ORTAK KAYNAKLAR

 

Maksillofasiyal Sendromların ve Patolojilerin  büyük bölümüne özgü bulguları içeren kaynaklar listesi

Yazılı kaynaklar

  • Meskin LH, Gorlin RJ, Isaacson RJ. Abnormal morphology of the soft palate. II. The genetics of cleft uvula. Cleft Palate Journal, 2: 40-45, 1965

  • Schulze C. Developmental abnormalities of the teeth and jaws. In: Gorlin, R. J.; Goldman, H. M. (eds.): Thoma's Oral Pathology. 6th ed., pp. 96-183,  C. V. Mosby, St. Louis, 1970

  • Stewart RE, Prescott GH. Heritable disorders affecting cementum and the periodontal structure. CV Mosby, St. Louis, 1976

  • Stricker M, Van der Meulen JC, Raphael B, Mazzola R. Craniofacial Malformations. Churchill Livingstone, Edinburgh, 1990

  • Preis S, Raymaekers-Buntinx I, Majewski F. Acrofacial dysostosis of unknown type: nosology of the acrofacial dysostoses. American Journal of Medical Genetics, 56(2):155-160, 1995

  • Cohen MM Jr, Sven Kreiborg S. Perspectives on craniofacial syndromes, Acta Odontologica Scandinavica, 56(6):315-320, 1998

  • Alter BP, Young NS. The bone marrow failure syndromes. In: Nathan DG, Orkin HS, eds. Hematology of Infancy and Childhood. Vol 1. pp 237-335, Saunders, Philadelphia, 1998

  • Cohen MM Jr, MacLean RE. Craniosynostosis: Diagosis, Evaluation, and Management. Oxford University Press, NY, 2000

  • Wilson G, Cooley WC. Preventive Management of Children with Congenital Anomalies and Syndromes. Cambridge University Press, Cambridge, 2000

  • Gould SJ, Raymond GV, Valle D. The peroxisome biogenesis disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 8 ed., pp. 3181-3218, McGraw-Hill, New York, 2001

  • Gorlin RJ, Cohen MM Jr, Hennekam RC. Syndromes of the Head and Neck. 4th ed., Oxford University Press, New York, 2001

  • Scriver CR, Beaudet AL, Sly WS, Valle D. The Metabolic and Molecular Bases of Inherited Disease. 8 ed., McGraw-Hill, New York, 2001

  • Cohen MM Jr. Malformations of the Craniofacial Region: Evolutionary, Embryonic, Genetic, and Clinical Perspectives. American Journal of Medical Genetics (Seminars in Medical Genetics), 115:245–268, 2002

  • Vogelstein B, Kingler RW (eds). The Genetic Basis of Human Cancer. 2 ed., McGraw-Hill, New York, 2002

  • Mooney MP, Siegel MI. Understanding Craniofacial Anomalies: The Etiopathogenesis of Craniosynostoses and Facial Clefting. Wiley-Liss, New York, 2002

  • Heliövaara A, Ranta R, Rautio J. Dental abnormalities in permanent dentition in children with submucous cleft palate, Acta Odontologica Scandinavica, 62(3):129-131, 2004

  • Non-s HV, Reardon W, Gorlin RJ. Hereditary Hearing Loss and its Syndromes. Oxford University Press, Oxford, 2004

  • DeLellis RA, Lloyd RV, Heitz PU, Eng C. Pathology and Genetics: Tumours of the Endocrine Organs. WHO Classification of Tumours Series. Vol 8, IARC Press, Lyon, 2004

  • Lapunzina P. Risk of tumorigenesis in overgrowth syndromes: A comprehensive review. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 137C:53–71, 2005

  • Cohen MM Jr. Vascular update: Morphogenesis, tumors, malformations, and molecular dimensions. American Journal of Medical Genetics, 140A:2013–2038, 2006

  • Cohen MM Jr. The new bone biology: Pathologic, molecular, and clinical correlates. American Journal of Medical Genetics, 140A:2646–2706, 2006

  • Everman DB. Hands and feet. In: Stevenson RE, Hall JG, eds. Human Malformations and Related Anomalies. 2 ed. pp. 935-996, Oxford University Press, New York, 2006

  • Coletta RD, Graner E. Hereditary gingival fibromatosis: a systematic review. Journal of Periodontology, 77(5):753-764, 2006

  • Allgayer H, Rehder H, Fulda S. Hereditary Tumors: From Genes to Clinical Consequences, Wiley-VCH Verlag GmbH & Co. KGaA, Weinheim, Germany, 2008

  • Judith E. Allanson JE, Cunniff C, Hoyme HE, et al. Elements of Morphology: Standard Terminology for the Head and Face. American Journal of Medical Genetics, 149A(1): 6–28, 2009

  • Passos-Bueno MR, Ornelas CC, Fanganiello RD. Syndromes of the first and second pharyngeal arches: A review. American Journal of Medical Genetics, 149A:1853–1859, 2009

  • Priolo M. Ectodermal dysplasias: An overview and update of clinical and molecular-functional mechanisms. American Journal of Medical Genetics, 149A:2003–2013, 2009

  • Visinoni AF, Lisboa-Costa T, Pagnan NAB, Chautard-Freire-Maia EA. Ectodermal dysplasias: Clinical and molecular review. American Journal of Medical Genetics, 149A:1980–2002, 2009

  • Allanson JE, Cunniff C, Hoyme HE, et al. Elements of morphology: standard terminology for the head and face. American Journal of Medical Genetics A, 149A:6–28, 2009

  • Hall BD, Graham JM Jr, Cassidy SB, Opitz JM. Elements of morphology: standard terminology for the periorbital region. American Journal of Medical Genetics A, 149A:29–39, 2009

  • Crino PB, Mehta R, Vintners HV. Pathogenesis of TSC in the brain. In: Kwiatkowski DJ, Whittemore VH, Thiele EA, eds. Tuberous Sclerosis Complex: Genes, Clinical Features, and Therapeutics. pp.161-185, Wiley-Blackwell, Weinheim, 2010

  • Sybert VP. Genetic Skin Disorders. 2nd ed., Oxford University Press, New York, 2010

  • Hennekam LR, Krantz ID, Allansonb IJ. Gorlin's Syndromes of the Head and Neck. Oxford University Press, Oxford, 2010

  • Cassidy S, Allanson J. Management of Genetic Syndromes. 3 ed., Wiley-Liss, Hoboken-New Jersey, 2010

  • Wang X-P, Fan J. Molecular genetics of supernumerary tooth formation. Genesis, 49:261–277, 2011

  • Haritha A, Jayakumar A. Syndromes as they relate to periodontal disease. Periodontology 2000, 56:65–86, 2011

  • Poulopoulos A, Kittas D, Sarigelou A. Current concepts on gingival fibromatosis-related syndromes. Journal of Investigative and Clinical Dentistry, 2:156–161, 2011

  • Bermejo-Sanchez E, Cuevas L, Amar E, et al. Amelia: a multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 157C: 288-304, 2011

  • Dixon MJ, Marazita ML, Beaty TH, Murray JC. Cleft lip and palate: Understanding genetic and environmental influences. Nature Reviews Genetics, 12:167-178, 2011

  • Irvine AD, Hoeger PH, Yan AC. Harper's Textbook of Pediatric Dermatology, 3rd Edition , Wiley-Blackwell, Oxford, 2011

  • Pekka N, Morgan V, Fenwick A, Parmanen S et al. Inactivation of IL11 Signaling Causes Craniosynostosis, Delayed Tooth Eruption, and Supernumerary Teeth. American Journal of Human Genetics, 89: 67-81, 2011

  • Perdu B, Mortier G, Vanhoenacker F, Van Hul W. Sclerosing Bone Dysplasias. 2nd edition, Elsevier, Amsterdam-New York, 2012

  • Luijsterburg AJM.  Hands and Heads: Recording and classification of congenital anomalies of the upper limb and common oral clefts. Thesis. Department of Plastic, Reconstructive and Hand Surgery, Erasmus University, Rotterdam, 2013

  • Trainor PA, Andrews BT. Facial dysostoses: Etiology, pathogenesis and management. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 163C(4):283-294, 2013

  • Şıklar Z,  Berberoğlu M. Syndromic Disorders with short stature. Journal of Clinical Research in Pediatric Endocrinology, 6(1), 1–8, 2014

  • Coffin CM, Davis JL, Borinstein SC. Syndrome-associated soft tissue tumours. Histopathology, 64:68–87, 2014

  • Koutlas IG. Syndromes affecting skin and mucosa. Atlas of the Oral & Maxillofacial Surgery Clinics of North America, 22(2):135-151, 2014

  • DeLuke DM, Haug RH. Syndromes of the Head and Neck. Elsevier, Philadelphia, 2014

  • Braddock SR, Lipinski RJ, Williams MS, Carey JC. 35th Annual David W Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2014 Annual Meeting. American Journal of Medical Genetics, 167A:1685–1740, 2015

  • Edmondson AC, Kalish JM. Overgrowth Syndromes. Journal of Pediatric Genetics, 4:136–143, 2015

  • Stevenson RE, Hall JG.(eds). Human Malformations and Related Anomalies. 3rd edition. Oxford University Press, Oxford-New York, 2015

  • Deciphering Developmental Disorders Study. Large-scale discovery of novel genetic causes of developmental disorders. Nature, 519: 223-228, 2015

  • Kumar V, Abbas AK, Aster JC. Robbins and Cotran Pathologic Basis of Disease. 9th edt., Elsevier Saunders, Philadelphia, 2015

  • Ahmed MK, Ye X, Taub PJ. Review of the genetic basis of jaw malformations. Journal of Pediatric Genetics, 5(4):209-219, 2016

  • Lubinsky M, Kantaputra PN. Syndromes with supernumerary teeth. American Journal of Medical Genetics A, 170:2611–2616, 2016

  • Wang JC, Nagy L, Demke JC. Syndromic Craniosynostosis. Facial Plastic Surgery Clinics of North America, 24(4):531-543, 2016

  • Kaur Y, de Souza RJ, Gibson WT, Meyre D, A systematic review of genetic syndromes with obesity, Obesity Reviews, 18(6): 603-634, 2017

  • Pagon RA, Adam MP, Ardinger HH, et al.eds. “GeneReviews® (internet), Seattle (WA): University of Washington, Seattle, 1993-2017

PATOLOJİ

  • Tahsinoğlu M, Çöloğlu AS, Erseven G. Dhekimleri için Genel Patoloji, Altın Matbaacılık, İstanbul, 1981

  • Kumar V, Abbas AK, Aster JC. Robbins and Cotran Pathologic Basis of Disease. 9th edt., Elsevier Saunders, Philadelphia, 2015

  • Coleman WB, Tsongalis GJ. Diagnostic Molecular Pathology, A Guide to Applied Molecular Testing. Elsevier Academic Press, Amsterdam, 2017

  • Goldblum JR, McKenney JK, Lamps LW, Myers JL. Rosai and Ackerman's Surgical Pathology. 11th edt., Elsevier, Philadelphia, 2018

  • Goljan EF. Rapid Review Pathology. 5th edt., Elsevier, Philadelphia, 2019

On-line kaynaklar

 

  • Online Mendelian Inheritance in Man: An Online Catalog of Human Genes and Genetic Disorders  https://omim.org/