Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis. Two allelic ectodermal dysplasias related to mutations of dominant gene coding for keratin 14
Dereure, O.
Annales de Dermatologie et de Venereologie 134(6-7): 595
2007
ISSN/ISBN: 0151-9638 PMID: 17657198 Document Number: 612723
Document emailed within 1 workday
Related Documents
Maso, M.J.; Schwartz, R.A.; Lambert, W.C. 1990: Dermatopathia pigmentosa reticularis Archives of Dermatology 126(7): 935-939Levi, L.; Galbiati, G.; Ghislanzoni, G. 1971: Reticular pigmentary dermatitis of Franceschetti-Jadassohn syndrome. Case report Giornale Italiano di Dermatolotia. Minerva Dermatologica 46(7): 319-322
Liu, L.; Chen, H.; Liu, M.; Jin, L.; Wei, Y.; Wu, X.; Liu, Y.; Xhu, R.; Chai, J. 2002: Two novel mutations of the retinitis pigmentosa GTPase regulator gene in two Chinese families with X-linked retinitis pigmentosa Chinese Medical Journal 115(6): 833-836
Reig, C.; Antich, J.; Gean, E.; Dante Heredia, C.; Valverde, D.; Baiget, M.; Carballo, M. 1996: Identification of Arg-135-Leu mutation in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa Medicina Clinica 106(6): 219-221
Hernando, I.; Benavides, A.; Plasencia, A.; Visus, E.P.; Bousoño, C.; Fernández Toral, J. 1988: Basan's syndrome: dominant autosomal hypohidrotic ectodermal dysplasia Anales Espanoles de Pediatria 28(4): 359-360
Bocian, M.; Rimoin, D.L. 1979: A new autosomal dominant syndrome of hypohidrotic ectodermal dysplasia and unusual facies Birth Defects Original Article Series 15(5b): 239-251
Jessop, A.P.; Glansdorff, N. 1980: Genetic factors affecting recovery of nonpoint mutations in the region of a gene coding for ornithine transcarbamylase: involvement of both the F factor in its chromosomal state and the recA gene Genetics 96(4): 779-799
Nomoto, S.; Haruki, N.; Kondo, M.; Konishi, H.; Takahashi, T.; Takahashi, T.; Takahashi, T. 1998: Search for mutations and examination of allelic expression imbalance of the p73 gene at 1p36.33 in human lung cancers Cancer Research 58(7): 1380-1383
Pfeiffer, R.A.; Verbeck, C. 1973: Ectrodactyly, ectodermal dysplasia, and cleft lip and palate: an hereditary syndrome with an autosomal dominant mode of inheritance Zeitschrift für Kinderheilkunde 115(3): 235-244
Akhmetgaleyeva, A.F.; Khidiyatova, I.M.; Saifullina, E.V.; Idrisova, R.F.; Magzhanov, R.V.; Khusnutdinova, E.K. 2016: Two novel mutations in gene SPG4 in patients with autosomal dominant spastic paraplegia Genetika 52(6): 691-696
Oshima, M.; Oshima, H.; Kobayashi, M.; Tsutsumi, M.; Taketo, M.M. 1995: Evidence against dominant negative mechanisms of intestinal polyp formation by Apc gene mutations Cancer Research 55(13): 2719-2722
Greenberg, J.; Franz, T.; Goliath, R.; Ramesar, R. 1999: A photoreceptor gene mutation in an indigenous black African family with retinitis pigmentosa identified using a rapid screening approach for common rhodopsin mutations South African Medical Journal 89(8): 877-878
Kowalska, A. 2003: Amyloid precursor protein gene mutations responsible for early-onset autosomal dominant Alzheimer's disease Folia Neuropathologica 41(1): 35-40
Miller, D.M.; Niemeyer, C.J.; Chitkara, P. 1993: Dominant unc-37 mutations suppress the movement defect of a homeodomain mutation in unc-4, a neural specificity gene in Caenorhabditis elegans Genetics 135(3): 741-753
Derwahl, M. 1999: Mutations in the thyrotropin receptor gene in the pathogenesis of toxic thyroid adenomas, toxic goiter nodules and autosomal dominant hyperthyroidism Zeitschrift für Arztliche Fortbildung und Qualitatssicherung 93(Suppl 1): 25-28
Cornelissen, E.A.M.; Bindels, R.J.M.; Hoefsloot, L.H.; Knoers, N.V.A.M. 2005: From gene to disease; mutations in the SLC12A3 gene as the cause of Gitelman's syndrome Nederlands Tijdschrift Voor Geneeskunde 149(24): 1330-1333
Borrello, M.G.; Pierotti, M.A.; Tamborini, E.; Biassoni, D.; Rizzetti, M.G.; Pilotti, S.; Della Porta, G. 1992: DNA methylation of coding and non-coding regions of the human H-RAS gene in normal and tumor tissues Oncogene 7(2): 269-275
Rosen, M.R. 1995: Long QT syndrome patients with gene mutations Circulation 92(12): 3373-3375
Maeda, N.; Funahashi, T. 2006: Gene mutations of adipocytokine associated with metabolic syndrome Nihon Rinsho. Japanese Journal of Clinical Medicine 64(Suppl 9): 330-333
Ombredanne, M. 1970: Aplasia of the ear in Franceschetti's syndrome Annales d'Oto-Laryngologie et de Chirurgie Cervico Faciale: Bulletin de la Societe d'Oto-Laryngologie des Hopitaux de Paris 87(6): 309-320