Search Results

Surveillance in von Hippel-Lindau disease (vHL)

Authors: Poulsen, MLM; Budtz-Jørgensen, E; Bisgaard, ML

Source: Clinical Genetics, Volume 77, Number 1, January 2010 , pp. 49-59(11)

Publisher: Blackwell Publishing

Blocking Interleukin-1 in Rheumatic Diseases: Its Initial Disappointments and Recent Successes in the Treatment of Autoinflammatory Diseases

Author: Goldbach-Mansky, Raphaela

Source: Annals of the New York Academy of Sciences, Volume 1182, Number 1, December 2009 , pp. 111-123(13)

Publisher: Blackwell Publishing

Dermatoses affecting desmosomes in animals: a mechanistic review of acantholytic blistering skin diseases

Authors: Olivry, Thierry; Linder, Keith E.

Source: Veterinary Dermatology, Volume 20, Numbers 5-6, October/December 2009 , pp. 313-326(14)

Publisher: Blackwell Publishing

Molecular Diagnosis of PMP22 Gene Duplications and Deletions: Comparison of Different Methods

Authors: Stangler Herodež, .; Zagradišnik, B.; Erjavec Škerget, A.; Zagorac, A.; Kokalj Vokač, N.

Source: The Journal of International Medical Research, Volume 37, Number 5, September 2009 , pp. 1626-1631(6)

Publisher: Field House Publishing

Two Taiwanese siblings with dyschromatosis universalis hereditaria

Authors: Wu, C. Y.; Huang, W. H.

Source: Clinical & Experimental Dermatology, Volume 34, Number 8, December 2009 , pp. e666-e669(1)

Publisher: Blackwell Publishing

Identification of a U2HR gene mutation in Turkish families with Marie Unna hereditary hypotrichosis

Authors: Düzenli, S.; Redler, S.; Müller, M.; Polat, M.; Dogruer, D.; Pasternack, S. M.; Betz, R. C.

Source: Clinical & Experimental Dermatology, Volume 34, Number 8, December 2009 , pp. e953-e956(1)

Publisher: Blackwell Publishing

Thirty Years of Research into Rendu-Osler-Weber Disease in France: Historical Demography, Population Genetics and Molecular Biology

Authors: Brunet, Guy; Lesca, Gaëtan; Génin, Emmanuelle; Dupuis-Girod, Sophie; Bideau, Alain; Plauchu, Henri

Source: Population, Volume 64, Number 2, 2009 , pp. 273-291(19)

Publisher: INED - Institut national d'études démographiques

Hereditary haemochromatosis: a tale of eight siblings

Authors: Pande, Shrikant D; Ariyaratnam, Rajkumar; Burke, Michael J

Source: Clinical Medicine, Journal of the Royal College of Physicians, Volume 9, Number 6, December 2009 , pp. 624-626(3)

Publisher: Royal College of Physicians

Chronic kidney disease in children: The National Paediatric Hospital experience in Hanoi, Vietnam

Authors: HUONG, NGUYEN THI QUYNH; LONG, TRAN DINH; BOUISSOU, FRANÇOIS; LIEM, NGUYEN THANH; TRUONG, DINH MINH; NGA, DO KIM; CHIEN, TRAN THI; BASCANDS, JEAN-LOUP

Source: Nephrology, Volume 14, Number 8, December 2009 , pp. 722-727(6)

Publisher: Blackwell Publishing

Hereditary encephalomyelopathy and polyneuropathy in an Alaskan husky

Authors: Wakshlag, J. J.; deLahunta, A.

Source: The Journal of Small Animal Practice, Volume 50, Number 12, December 2009 , pp. 670-674(5)

Publisher: Blackwell Publishing

Whole-genome scan for guttural pouch tympany in Arabian and German warmblood horses

Authors: Zeitz, A.; Spötter, A.; Blazyczek, I.; Diesterbeck, U.; Ohnesorge, B.; Deegen, E.; Distl, O.

Source: Animal Genetics, Volume 40, Number 6, December 2009 , pp. 917-924(8)

Publisher: Blackwell Publishing

Neonatal thrombo-embolism: risk factors, clinical features and outcome

Authors: Demirel, N.; Aydin, M.; Zenciroglu, A.; Bas, A.Y.; Yarali, N.; Okumus, N.; Cinar, G.; Ipek, M.S.

Source: Annals of Tropical Paediatrics: International Child Health, Volume 29, Number 4, December 2009 , pp. 271-279(9)

Publisher: Maney Publishing

Phaeochromocytomas and sympathetic paragangliomas

Authors: Petri, B.-J.; van Eijck, C. H. J.; de Herder, W. W.; Wagner, A.; de Krijger, R. R.

Source: British Journal of Surgery, Volume 96, Number 12, December 2009 , pp. 1381-1392(12)

Publisher: John Wiley & Sons, Ltd.

EFNS guidelines on the molecular diagnosis of mitochondrial disorders

Authors: Finsterer, J.; Harbo, H. F.; Baets, J.; Van Broeckhoven, C.; Di Donato, S.; Fontaine, B.; De Jonghe, P.; Lossos, A.; Lynch, T.; Mariotti, C.; Schöls, L.; Spinazzola, A.; Szolnoki, Z.; Tabrizi, S. J.; Tallaksen, C. M. E.; Zeviani, M.; Burgunder, J.-M.; Gasser, T.

Source: European Journal of Neurology, Volume 16, Number 12, December 2009 , pp. 1255-1264(10)

Publisher: Blackwell Publishing

A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin-associated iron overload diseases

Authors: Létocart, Emilie; Le Gac, Gérald; Majore, Silvia; Ka, Chandran; Radio, Francesca C.; Gourlaouen, Isabelle; De Bernardo, Carmelilia; Férec, Claude; Grammatico, Paola

Source: British Journal of Haematology, Volume 147, Number 3, November 2009 , pp. 379-385(7)

Publisher: Blackwell Publishing

Cutaneous accumulation of abnormal polyglutamine proteins of patients with dentatorubral-pallidoluysian atrophy

Authors: Ohta, M.; Okuyama, R.; Ogawa, E.; Kisu, K.; Sato, H.; Aoki, M.; Aiba, S.

Source: European Journal of Neurology, Volume 16, Number 11, November 2009 , pp. 1246-1249(4)

Publisher: Blackwell Publishing

Hereditary angio-oedema in Denmark: a nationwide survey

Author: Bygum, A.

Source: British Journal of Dermatology, Volume 161, Number 5, November 2009 , pp. 1153-1158(6)

Publisher: Blackwell Publishing

Genetically determined neuropathy (CMT 1A) accompanied by immune dysfunction: a case report

Authors: Pál, Zsuzsanna; Kiss, E.; Gál, A.; Csépány, T.; Lengyel, A.; Molnar, Maria

Source: Inflammation Research, Volume 58, Number 7, July 2009 , pp. 359-361(3)

Publisher: Springer

Mutation in HSF4 is associated with hereditary cataract in the Australian Shepherd

Authors: Mellersh, Cathryn S.; McLaughlin, Bryan; Ahonen, Saija; Pettitt, Louise; Lohi, Hannes; Barnett, Keith C.

Source: Veterinary Ophthalmology, Volume 12, Number 6, November/December 2009 , pp. 372-378(7)

Publisher: Blackwell Publishing

Half a Century of l-DOPA

Authors: Mena, Maria A.; Casarejos, Maria J.o.s.e.; Solano, Rosa M.a.r.i.a.; de Yebenes, Justo G.a.r.c.i.a.

Source: Current Topics in Medicinal Chemistry, Volume 9, Number 10, July 2009 , pp. 880-893(14)

Publisher: Bentham Science Publishers