 Apr 07.Publisher: Elsevier Scientific Publishers Country of Publication: Ireland NLM ID: 8003603 Publication Model: Print-Electronic Cited Medium: Internet

Record details

Read More Add to Saved list
×
Academic Journal

Dental Anomalies Associated with Craniometaphyseal Dysplasia.

  • Authors : Chen IP; Department of Oral Health and Diagnostic Sciences, School of Dental Medicine, University of Connecticut Health Center, Farmington, CT, USA.; Tadinada A

Subjects: Bone Diseases, Developmental/Bone Diseases, Developmental/Bone Diseases, Developmental/*genetics ; Craniofacial Abnormalities/Craniofacial Abnormalities/Craniofacial Abnormalities/*genetics ; Hyperostosis/Hyperostosis/Hyperostosis/*genetics Schwartz-Lelek syndrome

  • Source: Journal of dental research [J Dent Res] 2014 Jun; Vol. 93 (6), pp. 553-8. Date of Electronic Publication: 2014 Mar 24.Publisher: Sage Country of Publication: United States NLM ID: 0354343 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1544-0591

Record details

Read More Add to Saved list
×
Academic Journal

Craniometaphyseal Dysplasia Mutations in ANKH Negatively Affect Human Induced Pluripotent Stem Cell Differentiation into Osteoclasts.

  • Authors : Chen IP; Department of Oral Health and Diagnostic Sciences, School of Dental Medicine, University of Connecticut Health, 263 Farmington Avenue, Farmington, CT 06030, USA. Electronic address: .; Luxmi R

Subjects: Cell Differentiation*; Bone Diseases, Developmental/Bone Diseases, Developmental/Bone Diseases, Developmental/*genetics ; Craniofacial Abnormalities/Craniofacial Abnormalities/Craniofacial Abnormalities/*genetics Schwartz-Lelek syndrome

  • Source: Stem cell reports [Stem Cell Reports] 2017 Nov 14; Vol. 9 (5), pp. 1369-1376. Date of Electronic Publication: 2017 Oct 19.Publisher: Cell Press Country of Publication: United States NLM ID: 101611300 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
Academic Journal

Chiari type I malformation caused by craniometaphyseal dysplasia.

  • Authors : Tanaka M; Department of Orthopaedic Surgery, Okayama University Hospital, Okayama 700-8558, .; Arataki S

Subjects: Arnold-Chiari Malformation/Arnold-Chiari Malformation/Arnold-Chiari Malformation/*etiology ; Bone Diseases, Developmental/Bone Diseases, Developmental/Bone Diseases, Developmental/*complications ; Craniofacial Abnormalities/Craniofacial Abnormalities/Craniofacial Abnormalities/*complications Schwartz-Lelek syndrome

  • Source: Acta medica Okayama [Acta Med Okayama] 2013; Vol. 67 (6), pp. 385-9.Publisher: Okayama University Medical School Country of Publication: Japan NLM ID: 0417611 Publication Model: Print Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
Academic Journal

Maternal mosaicism of an ANKH mutation in a family with craniometaphyseal dysplasia.

  • Authors : Kato T; Department of Pediatrics, National Defense Medical College, Tokorozawa, Japan.; Matsumoto H

Subjects: Mosaicism* ; Mutation*; Bone Diseases, Developmental/Bone Diseases, Developmental/Bone Diseases, Developmental/*genetics Schwartz-Lelek syndrome

  • Source: Pediatrics international : official journal of the Japan Pediatric Society [Pediatr Int] 2013 Apr; Vol. 55 (2), pp. 254-6.Publisher: Blackwell Science Asia Country of Publication: Australia NLM ID: 100886002 Publication Model: Print Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
  • 1-10 of  83 results for ""Bone Diseases, Developmental""