Search Results - "STEINDL, K"

Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons by Asadollahi, R, Delvendahl, I, Muff, R, Tan, G, Rodríguez, D G, Turan, S, Russo, M, Oneda, B, Joset, P, Boonsawat, P, Masood, R, Mocera, M, Ivanovski, I, Baumer, A, Bachmann-Gagescu, R, Schlapbach, R, Rehrauer, H, Steindl, K, Begemann, A, Reis, A, Winkler, J, Winner, B, Müller, M, Rauch, A

“…Abstract Pathogenic heterozygous variants in SCN2A, which encodes the neuronal sodium channel NaV1.2, cause different types of epilepsy or intellectual…”
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Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability by Rosin, Nadine, Elcioglu, Nursel H, Beleggia, Filippo, Isgüven, Pinar, Altmüller, Janine, Thiele, Holger, Steindl, Katharina, Joset, Pascal, Rauch, Anita, Nürnberg, Peter, Wollnik, Bernd, Yigit, Gökhan

“…DNA double-strand breaks (DSBs) are highly toxic lesions, which, if not properly repaired, can give rise to genomic instability. Non-homologous end-joining…”
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A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome by Steindl, K, Alazami, AM, Bhatia, KP, Wuerfel, JT, Petersen, D, Cartolari, R, Neri, G, Klein, C, Mongiardo, B, Alkuraya, FS, Schneider, SA

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C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients by Alazami, AM, Schneider, SA, Bonneau, D, Pasquier, L, Carecchio, M, Kojovic, M, Steindl, K, De Kerdanet, M, Nezarati, MM, Bhatia, KP, Degos, B, Goh, E, Alkuraya, FS

“…Alazami AM, Schneider SA, Bonneau D, Pasquier L, Carecchio M, Kojovic M, Steindl K, de Kerdanet M, Nezarati MM, Bhatia KP, Degos B, Goh E, Alkuraya FS. C2orf37…”
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Complement factor H gene polymorphisms and Chlamydia pneumoniae infection in age-related macular degeneration by Haas, P, Steindl, K, Schmid-Kubista, K E, Aggermann, T, Krugluger, W, Hageman, G S, Binder, S

“…Purpose To investigate the association of the complement factor H gene (CFH) Y402H polymorphism and age-related macular degeneration (AMD) in the Austrian…”
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PP03.15 – 2755: Clinical metabolomics reveals a novel plasma biomarker for Snyder Robinson syndrome (X-linked spermine synthase deficiency) by Abela, L, Simmons, L, Steindl, K, Schmitt, B, Mastrangelo, M, Joset, P, Papuc, M, Crowther, L.M, Mathis, D, Rauch, A, Plecko, B

“…Objective Clinical metabolomics has emerged as a powerful tool to study metabolic perturbations in various diseases and to unravel novel biomarkers. In a…”
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Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome by Schwartz, C E, Gillessen-Kaesbach, G, May, M, Cappa, M, Gorski, J, Steindl, K, Neri, G

“…The Aarskog syndrome or facio-genital dysplasia (FGDY, MIM No. 305400) is an X-linked condition characterized by short stature, macrocephaly, facial, genital…”
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Autosomal dominant simple microphthalmos by Vingolo, E M, Steindl, K, Forte, R, Zompatori, L, Iannaccone, A, Sciarra, A, Del Porto, G, Pannarale, M R

“…Congenital bilateral microphthalmos is a rare malformation of the eye, which ranges from extreme to mild reduction of total axial length. Microphthalmos may…”
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Retinal degeneration processes and transplantation of retinal pigment epithelial cells: past, present and future trends by Steindl, K., Binder, S.

“…Summary Retinal Degeneration Processes are often based on a dysfunctional Retinal Pigment Epithelium (RPE), leading to difficulties in visual perception and…”
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P14 – 1538 Severe neonatal epileptic encephalopathy with burst-suppression pattern with mutation in PIGA gene – a case report by Maier, O, Jaeger, G, Joset, P, Steindl, K, Pajarola, S, Rauch, A

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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females by Radio, FC, Pang, KF, Ciolfi, A, Levy, MA, Pedace, L, de Boer, E, Jackson, A, Stellacci, E, Lo Cicero, S, Dentici, ML, McWalter, K, Sanchez-Lara, PA, Lindstrom, K, Madan-Khetarpal, S, MacKenzie, JJ, Monteleone, B, Zhou, DH, Sawyer, SL, Monteiro, FP, Macke, EL, Iascone, M, Selicorni, A, Tenconi, R, Amor, DJ, Stals, K, Cabet, S, Steindl, K, Weiss, K, Castle, AMR, Kalsner, L, Chandler, KE, Sheehan, W, Shinde, DN, Goodloe, D, Bluske, K, Faletra, F, Kurtz-Nelson, EC, Anderlid, BM, Barakat, TS, Graham, JM, Faivre, L, Banka, S, Wang, TY, Priolo, M, Dallapiccola, B, Vissers, LELM, Sadikovic, B, Scott, DA, Holder, JL, Tartaglia, M

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The euchromatic 9p+ polymorphism is a locus-specific amplification caused by repeated copies of a small DNA segment mapping within 9p12 by LECCE, Rosetta, MURDOLO, Marina, GELLI, Gianfranco, STEINDL, Katharina, COPPOLA, Livia, ROMANO, Anna, CUPELLI, Elisa, NERI, Giovanni, ZOLLINO, Marcella

“…A large duplication involving the proximal euchromatic region of chromosome 9p was detected by conventional cytogenetics in a healthy 33-year-old woman and in…”
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Karyotype modifications in human malignant melanoma cell cultures after treatment with azelaic acid by Grammatico, P, Scarpa, S, Picardo, M, Steindl, K, Nazzaro-Porro, M, Del Porto, G

“…Azelaic acid (AzAc) is a C9 dicarboxylic acid which has recently been shown to have some therapeutic applications in skin diseases of different aetiologies. In…”
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Correlation between Goldmann perimetry and maximal electroretinogram response in retinitis pigmentosa by IANNACCONE, A, RISPOLI, E, VINGOLO, E. M, ONORI, P, STEINDL, K, RISPOLI, D, PANNARALE, M. R

“…To evaluate the relationship between Goldmann perimetry and maximal electroretinographic responses in patients with retinitis pigmentosa, analyses were…”
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Clinical heterogeneity of dominant optic atrophy : the contribution of visual function investigations to diagnosis by DEL PORTO, G, VINGOLO, E. M, STEINDL, K, FORTE, R, IANNACCONE, A, RISPOLI, E, PANNARALE, M. R

“…The variability of the visual function impairment in dominant optic atrophy (DOA) makes it difficult to diagnose the disease within genealogies. Physiologic…”
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New syndrome of mental retardation, Robin sequence, and brachydactyly by Gurrieri, Fiorella, Steindl, Katharina, Giglio, Sabrina, Neri, Giovanni

“…We report on two sibs, brother and sister, affected with a multiple congenital anomalies/mental retardation (MCA/MR) syndrome, characterized by mild to…”
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Nonsyndromal overgrowth in males with mild psychomotor delay by Neri, Giovanni, Steindl, Katharina, Mazzei, Attilio, Battaglia, Agatino, Cappa, Marco

“…Over the last 3 years we ascertained 42 patients for statural overgrowth and/or macrocephaly, who also had mild developmental delay. There were 39 males and…”
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Lentigo maligna. Cytogenetic, ultrastructural, and phenotypic characterization of a primary cell culture by Grammatico, P, Modesti, A, Steindl, K, Scarpa, S, Heouaine, A, Picardo, M, Del Porto, G

“…Lentigo maligna is an early cutaneous neoplastic lesion. This article presents the cytogenetic, ultrastructural, and phenotypic characterization of a primary…”
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