Publications by authors named "Solveig Schulz"

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Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3).
Seda Susgun, Afif Ben-Mahmoud, Franz Rüschendorf, Bonsu Ku, Syeda Iqra Hussain, Solveig Schulz

Hum Mutat· April 2025

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Mutational Spectrum of the Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.
Alrun Hotz, Julia Kopp, Emmanuelle Bourrat, Vinzenz Oji, Kira Süßmuth, Solveig Schulz

Genes (Basel)· March 2023

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Double-Hit Mutations in Bicuspid Aortic Valve and Blunt Traumatic Acute Aortic Dissection.
Kushtrim Disha, Solveig Schulz, Marco Mierzwa, Tamer Owais, Evaldas Girdauskas

Ann Thorac Surg· January 2021

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A family with limb girdle muscular dystrophy type 1B and multiple exostoses.
Bernd F M Romeike, Kerstin Becker, Julian Großkreutz, Solveig Schulz, Joachim Weis

Clin Neuropathol· February 2020

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Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings.
Magdalena Danyel, Zhuo Cheng, Christine Jung, Felix Boschann, Jean Tori Pantel, Solveig Schulz

Eur J Hum Genet· December 2019

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Defining and expanding the phenotype of -associated developmental epileptic encephalopathy.
Katrine M Johannesen, Diana Mitter, Robert Janowski, Christian Roth, Joseph Toulouse, Solveig Schulz

Neurol Genet· December 2019

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Novel Association of a Familial Mutation in Loeys-Dietz Syndrome with Concomitant Hematologic Malignancy.
Kushtrim Disha, Solveig Schulz, Martin Breuer, Tamer Owais, Evaldas Girdauskas

Korean J Thorac Cardiovasc Surg· October 2019

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Novel Mutation c.1162_1172del; p.Pro388* in Two Patients with Symptoms of Atypical Rett Syndrome.
Ulrike Bernstein, Stephanie Demuth, Oliver Puk, Birgit Eichhorn, Solveig Schulz

Mol Syndromol· July 2019

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Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblings.
Solveig Schulz, Martin A Mensah, Heike de Vries, Rosemarie Fröber, Bernd Romeike

Eur J Hum Genet· September 2018

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Buschke-Ollendorff syndrome due to a novel LEMD3 mutation - an unusual case of alopecia.
Susanne Darr-Foit, Sibylle Schliemann, Solveig Schulz, Peter Elsner

J Dtsch Dermatol Ges· March 2018

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Buschke-Ollendorff-Syndrom mit einer neuartigen LEMD3-Mutation - Der Fall einer ungewöhnlichen Alopezie.
Susanne Darr-Foit, Sibylle Schliemann, Solveig Schulz, Peter Elsner

J Dtsch Dermatol Ges· March 2018

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Genetic abnormalities in bicuspid aortic valve root phenotype: preliminary results.
Evaldas Girdauskas, Lisa Geist, Kushtrim Disha, Iliaz Kazakbaev, Tatiana Groß, Solveig Schulz

Eur J Cardiothorac Surg· July 2017

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Transforming Growth Factor Beta-2 Mutations in Barlow's Disease and Aortic Dilatation.
Kushtrim Disha, Solveig Schulz, Thomas Kuntze, Evaldas Girdauskas

Ann Thorac Surg· July 2017

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[Gastroparesis in Noonan syndrome].
Konstantin G Heimrich, Falk Gühne, Solveig Schulz, Stephanie Mutschke, Andreas Stallmach

Z Gastroenterol· February 2017

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Next-generation sequencing in X-linked intellectual disability.
Andreas Tzschach, Ute Grasshoff, Stefanie Beck-Woedl, Claudia Dufke, Claudia Bauer, Solveig Schulz

Eur J Hum Genet· November 2015

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Disturbed neuronal ER-Golgi sorting of unassembled glycine receptors suggests altered subcellular processing is a cause of human hyperekplexia.
Natascha Schaefer, Christoph J Kluck, Kerry L Price, Heike Meiselbach, Nadine Vornberger, Solveig Schulz

J Neurosci· January 2015

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Greig cephalopolysyndactyly (GCPS) contiguous gene syndrome in a boy with a 14 Mb deletion in region 7p13-14 caused by a paternal balanced insertion (5; 7).
Solveig Schulz, Marianne Volleth, Petra Muschke, Ilse Wieland, Peter Wieacker

Appl Clin Genet· June 2013

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Prenatal diagnosis of hypoplastic left heart syndrome associated with Noonan Syndrome and de novo RAF1 mutation.
Solveig Schulz, Rosemarie Fröber, Cornelia Kraus, Uwe Schneider

Prenat Diagn· October 2012

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Transforming growth factor-beta receptor type II mutation in a patient with bicuspid aortic valve disease and intraoperative aortic dissection.
Evaldas Girdauskas, Solveig Schulz, Michael A Borger, Marco Mierzwa, Thomas Kuntze

Ann Thorac Surg· May 2011

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Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family.
Solveig Schulz, Claudia Gerloff, Susanne Ledig, Dorothea Langer, Mariannne Volleth

Prenat Diagn· January 2008

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Immunohistochemical detection of bombesin receptor subtypes GRP-R and BRS-3 in human tumors using novel antipeptide antibodies.
Solveig Schulz, Christoph Röcken, Stefan Schulz

Virchows Arch· October 2006

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Immunocytochemical identification of low-affinity NTS2 neurotensin receptors in parietal cells of human gastric mucosa.
Stefan Schulz, Christoph Röcken, Matthias P A Ebert, Solveig Schulz

J Endocrinol· October 2006

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Immunolocalization of full-length NK1 tachykinin receptors in human tumors.
Stefan Schulz, Ralf Stumm, Christoph Röcken, Christian Mawrin, Solveig Schulz

J Histochem Cytochem· September 2006

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Immunocytochemical localisation of plasma membrane GHRH receptors in human tumours using a novel anti-peptide antibody.
Solveig Schulz, Christoph Röcken, Stefan Schulz

Eur J Cancer· September 2006

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Increased frequency of cystic fibrosis transmembrane conductance regulator gene mutations in infertile males.
Solveig Schulz, Sibylle Jakubiczka, Siegfried Kropf, Ingrid Nickel, Petra Muschke

Fertil Steril· January 2006

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