Publications by authors named "Walter Just"

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Knocking out C9ORF72 Exacerbates Axonal Trafficking Defects Associated with Hexanucleotide Repeat Expansion and Reduces Levels of Heat Shock Proteins.
Masin Abo-Rady, Norman Kalmbach, Arun Pal, Carina Schludi, Antje Janosch, Walter Just

Stem Cell Reports· March 2020

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Breast cancer risk in BRCA1/2 mutation carriers and noncarriers under prospective intensified surveillance.
Christoph Engel, Christine Fischer, Silke Zachariae, Karolin Bucksch, Kerstin Rhiem, Walter Just

Int J Cancer· February 2020

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BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.
Nana Weber-Lassalle, Jan Hauke, Juliane Ramser, Lisa Richters, Eva Groß, Walter Just

Breast Cancer Res· January 2018

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Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients.
Gamze Guven, Ebba Lohmann, Jose Bras, J Raphael Gibbs, Hakan Gurvit, Walter Just

PLoS One· August 2017

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Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.
Yosr Hamdi, Penny Soucy, Karoline B Kuchenbaeker, Tomi Pastinen, Arnaud Droit, Walter Just

Breast Cancer Res Treat· January 2017

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Genomes of Ellobius species provide insight into the evolutionary dynamics of mammalian sex chromosomes.
Eskeatnaf Mulugeta, Evelyne Wassenaar, Esther Sleddens-Linkels, Wilfred F J van IJcken, Edith Heard, Walter Just

Genome Res· September 2016

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Uniparental Disomy in Somatic Mosaicism 45,X/46,XY/46,XX Associated with Ambiguous Genitalia.
Alexandre Serra, Friederike Denzer, Olaf Hiort, Thomas F Barth, Doris Henne-Bruns, Walter Just

Sex Dev· July 2016

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De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients.
Annemarie Hübers, Walter Just, Angela Rosenbohm, Kathrin Müller, Nicolai Marroquin

Neurobiol Aging· November 2015

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Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.
Gwang-Jin Kim, Elisabeth Sock, Astrid Buchberger, Walter Just, Friederike Denzer

J Med Genet· April 2015

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Early diagnosis of branchio-oculo-facial syndrome in a patient with inner ear malformation and mild ocular involvement.
Licia Lugli, Walter Just, Elisabetta Genovese, Silvia Palma, Fabrizio Ferrari

Clin Dysmorphol· January 2015

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C9ORF72-ALS: P62- and ubiquitin-aggregation pathology in skeletal muscle.
Matthias Türk, Gerrit Haaker, Lilli Winter, Walter Just, Florian T Nickel

Muscle Nerve· September 2014

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A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.
Chizuru Akimoto, Alexander E Volk, Marka van Blitterswijk, Marleen Van den Broeck, Claire S Leblond, Walter Just

J Med Genet· June 2014

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Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases.
Annemarie Hübers, Nicolai Marroquin, Birgit Schmoll, Stefan Vielhaber, Marlies Just, Walter Just

Neurobiol Aging· May 2014

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A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.
Christiane Zweier, Cornelia Kraus, Louise Brueton, Trevor Cole, Franziska Degenhardt, Walter Just

J Med Genet· December 2013

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Branchi-oculo-facial syndrome: a case report to highlight recent genetic considerations.
Olivier Abbo, Eric Bieth, Quentin Ballouhey, Frederic Vaysse, Walter Just

J Plast Reconstr Aesthet Surg· November 2012

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Craniofacial phenotype in the branchio-oculo-facial syndrome: four case reports.
Eva Galliani, Lydie Burglen, Natacha Kadlub, Walter Just, Yves Sznajer

Cleft Palate Craniofac J· May 2012

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Sox9 gene regulation and the loss of the XY/XX sex-determining mechanism in the mole vole Ellobius lutescens.
Stefan Bagheri-Fam, Rajini Sreenivasan, Pascal Bernard, Kevin C Knower, Ryohei Sekido, Walter Just

Chromosome Res· January 2012

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Genetic polymorphisms in the formaldehyde dehydrogenase gene and their biological significance.
Walter Just, Jasmin Zeller, Clarissa Riegert, Günter Speit

Toxicol Lett· November 2011

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Additional clinical and molecular analyses of TFAP2A in patients with the Branchio-Oculo-Facial syndrome: Previously reported patient.
Judith Reiber, Yves Sznajer, Elena Guillén Posteguillo, Dietmar Müller, Stanislas Lyonnet, Walter Just

Am J Med Genet A· August 2010

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Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome.
Judith Reiber, Yves Sznajer, Elena Guillén Posteguillo, Dietmar Müller, Stanislas Lyonnet, Walter Just

Am J Med Genet A· April 2010

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Chromosomal evolution of Arvicolinae (Cricetidae, Rodentia). II. The genome homology of two mole voles (genus Ellobius), the field vole and golden hamster revealed by comparative chromosome painting.
Svetlana A Romanenko, Natalia A Sitnikova, Natalya A Serdukova, Polina L Perelman, Nadezhda V Rubtsova, Walter Just

Chromosome Res· January 2008

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Exclusion of genes from the EYA-DACH-SIX-PAX pathway as candidates for Branchio-Oculo-Facial syndrome (BOFS).
René Kaiser, Elena Guillén Posteguillo, Dietmar Müller, Walter Just

Am J Med Genet A· September 2007

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Human male sex determination and sexual differentiation: pathways, molecular interactions and genetic disorders.
Laimutis Kucinskas, Walter Just

Medicina (Kaunas)· February 2006

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Higher aneuploidy rates of chromosomes 13, 16, and 21 in a patient with globozoospermia.
Nicole Ditzel, Imam El-Danasouri, Walter Just, Karl Sterzik

Fertil Steril· July 2005

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Characterization of Pisrt1/Foxl2 in Ellobius lutescens and exclusion as sex-determining genes.
Annette Baumstark, Horst Hameister, Mikhayil Hakhverdyan, Irina Bakloushinskaya, Walter Just

Mamm Genome· April 2005

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