Genetic tests in sports medicine - many studies, little impact

Por Rudnik-Schöneborn, Sabine
Publicado no Genom Soc Policy (2012)

A further patient with Pai syndrome with autosomal dominant inheritance?

Por Rudnik-Schöneborn, S, Zerres, K
Publicado em 1994

Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk. German Working Group on Paediatric Nephrology (Arbeitsgemeinschaft für P...

Por Zerres, K, Rudnik-Schöneborn, S, Deget, F
Publicado em 1993

Evidence of autosomal dominant mutations in childhood-onset proximal spinal muscular atrophy.

Por Rudnik-Schöneborn, S., Wirth, B., Zerres, K.
Publicado em 1994

Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease?

Por Shababi, Monir, Lorson, Christian L, Rudnik-Schöneborn, Sabine S
Publicado em 2014

Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease.

Por Hahnen, E., Schönling, J., Rudnik-Schöneborn, S., Zerres, K., Wirth, B.
Publicado em 1996

Proximal and distal spinal muscular atrophy in one family: molecular genetic studies provide further evidence for the non-allelic origin of both diseases.

Por Spranger, S, Rudnik-Schöneborn, S, Spranger, M, Schächtele, M, Zerres, K, Wirth, B
Publicado em 1997

Allelic variants in the 5` non-coding region of the connexin32 gene: possible pitfalls in the diagnosis of X linked Charcot-Marie-Tooth neuropathy (CMTX)

Por Bergmann, C, Zerres, K, Rudnik-Schoneborn, S, Eggermann, T, Schroder, J, Senderek, J
Publicado em 2002

Two Adult Patients with Ellis-van Creveld Syndrome Extending the Clinical Spectrum

Por Rudnik-Schöneborn, S., Zerres, K., Graul-Neumann, L., Wiegand, S., Mellerowicz, H., Hehr, U.
Publicado em 2011

Apparent autosomal recessive inheritance in families with proximal spinal muscular atrophy affecting individuals in two generations.

Por Rudnik-Schöneborn, S., Zerres, K., Hahnen, E., Meng, G., Voit, T., Hanefeld, F., Wirth, B.
Publicado em 1996

Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implica...

Por Wirth, B, Herz, M, Wetter, A, Moskau, S, Hahnen, E, Rudnik-Schöneborn, S, Wienker, T, Zerres, K
Publicado em 1999

Clinical utility gene card for: proximal spinal muscular atrophy

Por Rudnik–Schöneborn, Sabine, Eggermann, Thomas, Kress, Wolfram, Lemmink, Henny H, Cobben, Jan-Maarten, Zerres, Klaus
Publicado em 2012

Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) – update 2015

Por Rudnik-Schöneborn, Sabine, Eggermann, Thomas, Kress, Wolfram, Lemmink, Henny H, Cobben, Jan-Maarten, Zerres, Klaus
Publicado no Eur J Hum Genet (2015)

De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling.

Por Wirth, B, Schmidt, T, Hahnen, E, Rudnik-Schöneborn, S, Krawczak, M, Müller-Myhsok, B, Schönling, J, Zerres, K
Publicado em 1997

Diaphragmatic Spinal Muscular Atrophy with Respiratory Distress Is Heterogeneous, and One Form Is Linked to Chromosome 11q13-q21

Por Grohmann, Katja, Wienker, Thomas F., Saar, Kathrin, Rudnik-Schöneborn, Sabine, Stoltenburg-Didinger, Gisela, Rossi, Rainer, Novelli, Giuseppe, Nürnberg, Gudrun, Pfeufer, Arne, Wirth, Brunhilde, Reis, André, Zerres, Klaus, Hübner, Christoph
Publicado em 1999

Life with too much polyprenol–polyprenol reductase deficiency

Por Gründahl, J.E.H., Guan, Z., Rust, S., Reunert, J., Müller, B., Du Chesne, I., Zerres, K., Rudnik-Schöneborn, S., Ortiz-Brüchle, N., Häusler, M.G., Siedlecka, J., Swiezewska, E., Raetz, C.R.H., Marquardt, T.
Publicado em 2011

Recurrent Miscarriage: Diagnostic and Therapeutic Procedures. Guideline of the DGGG, OEGGG and SGGG (S2k-Level, AWMF Registry Number 015/050)

Por Toth, Bettina, Würfel, Wolfgang, Bohlmann, Michael, Zschocke, Johannes, Rudnik-Schöneborn, Sabine, Nawroth, Frank, Schleußner, Ekkehard, Rogenhofer, Nina, Wischmann, Tewes, von Wolff, Michael, Hancke, Katharina, von Otte, Sören, Kuon, Ruben, Feil, Katharina, Tempfer, Clemens
Publicado no Geburtshilfe Frauenheilkd (2018)

PKHD1, the Polycystic Kidney and Hepatic Disease 1 Gene, Encodes a Novel Large Protein Containing Multiple Immunoglobulin-Like Plexin-Transcription–Factor Domains and Parallel Beta...

Por Onuchic, Luiz F., Furu, Laszlo, Nagasawa, Yasuyuki, Hou, Xiaoying, Eggermann, Thomas, Ren, Zhiyong, Bergmann, Carsten, Senderek, Jan, Esquivel, Ernie, Zeltner, Raoul, Rudnik-Schöneborn, Sabine, Mrug, Michael, Sweeney, William, Avner, Ellis D., Zerres, Klaus, Guay-Woodford, Lisa M., Somlo, Stefan, Germino, Gregory G.
Publicado em 2002

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

Por Synofzik, Matthis, Soehn, Anne S, Gburek-Augustat, Janina, Schicks, Julia, Karle, Kathrin N, Schüle, Rebecca, Haack, Tobias B, Schöning, Martin, Biskup, Saskia, Rudnik-Schöneborn, Sabine, Senderek, Jan, Hoffmann, Karl-Titus, MacLeod, Patrick, Schwarz, Johannes, Bender, Benjamin, Krüger, Stefan, Kreuz, Friedmar, Bauer, Peter, Schöls, Ludger
Publicado em 2013

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia

Por Wan, Jijun, Steffen, Janos, Yourshaw, Michael, Mamsa, Hafsa, Andersen, Erik, Rudnik-Schöneborn, Sabine, Pope, Kate, Howell, Katherine B., McLean, Catriona A., Kornberg, Andrew J., Joseph, Jörg, Lockhart, Paul J., Zerres, Klaus, Ryan, Monique M., Nelson, Stanley F., Koehler, Carla M., Jen, Joanna C.
Publicado no Brain (2016)