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234 Possible Causes for nitschke

  • Generalized Arterial Calcification of Infancy

    Gabriele Weissen‐Plenz, Yvonne Nitschke and Frank Rutsch , Chapter 7 Mechanisms of Arterial Calcification , , 10.1016/S0065-2423(08)00407-1 , (263-293) , (2008) .[doi.org] Yvonne Nitschke, Geneviève Baujat, Ulrike Botschen, Tanja Wittkampf, Marcel du Moulin, Jacqueline Stella, Martine Le Merrer, Geneviève Guest, Karen Lambot, Marie-Frederique[doi.org] Frank Rutsch, Petra Böyer, Yvonne Nitschke, Nico Ruf, Bettina Lorenz-Depierieux, Tanja Wittkampf, Gabriele Weissen-Plenz, Rudolf-Josef Fischer, Zulf Mughal, John W.[doi.org]

  • Generalized Arterial Calcification of Infancy 2

    Nitschke Y et al. (2012) Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. [ ] 4.[moldiag.com] […] it has been suggested that GACI and PXE represent 2 ends of a clinical spectrum of ectopic calcification and other organ pathologies rather than 2 distinct disorders ({4:Nitschke[diseaseinfosearch.org] View Article PubMed Google Scholar Nitschke Y, Rutsch F: Genetics in arterial calcification: lessons learned from rare diseases.[bmcpediatr.biomedcentral.com]

  • Singleton Merten Syndrome

    I Buers Y Nitschke RC Hennekam M MacDougall C Lu O Mamaeva GI Rice H Erlandsen HG Kehl H Thiele P Nürnberg W Höhne YJ Crow A Feigenbaum F Rutsch Open Access Meeting abstract[link.springer.com] Rutsch F 1 , MacDougall M 2 , Lu C 3 , Buers I 4 , Mamaeva O 3 , Nitschke Y 4 , Rice GI 5 , Erlandsen H 3 , Kehl HG 6 , Thiele H 7 , Nürnberg P 8 , Höhne W 7 , Crow YJ 9 ,[ncbi.nlm.nih.gov] Rutsch, Frank ; MacDougall, Mary ; Lu, Changming ; Buers, Insa ; Mamaeva, Olga ; Nitschke, Yvonne ; Rice, Gillian I ; Erlandsen, Heidi ; Kehl, Hans Gerd ; Thiele, Holger ;[pesquisa.bvsalud.org]

  • Facial Dysmorphism-Immunodeficiency-Livedo-Short Stature Syndrome

    Pachlopnik Schmid, Jana ; Lemoine, Roxane ; Nehme, Nadine ; Cormier-Daire, Valéry ; Revy, Patrick ; Debeurme, Franck ; Debré, Marianne ; Nitschke, Patrick ; Bole-Feysot, Christine[zora.uzh.ch] AU - Pachlopnik Schmid,Jana, AU - Lemoine,Roxane, AU - Nehme,Nadine, AU - Cormier-Daire,Valéry, AU - Revy,Patrick, AU - Debeurme,Franck, AU - Debré,Marianne, AU - Nitschke[unboundmedicine.com] Product cited in: Pachlopnik Schmid, Lemoine, Nehme, Cormier-Daire, Revy, Debeurme, Debré, Nitschke, Bole-Feysot, Legeai-Mallet, Lim, de Villartay, Picard, Durandy, Fischer[antibodies-online.com]

  • Malignant Migrating Partial Seizures of Infancy

    Barcia G 1 , Fleming MR , Deligniere A , Gazula VR , Brown MR , Langouet M , Chen H , Kronengold J , Abhyankar A , Cilio R , Nitschke P , Kaminska A , Boddaert N , Casanova[ncbi.nlm.nih.gov] Nitschke 4 , A. Kaminska 1 , N. Boddaert 1 , J. L. Casanova 6 , I. Desguerre 1 , A. Munnich 4 , O. Dulac 1,2 , L. K. Kaczmarek 3 , L. Colleaux 4 , R.[ashg.org] […] seizures in infancy migrating partial seizures of infancy MMPSI Barcia G, Fleming MR, Deligniere A, Gazula VR, Brown MR, Langouet M, Chen H, Kronengold J, Abhyankar A, Cilio R, Nitschke[ghr.nlm.nih.gov]

  • Lafora Disease

    .; Nitschke, S.; Steup, M.; Minassian, B.A.; Nitschke, F. Pathogenesis of Lafora Disease: Transition of Soluble Glycogen to Insoluble Polyglucosan. Int. J. Mol.[doi.org] Nitschke F, Sullivan MA, Wang P, Zhao X, Chown EE, Perri AM, Israelian L, Juana-López L, Bovolenta P, Rodríguez de Córdoba S, Steup M, Minassian BA.[cib.csic.es]

  • Geleophysic Dysplasia 2

    Merrer M, Megarbane A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A, Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke[genome.jp] Mégarbane, A; Mortier, G; Odent, S; Polak, M; Rohrbach, M; Sillence, D; Stolte‐Dijkstra, I; Superti‐Furga, A; Rimoin, DL; Topouchian, V; Unger, S; Zabel, B; Bole‐Feysot, C; Nitschke[deepdyve.com] McInerney-Leo 1 , 2 , Carine Le Goff 3 , Paul J Leo 1 , 2 , Tony J Kenna 1 , 2 , Patricia Keith 1 , 2 , Jessica E Harris 1 , 2 , Ruth Steer 4 , Christine Bole-Feysot 5 , Patrick Nitschke[jmg.bmj.com]

  • Hoyeraal-Hreidarsson Syndrome

    References Le Guen T, Jullien L, Touzot F, Schertzer M, Gaillard L, Perderiset M, Carpentier W, Nitschke P, Picard C, Couillault G, Soulier J, Fischer A, Callebaut I, Jabado[disorders.eyes.arizona.edu] Le Guen T, Jullien L, Touzot F, Schertzer M, Gaillard L, Perderiset M, Carpentier W, Nitschke P, Picard C, Couillault G, Soulier J, Fischer A, Callebaut I, Jabado N, Londono-Vallejo[en.wikipedia.org] Deficiency Causes Hoyeraal-Hreidarsson Syndrome With Short Telomeres and Genome Instability Le Guen T, Jullien L, Touzot F, Schertzer M, Gaillard L, Perderiset M, Carpentier W, Nitschke[disorders.eyes.arizona.edu]

  • Geleophysic Dysplasia

    Mégarbane, A; Mortier, G; Odent, S; Polak, M; Rohrbach, M; Sillence, D; Stolte‐Dijkstra, I; Superti‐Furga, A; Rimoin, DL; Topouchian, V; Unger, S; Zabel, B; Bole‐Feysot, C; Nitschke[deepdyve.com] McInerney-Leo 1 , 2 , Carine Le Goff 3 , Paul J Leo 1 , 2 , Tony J Kenna 1 , 2 , Patricia Keith 1 , 2 , Jessica E Harris 1 , 2 , Ruth Steer 4 , Christine Bole-Feysot 5 , Patrick Nitschke[jmg.bmj.com] Merrer M, Megarbane A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte- Dijkstra I, Superti-Furga A, Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke[karger.com]

  • Metaphyseal Chondrodysplasia - Retinitis pigmentosa Syndrome

    Lopez-Martinez MA, Azevedo LF, Hubert L, Pontikos N, Eblimit A, Lorda-Sanchez I, Kheir V, Plagnol V, Oufadem M, Soens ZT, Yang L, Bole-Feysot C, Pfundt R, Allaman-Pillet N, Nitschke[disorders.eyes.arizona.edu]

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