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Author/Creator Gillessen-Kaesbach, Gabriele

1. A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype. Issue 12 (3rd October 2013)

Authors:
Zweier, Christiane; Kraus, Cornelia; Brueton, Louise; Cole, Trevor; Degenhardt, Franziska; Engels, Hartmut; Gillessen-Kaesbach, Gabriele; Graul-Neumann, Luitgard; Horn, Denise; Hoyer, Juliane; Just, Walter; Rauch, Anita; Reis, André; Wollnik, Bernd; Zeschnigk, Michael; Lüdecke, Hermann-Josef; Wie...
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 12(2013)
Page Start:
838
Record Type:
Journal Article
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2. Assisted reproductive technologies do not enhance the variability of DNA methylation imprints in human. Issue 6 (30th November 2009)

Authors:
Tierling, Sascha; Souren, Nicole Y; Gries, Jasmin; LoPorto, Christina; Groth, Marco; Lutsik, Pavlo; Neitzel, Heidemarie; Utz-Billing, Isabelle; Gillessen-Kaesbach, Gabriele; Kentenich, Heribert; Griesinger, Georg; Sperling, Karl; Schwinger, Eberhard; Walter, Jörn
Journal:
Journal of medical genetics
Issue:
Volume 47:Issue 6(2010)
Page Start:
371
Record Type:
Journal Article
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3. HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome. Issue 12 (30th September 2015)

Authors:
Hollstein, Ronja; Parry, David A; Nalbach, Lisa; Logan, Clare V; Strom, Tim M; Hartill, Verity L; Carr, Ian M; Korenke, Georg C; Uppal, Sandeep; Ahmed, Mushtaq; Wieland, Thomas; Markham, Alexander F; Bennett, Christopher P; Gillessen-Kaesbach, Gabriele; Sheridan, Eamonn G; Kaiser, Frank J; Bonthr...
Journal:
Journal of medical genetics
Issue:
Volume 52:Issue 12(2015)
Page Start:
797
Record Type:
Journal Article
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4. Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome. (26th January 2016)

Authors:
Teresa-Rodrigo, María E.; Eckhold, Juliane; Puisac, Beatriz; Pozojevic, Jelena; Parenti, Ilaria; Baquero-Montoya, Carolina; Gil-Rodríguez, María C.; Braunholz, Diana; Dalski, Andreas; Hernández-Marcos, María; Ayerza, Ariadna; Bernal, María L.; Ramos, Feliciano J.; Wieczorek, Dagmar; Gillessen-Kae...
Other Names:
Prigent Claude Academic Editor.
Journal:
BioMed research international
Issue:
Volume 2016(2016)
Page Start:
Record Type:
Journal Article
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5. Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans. (13th January 2017)

Authors:
Lohmann, Katja; Masuho, Ikuo; Patil, Dipak N.; Baumann, Hauke; Hebert, Eva; Steinrücke, Sofia; Trujillano, Daniel; Skamangas, Nickolas K.; Dobricic, Valerija; Hüning, Irina; Gillessen-Kaesbach, Gabriele; Westenberger, Ana; Savic-Pavicevic, Dusanka; Münchau, Alexander; Oprea, Gabriela; Klein, Chri...
Journal:
Human molecular genetics
Issue:
Volume 26:Number 6(2017:Mar. 15)
Page Start:
1078
Record Type:
Journal Article
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6. Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances. (June 2016)

Authors:
Bens, Susanne; Kolarova, Julia; Beygo, Jasmin; Buiting, Karin; Caliebe, Almuth; Eggermann, Thomas; Gillessen-Kaesbach, Gabriele; Prawitt, Dirk; Thiele-Schmitz, Susanne; Begemann, Matthias; Enklaar, Thorsten; Gutwein, Jana; Haake, Andrea; Paul, Ulrike; Richter, Julia; Soellner, Lukas; Vater, Inga;...
Journal:
Epigenomics
Issue:
Volume 8:Number 6(2016)
Page Start:
801
Record Type:
Journal Article
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7. SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. Issue 10 (23rd June 2007)

Authors:
Zenker, Martin; Horn, Denise; Wieczorek, Dagmar; Allanson, Judith; Pauli, Silke; van der Burgt, Ineke; Doerr, Helmuth-Guenther; Gaspar, Harald; Hofbeck, Michael; Gillessen-Kaesbach, Gabriele; Koch, Andreas; Meinecke, Peter; Mundlos, Stefan; Nowka, Anja; Rauch, Anita; Reif, Silke; von Schnakenburg...
Journal:
Journal of medical genetics
Issue:
Volume 44:Issue 10(2007)
Page Start:
651
Record Type:
Journal Article
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8. Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome. Issue 12 (15th October 2018)

Authors:
Paolacci, Stefano; Li, Yun; Agolini, Emanuele; Bellacchio, Emanuele; Arboleda-Bustos, Carlos E; Carrero, Dido; Bertola, Debora; Al-Gazali, Lihadh; Alders, Mariel; Altmüller, Janine; Arboleda, Gonzalo; Beleggia, Filippo; Bruselles, Alessandro; Ciolfi, Andrea; Gillessen-Kaesbach, Gabriele; Krieg, T...
Journal:
Journal of medical genetics
Issue:
Volume 55:Issue 12(2018)
Page Start:
837
Record Type:
Journal Article
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