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Kerstin Kutsche

Research Profile

Disorders

Anatomy

Chromosomes, Human, X

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Irina Hüning; Kerstin Kutsche; Lovisa Lovmar; Saideh Rajaei; Julia Rundberg; Anna Erlandsson; Margarita Stefanova
Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome.
Tatjana Bierhals; Kerstin Kutsche; Satish Babu Maddukuri; Katta M Girisha
Expanding the phenotype associated with 17q12 duplication: case report and review of the literature.
Janine Bayer; Christian Büchel; Raffael Kalisch; Kerstin Kutsche; Gabriele M Rune; Ulrike Schwarze; Tobias Sommer
Estrogen and the male hippocampus: genetic variation in the aromatase gene predicting serum estrogen is associated with hippocampal gray matter volume in men.

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2013: Irina Hüning; Kerstin Kutsche; Lovisa Lovmar; Saideh Rajaei; Julia Rundberg; Anna Erlandsson; Margarita Stefanova
Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome.
European journal of medical genetics 2013;56(4):188-91.
2013: Tatjana Bierhals; Kerstin Kutsche; Satish Babu Maddukuri; Katta M Girisha
Expanding the phenotype associated with 17q12 duplication: case report and review of the literature.
American journal of medical genetics. Part A 2013;161A(2):352-9.
2013: Janine Bayer; Christian Büchel; Raffael Kalisch; Kerstin Kutsche; Gabriele M Rune; Ulrike Schwarze; Tobias Sommer
Estrogen and the male hippocampus: genetic variation in the aromatase gene predicting serum estrogen is associated with hippocampal gray matter volume in men.
Hippocampus 2013;23(2):117-21.
2012: Vanessa A van Rahden; Juliane Najm; Suzanne R Pfeffer; Kristina Brand; Thomas Braulke; Joerg Heeren; Kerstin Kutsche
The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module.
Human molecular genetics 2012;21(23):5019-38.
2012: Alessia Indrieri; Kerstin Kutsche; Isabelle Maystadt; Manuela Morleo; Roberta Tammaro; Valeria Tiranti; Vanessa Alexandra van Rahden; Massimo Zeviani; Alex Zvulunov; Ivan Conte; Ilaria D'Amato; Stephanie Demuth; Daniela Iaconis; Brunella Franco
Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease.
American journal of human genetics 2012;91(5):942-9.
2012: Ashwin Dalal; Debashish Danda; Sumita Danda; Sri Lakshmi Bhavani G; Abdul Mueed Bidchol; Tatjana Bierhals; Kalpana Gowrishankar; Kerstin Kutsche; Sheela Nampoothiri; Madhusudan R Nandineni; Shubha R Phadke; Anand Prahalad Rao; Hitesh Shah; Padma Priya Togarrati; Sandeep Vijayan; Katta M Girisha
Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia.
American journal of medical genetics. Part A 2012;158A(11):2820-8.
2012: Sybille Lorenz; Christine Petersen; Heide Seidel; Martin Zenker; Ulrike Kordaß; Kerstin Kutsche
Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.
European journal of medical genetics 2012;55(11):615-9.
2011: Fanny Kortüm; Soma Das; Max Flindt; Deborah J Morris-Rosendahl; Irina Stefanova; Amy Goldstein; Denise Horn; Eva Klopocki; Gerhard Kluger; Peter Martin; Anita Rauch; Agathe Roumer; Sulagna Saitta; Laurence E Walsh; Dagmar Wieczorek; Gökhan Uyanik; Kerstin Kutsche; William B Dobyns
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
Journal of medical genetics 2011;48(6):396-406.
2010: Katta M Girisha; Leslie E Lewis; Shubha R Phadke; Kerstin Kutsche
Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation.
American journal of medical genetics. Part A 2010;152A(11):2861-4.
2010: Sabine Endele; Georg Rosenberger; Kirsten Geider; Bernt Popp; Ceyhun Tamer; Irina Stefanova; Mathieu Milh; Fanny Kortüm; Angela Fritsch; Friederike K Pientka; Yorck Hellenbroich; Vera M Kalscheuer; Juergen Kohlhase; Ute Moog; Gudrun Rappold; Anita Rauch; Hans-Hilger Ropers; Sarah von Spiczak; Holger Tönnies; Nathalie Villeneuve; Laurent Villard; Bernhard Zabel; Martin Zenker; Bodo Laube; André Reis; Dagmar Wieczorek; Lionel Van Maldergem; Kerstin Kutsche
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
Nature genetics 2010;42(11):1021-6.
2010: Antonella Fabretto; Kerstin Kutsche; May-Britt Harmsen; Sergio Demarini; Paolo Gasparini; Maria Cristina Fertz; Martin Zenker
Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I.
European journal of medical genetics 2010;53(5):322-4.
2010: Judith E Allanson; Axel Bohring; Helmuth-Guenther Dörr; Andreas Dufke; Gabriele Gillessen-Kaesbach; Denise Horn; Rainer König; Christian P Kratz; Kerstin Kutsche; Silke Pauli; Salmo Raskin; Anita Rauch; Anne Turner; Dagmar Wieczorek; Martin Zenker
The face of Noonan syndrome: Does phenotype predict genotype.
American journal of medical genetics. Part A 2010;152A(8):1960-6.
2010: Elisabeth Steichen-Gersdorf; Elke Griesmaier; Friederike K Pientka; Dieter Kotzot; Kerstin Kutsche
A severe form of the X-linked microphthalmia with linear skin defects syndrome in a female newborn.
Clinical dysmorphology 2010;19(2):82-4.
2010: Lothar Gremer; Alessandro De Luca; Torsten Merbitz-Zahradnik; Bruno Dallapiccola; Susanne Morlot; Marco Tartaglia; Kerstin Kutsche; Mohammad Reza Ahmadian; Georg Rosenberger
Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.
Human molecular genetics 2010;19(5):790-802.
2010: Benjamin Abo-Dalo; Kerstin Kutsche; Victor Mautner; Lan Kluwe
Large intragenic deletions of the NF2 gene: breakpoints and associated phenotypes.
Genes, chromosomes & cancer 2010;49(2):171-5.
2009: May-Britt Harmsen; Silvia Azzarello-Burri; M Mar García González; Gabriele Gillessen-Kaesbach; Peter Meinecke; Dietmar Müller; Anita Rauch; Eva Rossier; Eva Seemanova; Christiane Spaich; Bernhard Steiner; Dagmar Wieczorek; Martin Zenker; Kerstin Kutsche
Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.
European journal of human genetics : EJHG 2009;17(10):1207-15.
2009: Georg Rosenberger; Stefanie Meien; Kerstin Kutsche
Oncogenic HRAS mutations cause prolonged PI3K signaling in response to epidermal growth factor in fibroblasts of patients with Costello syndrome.
Human mutation 2009;30(3):352-62.
2008: Juliane Najm; Denise Horn; Isabella Wimplinger; Jeffrey A Golden; Victor V Chizhikov; Jyotsna Sudi; Susan L Christian; Reinhard Ullmann; Alma Kuechler; Carola A Haas; Armin Flubacher; Lawrence R Charnas; Gökhan Uyanik; Ulrich Frank; Eva Klopocki; William B Dobyns; Kerstin Kutsche
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
Nature genetics 2008;40(9):1065-7.
2008: Benjamin Abo-Dalo; Melanie Roes; Sonia Canún; Martin Delatycki; Gabriele Gillessen-Kaesbach; Ihor Hrytsiuk; Christine Jung; Bronwyn Kerr; David Mowat; Eva Seemanova; Carlos E Steiner; Helen Stewart; Patrick Thierry; Griet Van Buggenhout; Sue White; Martin Zenker; Kerstin Kutsche
No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome.
Clinical dysmorphology 2008;17(3):181-5.
2008: Karine Missy; Bin Hu; Kerstin Schilling; Anke Harenberg; Vadim Sakk; Kerstin Kuchenbecker; Kerstin Kutsche; Klaus-Dieter Fischer
AlphaPIX Rho GTPase guanine nucleotide exchange factor regulates lymphocyte functions and antigen receptor signaling.
Molecular and cellular biology 2008;28(11):3776-89.
2008: Hyung-Goo Kim; Shotaro Kishikawa; Anne W Higgins; Ihn Sik Seong; Diana J Donovan; Yiping Shen; Eric Lally; Lauren A Weiss; Juliane Najm; Kerstin Kutsche; Maria Descartes; Lynn Holt; Stephen Braddock; Robin Troxell; Lee Kaplan; Fred Volkmar; Ami Klin; Katherine Tsatsanis; David J Harris; Ilse Noens; David L Pauls; Mark J Daly; Marcy E MacDonald; Cynthia C Morton; Bradley J Quade; James Gusella
Disruption of neurexin 1 associated with autism spectrum disorder.
American journal of human genetics 2008;82(1):199-207.
2008: A L Schulz; Beate Albrecht; C Arici; Ineke van der Burgt; Annegret Buske; Gabriele Gillessen-Kaesbach; R Heller; Denise Horn; C A Hübner; Georg Christoph Korenke; Rainer König; Wolfram Kress; G Krüger; Peter Meinecke; J Mücke; Barbara Plecko; E Rossier; Albert Schinzel; A Schulze; Eva Seemanova; Heide Seidel; Stephanie Spranger; B Tuysuz; S Uhrig; Dagmar Wieczorek; Kerstin Kutsche; M Zenker
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
Clinical genetics 2008;73(1):62-70.
2007: Benjamin Abo-Dalo; Hyung-Goo Kim; Melanie Roes; Margarita Stefanova; Anne Higgins; Yiping Shen; Stefan Mundlos; Bradley J Quade; James Gusella; Kerstin Kutsche
Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome.
American journal of medical genetics. Part A 2007;143A(22):2668-74.
2007: Isabella Wimplinger; Anita Rauch; Ulrike Orth; Ulrich Schwarzer; Udo Trautmann; Kerstin Kutsche
Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome.
European journal of medical genetics 2007;50(6):421-31.
2007: Martin Zenker; Denise Horn; Dagmar Wieczorek; Judith E Allanson; Silke Pauli; Ineke van der Burgt; Helmuth-Guenther Doerr; Harald Gaspar; Michael Hofbeck; Gabriele Gillessen-Kaesbach; Andreas Koch; Peter Meinecke; Stefan Mundlos; Anja Nowka; Anita Rauch; Silke Reif; Christian von Schnakenburg; Heide Seidel; Lars-Erik Wehner; Christiane Zweier; Susanne Bauhuber; Verena Matejas; Christian P Kratz; Christoph Thomas; Kerstin Kutsche
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.
Journal of medical genetics 2007;44(10):651-6.
2007: Martin Zenker; Katarina Lehmann; Anna Leana Schulz; Helmut Barth; Dagmar Hansmann; Rainer Koenig; Rudolf Korinthenberg; Martina Kreiss-Nachtsheim; Peter Meinecke; Susanne Morlot; Stefan Mundlos; Anne S Quante; Salmo Raskin; Dirk Schnabel; Lars-Erik Wehner; Christian P Kratz; Denise Horn; Kerstin Kutsche
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
Journal of medical genetics 2007;44(2):131-5.
2007: Hyung-Goo Kim; Anne W Higgins; Steven R Herrick; Shotaro Kishikawa; Linda Nicholson; Kerstin Kutsche; Azra H Ligon; David J Harris; Marcy E MacDonald; Gail A P Bruns; Cynthia C Morton; Bradley J Quade; James Gusella
Candidate loci for Zimmermann-Laband syndrome at 3p14.3.
American journal of medical genetics. Part A 2007;143(2):107-11.
2007: Isabella Wimplinger; Gary M Shaw; Kerstin Kutsche
HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations?
Molecular vision 2007;13():1475-82.
2007: Isabel Martínez-Garay; Miguel Tomás; Silvestre Oltra; Juliane Ramser; Maria Dolores Moltó; Félix Prieto; Alfons Meindl; Kerstin Kutsche; Francisco Martínez
A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
European journal of human genetics : EJHG 2007;15(1):29-34.
2006: Isabella Wimplinger; Manuela Morleo; Georg Rosenberger; Daniela Iaconis; Ulrike Orth; Peter Meinecke; Israela Lerer; Andrea Ballabio; Andreas Gal; Brunella Franco; Kerstin Kutsche
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.
American journal of human genetics 2006;79(5):878-89.
2006: Alexandra Gringel; Daniel Walz; Georg Rosenberger; Audrey Minden; Kerstin Kutsche; Petra Kopp; Stefan Linder
PAK4 and alphaPIX determine podosome size and number in macrophages through localized actin regulation.
Journal of cellular physiology 2006;209(2):568-79.
2006: Georg Rosenberger; Kerstin Kutsche
AlphaPIX and betaPIX and their role in focal adhesion formation.
European journal of cell biology 2006;85(3-4):265-74.
2006: Isabel Martinez-Garay; Amin Rustom; Hans-Hermann Gerdes; Kerstin Kutsche
The novel centrosomal associated protein CEP55 is present in the spindle midzone and the midbody.
Genomics 2006;87(2):243-53.
2005: Margarita Stefanova; Katrin Zemke; Boyan Dimitrov; Cristina Has; Johannes S Kern; Leena Bruckner-Tuderman; Kerstin Kutsche
Disruption of ERBB2IP is not associated with dystrophic epidermolysis bullosa in both father and son carrying a balanced 5;13 translocation.
The Journal of investigative dermatology 2005;125(4):700-4.
2005: Denise Horn; Magdalena Chyrek; Saskia Kleier; Sabine Lüttgen; Hanno Bolz; Georg Klaus Hinkel; Georg Christoph Korenke; Angelika Riess; Can Schell-Apacik; Sigrid Tinschert; Dagmar Wieczorek; Gabriele Gillessen-Kaesbach; Kerstin Kutsche
Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.
European journal of human genetics : EJHG 2005;13(5):563-9.
2005: Georg Rosenberger; Andreas Gal; Kerstin Kutsche
AlphaPIX associates with calpain 4, the small subunit of calpain, and has a dual role in integrin-mediated cell spreading.
The Journal of biological chemistry 2005;280(8):6879-89.
2004: Elke Hammer; Kerstin Kutsche; Friedrich Haag; Kurt Ullrich; Ralf Sudbrak; Rolf Peter Willig; Thomas Braulke; Bernd Kubler
Mono-allelic expression of the IGF-I receptor does not affect IGF responses in human fibroblasts.
European journal of endocrinology / European Federation of Endocrine Societies 2004;151(4):521-9.
2004: Theologia Sarafidou; Christina Kahl; Isabel Martinez-Garay; Marie Mangelsdorf; Stefan Gesk; Elizabeth Baker; Maria Kokkinaki; Polly Talley; Edna L Maltby; Lisa French; Lana Harder; Bernd Hinzmann; Carlo Nobile; Kathy Richkind; Merran Finnis; Panos Deloukas; Grant R Sutherland; Kerstin Kutsche; Nicholas K Moschonas; Reiner Siebert; Jozef Gécz
Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein.
Genomics 2004;84(1):69-81.
2004: Markéta Sutajová; Ursula Neukirchen; Peter Meinecke; Andrew E Czeizel; László Tímár; Enikö Sólyom; Andreas Gal; Kerstin Kutsche
Disruption of the PDGFB gene in a 1;22 translocation patient does not cause Costello syndrome.
Genomics 2004;83(5):883-92.
2003: Birte Tröger; Kerstin Kutsche; Hanno Bolz; Sabine Lüttgen; Andreas Gal; Zsuzsanna Almassy; Almuth Caliebe; Peter Freisinger; Elke Hobbiebrunken; Michel Morlot; Margarita Stefanova; Berthold Streubel; Dagmar Wieczorek; Peter Meinecke
No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome.
American journal of medical genetics. Part A 2003;121A(1):82-4.
2003: Margarita Stefanova; Dimitar Atanassov; Tzaniu Krastev; Sigrid Fuchs; Kerstin Kutsche
Zimmermann-Laband syndrome associated with a balanced reciprocal translocation t(3;8)(p21.2;q24.3) in mother and daughter: molecular cytogenetic characterization of the breakpoint regions.
American journal of medical genetics. Part A 2003;117A(3):289-94.
2003: Georg Rosenberger; Inka Jantke; Andreas Gal; Kerstin Kutsche
Interaction of alphaPIX (ARHGEF6) with beta-parvin (PARVB) suggests an involvement of alphaPIX in integrin-mediated signaling.
Human molecular genetics 2003;12(2):155-67.
2002: Isabel Martinez-Garay; Sibylle Jablonka; Marketa Sutajova; Peter Steuernagel; Andreas Gal; Kerstin Kutsche
A new gene family (FAM9) of low-copy repeats in Xp22.3 expressed exclusively in testis: implications for recombinations in this region.
Genomics 2002;80(3):259-67.
2002: Zoltán Maróti; Kerstin Kutsche; Marketa Sutajova; Andreas Gal; Hans Gerd Nothwang; Andrew E Czeizel; László Tímár; Enikö Sólyom
Refinement and delineation of the breakpoint regions of a chromosome 1;22 translocation in a patient with Costello syndrome.
American journal of medical genetics 2002;109(3):234-7.
2002: Kerstin Kutsche; Bernadette Ressler; Heide-Gertrude Katzera; Ulrike Orth; Gabriele Gillessen-Kaesbach; Susanne Morlot; Eberhard Schwinger; Andreas Gal
Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genes.
Human mutation 2002;19(5):526-35.
2002: Kerstin Kutsche; W Werner; Oliver Bartsch; Axel von der Wense; Peter Meinecke; Andreas Gal
Microphthalmia with linear skin defects syndrome (MLS): a male with a mosaic paracentric inversion of Xp.
Cytogenetic and genome research 2002;99(1-4):297-302.
2001: Kerstin Kutsche; Andreas Gal
The mouse Arhgef6 gene: cDNA sequence, expression analysis, and chromosome assignment.
Cytogenetics and cell genetics 2001;95(3-4):196-201.
2001: Hanno Bolz; Benigna von Brederlow; A Ramírez; E C Bryda; Kerstin Kutsche; Hans Gerd Nothwang; M Seeliger; M del C-Salcedó Cabrera; M C Vila; O P Molina; Andreas Gal; Christian Kubisch
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.
Nature genetics 2001;27(1):108-12.
2000: Kerstin Kutsche; Helger G Yntema; A Brandt; I Jantke; Hans Gerd Nothwang; Ulrike Orth; M G Boavida; D David; J Chelly; J P Fryns; Claude Moraine; H H Ropers; Ben C J Hamel; H van Bokhoven; Andreas Gal
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation.
Nature genetics 2000;26(2):247-50.
2000: Kerstin Kutsche; E Glauner; S Knauf; A Pomarino; M Schmidt; B Schröder; Hans Gerd Nothwang; H Schüler; Timm Goecke; AJ Kersten; Christoph Althaus; Andreas Gal
Cloning and characterization of the breakpoint regions of a chromosome 11;18 translocation in a patient with hamartoma of the retinal pigment epithelium.
Cytogenetics and cell genetics 2000;91(1-4):141-7.