Fibrodysplasia Ossificans Progressiva: Clinical Course, Genetic Mutations and Genotype-Phenotype Correlation

ανά Hüning, Irina, Gillessen-Kaesbach, Gabriele
Έκδοση 2014

“Twitching” and Stiffness in POLG1 Mutation Carriers: Red Flag or Red Herring?

ανά Pauly, Martje G., Tunc, Sinem, Bäumer, Tobias, Gillessen‐Kaesbach, Gabriele, Münchau, Alexander
Τόπος έκδοσης Mov Disord Clin Pract (2019)

Reply to: Double Trouble from POLG1 and CLCN1 Variants with Intrafamilial Phenotypic Heterogeneity

ανά Pauly, Martje G., Tunc, Sinem, Bäumer, Tobias, Gillessen‐Kaesbach, Gabriele, Münchau, Alexander
Τόπος έκδοσης Mov Disord Clin Pract (2020)

Polar Body Biopsy in the Diagnosis of Monogenic Diseases: The Birth of Three Healthy Children

ανά Griesinger, Georg, Bündgen, Nana, Salmen, Diana, Schwinger, Eberhard, Gillessen-Kaesbach, Gabriele, Diedrich, Klaus
Έκδοση 2009

Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2

ανά Bernard, Veronica, Minnerop, Martina, Bürk, Katrin, Kreuz, Friedmar, Gillessen-Kaesbach, Gabriele, Zühlke, Christine
Έκδοση 2009

Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing

ανά Zühlke, Christine, Mikat, Barbara, Timmann, Dagmar, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Bürk, Katrin
Τόπος έκδοσης Cerebellum Ataxias (2015)

Epimutations in Prader-Willi and Angelman Syndromes: A Molecular Study of 136 Patients with an Imprinting Defect

ανά Buiting, Karin, Groß, Stephanie, Lich, Christina, Gillessen-Kaesbach, Gabriele, El-Maarri, Osman, Horsthemke, Bernhard
Έκδοση 2003

The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders

ανά Beygo, Jasmin, Mertel, Claudia, Kaya, Sabine, Gillessen-Kaesbach, Gabriele, Eggermann, Thomas, Horsthemke, Bernhard, Buiting, Karin
Τόπος έκδοσης Epigenetics (2018)

The Cohesin loading factor NIPBL recruits histone deacetylases to mediate local chromatin modifications

ανά Jahnke, Philipp, Xu, Weizhen, Wülling, Manuela, Albrecht, Melanie, Gabriel, Heinz, Gillessen-Kaesbach, Gabriele, Kaiser, Frank J.
Έκδοση 2008

Clinical utility gene card for: Prader-Willi Syndrome

ανά Buiting, Karin, Cassidy, Suzanne B, Driscoll, Daniel J, Gillessen-Kaesbach, Gabriele, Kanber, Deniz, Tauber, Maithé, Schwinger, Eberhard, Horsthemke, Bernhard
Έκδοση 2014

Clinical utility gene card for: Angelman Syndrome

ανά Buiting, Karin, Clayton-Smith, Jill, Driscoll, Daniel J, Gillessen-Kaesbach, Gabriele, Kanber, Deniz, Schwinger, Eberhard, Williams, Charles, Horsthemke, Bernhard
Τόπος έκδοσης Eur J Hum Genet (2015)

Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation

ανά Edener, Ulf, Wöllner, Janine, Hehr, Ute, Kohl, Zacharias, Schilling, Stefan, Kreuz, Friedmar, Bauer, Peter, Bernard, Veronica, Gillessen-Kaesbach, Gabriele, Zühlke, Christine
Έκδοση 2010

Microcephalic Osteodysplastic Primordial Dwarfism type I with biallelic mutations in the RNU4ATAC gene

ανά Nagy, Rebecca, Wang, Heng, Albrecht, Beate, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Haan, Eric, Meinecke, Peter, de la Chapelle, Albert, Westman, Judith A.
Έκδοση 2011

A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome

ανά Schwerd, Tobias, Khaled, Andrea V, Schürmann, Manfred, Chen, Hannah, Händel, Norman, Reis, André, Gillessen-Kaesbach, Gabriele, Uhlig, Holm H, Abou Jamra, Rami
Τόπος έκδοσης Eur J Hum Genet (2016)

Identification of the recently described plasminogen gene mutation p.Lys330Glu in a family from Northern Germany with hereditary angioedema

ανά Recke, Andreas, Massalme, Elisabeth G., Jappe, Uta, Steinmüller-Magin, Lars, Schmidt, Julia, Hellenbroich, Yorck, Hüning, Irina, Gillessen-Kaesbach, Gabriele, Zillikens, Detlef, Hartmann, Karin
Τόπος έκδοσης Clin Transl Allergy (2019)

Distinct Mutations in the Receptor Tyrosine Kinase Gene ROR2 Cause Brachydactyly Type B

ανά Schwabe, Georg C., Tinschert, Sigrid, Buschow, Christian, Meinecke, Peter, Wolff, Gerhard, Gillessen-Kaesbach, Gabriele, Oldridge, Michael, Wilkie, Andrew O. M., Kömec, Reyhan, Mundlos, Stefan
Έκδοση 2000

Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32

ανά Beygo, Jasmin, Elbracht, Miriam, de Groot, Karel, Begemann, Matthias, Kanber, Deniz, Platzer, Konrad, Gillessen-Kaesbach, Gabriele, Vierzig, Anne, Green, Andrew, Heller, Raoul, Buiting, Karin, Eggermann, Thomas
Τόπος έκδοσης Eur J Hum Genet (2015)

Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features

ανά Roessler, Erich, Du, Yang-Zhu, Mullor, Jose L., Casas, Esther, Allen, William P., Gillessen-Kaesbach, Gabriele, Roeder, Elizabeth R., Ming, Jeffrey E., Altaba, Ariel Ruiz i, Muenke, Maximilian
Έκδοση 2003

Frequency and characterization of DNA methylation defects in children born SGA

ανά Bens, Susanne, Haake, Andrea, Richter, Julia, Leohold, Judith, Kolarova, Julia, Vater, Inga, Riepe, Felix G, Buiting, Karin, Eggermann, Thomas, Gillessen-Kaesbach, Gabriele, Platzer, Konrad, Prawitt, Dirk, Caliebe, Almuth, Siebert, Reiner
Έκδοση 2013

Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap

ανά Harmsen, May-Britt, Azzarello-Burri, Silvia, García González, M Mar, Gillessen-Kaesbach, Gabriele, Meinecke, Peter, Müller, Dietmar, Rauch, Anita, Rossier, Eva, Seemanova, Eva, Spaich, Christiane, Steiner, Bernhard, Wieczorek, Dagmar, Zenker, Martin, Kutsche, Kerstin
Έκδοση 2009