Items where Author is "Hehr, U."

Article

Herbst, S. M. and Schirmer, S. and Posovszky, C. and Jochum, F. and Roedl, T. and Schroeder, J. A. and Barth, T. F. and Hehr, U. and Melter, M. and Vermehren, J. (2015) Taking the next step forward - Diagnosing inherited infantile cholestatic disorders with next generation sequencing. MOLECULAR AND CELLULAR PROBES, 29 (5). pp. 291-298. ISSN 0890-8508

Evers, C. and Jungwirth, M. S. and Morgenthaler, J. and Hinderhofer, K. and Maas, B. and Janssen, J. W. G. and Jauch, A. and Hehr, U. and Steinbeisser, H. and Moog, U. (2014) Craniofrontonasal syndrome in a male due to chromosomal mosaicism involving EFNB1: further insights into a genetic paradox. CLINICAL GENETICS, 85 (4). pp. 347-352. ISSN 0009-9163, 1399-0004

Czeschik, J. C. and Voigt, C. and Alanay, Y. and Albrecht, B. and Avci, S. and FitzPatrick, D. and Goudie, D. R. and Hehr, U. and Hoogeboom, A. J. and Kayserili, H. and Simsek-Kiper, P. O. and Klein-Hitpass, L. and Kuechler, A. and Lopez-Gonzalez, V. and Martin, M. and Rahmann, S. and Schweiger, B. and Splitt, M. and Wollnik, B. and Luedecke, H-J and Zeschnigk, M. and Wieczorek, D. (2013) Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome. HUMAN GENETICS, 132 (8). pp. 885-898. ISSN 0340-6717

Hehr, U. and Schuierer, G. (2011) Genetic Assessment of Cortical Malformations. NEUROPEDIATRICS, 42 (2). pp. 43-50. ISSN 0174-304X

Hehr, A. and Paulmann, B. and Seifert, B. and Hehr, U. (2011) Preimplantation genetic diagnosis for monogenic inherited disorders. MEDIZINISCHE GENETIK, 23 (4). pp. 469-478. ISSN 1863-5490

Lommel, M. and Cirak, S. and Willer, T. and Hermann, R. and Uyanik, G. and van Bokhoven, H. and Koerner, C. and Voit, T. and Baric, I. and Hehr, U. and Strahl, S. (2010) Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies. NEUROLOGY, 74 (2). pp. 157-164. ISSN 0028-3878, 1526-632X

Rudnik-Schoeneborn, S. and Hehr, U. and von Kalle, T. and Bornemann, A. and Winkler, J. and Zerres, K. (2009) Andermann Syndrome can be a Phenocopy of Hereditary Motor and Sensory Neuropathy - Report of a Discordant Sibship with a Compound Heterozygous Mutation of the KCC3 Gene. NEUROPEDIATRICS, 40 (3). pp. 129-133. ISSN 0174-304X

Bals-Pratsch, M. and Hehr, A. and Seifert, B. and Hehr, U. (2009) Birth Following Vitrification of Oocytes and Polar Body Diagnosis for Cystic Fibrosis. GEBURTSHILFE UND FRAUENHEILKUNDE, 69 (6). pp. 541-544. ISSN 0016-5751, 1438-8804

Lacbawan, F. and Solomon, B. D. and Roessler, E. and El-Jaick, K. and Domene, S. and Velez, J. I. and Zhou, N. and Hadley, D. and Balog, J. Z. and Long, R. and Fryer, A. and Smith, W. and Omar, S. and McLean, S. D. and Clarkson, K. and Lichty, A. and Clegg, N. J. and Delgado, M. R. and Levey, E. and Stashinko, E. and Potocki, L. and VanAllen, M. I. and Clayton-Smith, J. and Donnai, D. and Bianchi, D. W. and Juliusson, P. B. and Njolstad, P. R. and Brunner, H. G. and Carey, J. C. and Hehr, U. and Muesebeck, J. and Wieacker, P. F. and Postra, A. and Hennekam, R. C. M. and van den Boogaard, M-J H. and van Haeringen, A. and Paulussen, A. and Herbergs, J. and Schrander-Stumpel, C. T. R. M. and Janecke, A. R. and Chitayat, D. and Hahn, J. and McDonald-McGinn, D. M. and Zackai, E. H. and Dobyns, W. B. and Muenke, M. (2009) Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. JOURNAL OF MEDICAL GENETICS, 46 (6). pp. 389-398. ISSN 0022-2593, 1468-6244

Uyanik, G. and Hehr, U. (2009) Congenital brain malformations and mental retardation. MEDIZINISCHE GENETIK, 21 (2). pp. 217-223. ISSN 1863-5490

Schuele, R. and Schlipf, N. and Synofzik, M. and Klebe, S. and Klimpe, S. and Hehr, U. and Winner, B. and Lindig, T. and Dotzer, A. and Riess, O. and Winkler, J. and Schoels, Ludger and Bauer, P. (2009) Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 80 (12). pp. 1402-1404. ISSN 0022-3050, 1468-330X

Judas, M. and Sedmak, G. and Rados, M. and Sarnavka, V. and Fumic, K. and Willer, T. and Gross, C. and Hehr, U. and Strahl, S. and Cuk, M. and Baric, I. (2009) POMT1-Associated Walker-Warburg Syndrome: A Disorder of Dendritic Development of Neocortical Neurons. NEUROPEDIATRICS, 40 (1). pp. 6-14. ISSN 0174-304X, 1439-1899

Ebenrett, I. and Koerber, F. and Gabriel, H. and Hehr, U. and Heller, R. and Hoopmann, Markus (2009) Targeted Genetic Diagnosis After First Trimester Ultrasound for Lethal Fetal Skeletal Dysplasia. GEBURTSHILFE UND FRAUENHEILKUNDE, 69 (3). pp. 244-247. ISSN 0016-5751, 1438-8804

Manvelyan, M. and Schreyer, I. and Hoels-Herpertz, I. and Koehler, S. and Niemann, R. and Hehr, U. and Belitz, B. and Bartels, I. and Goetz, J. and Huhle, D. and Kossakiewicz, M. and Tittelbach, H. and Neubauer, S. and Polityko, A. and Mazauric, M-L. and Wegner, R. and Stumm, M. and Kuepferling, P. and Suess, F. and Kunze, H. and Weise, A. and Liehr, T. and Mrasek, K. (2007) Forty-eight new cases with infertility due to balanced chromosomal rearrangements: Detailed molecular cytogenetic analysis of the 90 involved breakpoints. INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE, 19 (6). pp. 855-864. ISSN 1107-3756, 1791-244X

Uyanik, G. and Hehr, U. and Winkler, J. (2007) Genetics of cortical malformations. EPILEPSIA, 48 (Suppl3). pp. 6-7. ISSN 0013-9580

Uyanik, G. and Morris-Rosendahl, D. J. and Stiegler, J. and Klapecki, J. and Gross, C. and Berman, Y. and Martin, P. and Dey, L. and Spranger, S. and Korenke, G. C. and Schreyer, I. and Hertzberg, C. and Neumann, T. E. and Burkart, P. and Spaich, C. and Meng, N. and Holthausen, H. and Ades, L. and Seidel, J. and Mangold, E. and Buyse, G. and Meinecke, P. and Schara, U. and Zeschnigk, C. and Muller, D. and Helland, G. and Schulze, B. and Wright, M. L. and Kortge-Jung, S. and Hehr, A. and Bogdahn, U. and Schuierer, G. and Kohlhase, J. and Aigner, L. and Wolff, G. and Hehr, U. and Winkler, J. (2007) Location and type of mutation in the LIS1 gene do not predict phenotypic severity. NEUROLOGY, 69 (5). pp. 442-447. ISSN 0028-3878

Baric, I. and Rados, M. and Fumic, K. and Sarnavka, V and Strahl, S. and Willer, T. and Gross, C. and Hehr, U. and Cuk, M. and Judas, M. (2006) Cortical neuronal morphology and MR spectroscopy in Walker-Warburg syndrome caused by novel POMT1 mutation. JOURNAL OF INHERITED METABOLIC DISEASE, 29 (Suppl1). p. 142. ISSN 0141-8955

Olmez, A. and Uyanik, G. and Ozgul, R. K. and Gross, C. and Cirak, S. and Elibol, B. and Anlar, B. and Winner, B. and Hehr, U. and Topaloglu, H. and Winkler, Juergen (2006) Further clinical and genetic characterization of SPG11: Hereditary spastic paraplegia with thin corpus callosum. NEUROPEDIATRICS, 37 (2). pp. 59-66. ISSN 0174-304X

Schara, U. and Kress, W. and Vorgerd, M. and Gross, C. and Winkler, J. and Hehr, U. and Mortier, W. and Uyanik, G. (2006) Phenotype and muscle biopsy findings in the first German patient with limb-girdle muscular dystrophy 2K - Important differential diagnosis of Becker muscular dystrophy. NEUROMUSCULAR DISORDERS, 16 (9-10). p. 680. ISSN 0960-8966

Meyer, Sascha and Struffert, T. and Uyanik, Goekhan and Oehl-Jaschkowitz, B. and Hehr, U. and Shamdeen, M. G. (2005) Congenital muscular dystrophies: Muscle-eye-brain disease. KLINISCHE PADIATRIE, 217 (2). pp. 68-69. ISSN 0300-8630

Hartmann, Hans and Uyanik, G. and Gross, C. and Hehr, U. and Lucke, T. and Arslan-Kirchner, M. and Antosch, B. and Das, A. M. and Winkler, J. (2004) Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the aristaless-related homeobox gene. NEUROPEDIATRICS, 35 (3). pp. 157-160. ISSN 0174-304X

Hahn, Andreas and Gross, C. and Uyanik, G. and Hehr, U. and Huegens-Penzel, M. and Alzen, G. and Neubauer, B. A. (2004) X-linked lissencephaly with abnormal genitalia associated with renal phosphate wasting. NEUROPEDIATRICS, 35 (3). pp. 202-205. ISSN 0174-304X

Uyanik, G. and Aigner, L. and Martin, P. and Gross, C. and Neumann, D. and Marschner-Schafer, H. and Hehr, U. and Winkler, Juergen (2003) ARX mutations in X-linked lissencephaly with abnormal genitalia. NEUROLOGY, 61 (2). pp. 232-235. ISSN 0028-3878

Uyanik, G. and Hehr, U. and Aigner, L. and Winkler, Juergen (2003) Neuronal migration disorders: Clinic and molecular genetics of lissencephalies. AKTUELLE NEUROLOGIE, 30 (7). pp. 328-334. ISSN 0302-4350, 1438-9428

Conference or Workshop Item

Fastenmeier, C. and Schnabel, A. and Hehr, U. and Koeninger, A. (2023) Case Presentation Opitz G/BBB Syndrome Type I(heterozygous). In: Gemeinsamer Kongress der Bayerischen Gesellschaft für Geburtshilfe und Frauenheilkunde (BGGF) und der Österreichischen Gesellschaft für Gynäkologie und Geburtshilfe (OEGGG) 2023, 23.–24.06.2023, Würzburg.

Oegema, R. and Barakat, T. and Bahi-Buisson, N. and Aronica, E. and Conti, V. and Zaki, M. and Dobyns, W. and Fry, A. and Geis, T. and Andres, D. Gomez and Guerrini, R. and Hehr, U. and Jansen, A. and Leventer, R. and Amron, D. and Mirzaa, G. and Parrini, E. and Pilz, D. and Said, E. and Soler, D. and Stouffs, K. and Valor, L. M. and Reiner, O. and Pogledic, I. and Wilke, M. and Mancini, G. M. S. and Di Donato, N. (2020) Malformations of cortical development: international consensus recommendations on diagnostic work-up. In: 53rd European Society of Human Genetics (ESHG) Conference, June 6–9, 2020, Virtuell.

Ölmez, A. and Uyanik, G. and Gross, C. and Winner, B. and Özgül, R. K. and Cirak, S. and Hehr, U. and Winkler, J. and Topaloglu, H. (2005) A cross section of autosomal recessive hereditary spastic paraplegias. In: 10th International Congress of the World Muscle Society, September 28-October 1, 2005, Iguassu Falls, Brazil.

Haliloglu, G. and Gross, C. and Talim, B. and Hehr, U. and Uyanik, G. and Winkler, J. and Topaloglu, H. (2004) Severe autistic features in a child with muscle-eye-brain disease. In: 9th International Congress of the World Muscle Society, September 01-04, 2004, Göteborg, Sweden.

Other

Hinreiner, S. and Roedl, T. and Geis, T. and Melter, M. and Schuierer, G. and Hehr, U. (2019) Cerebral MR imaging based genetic assessment of brain malformations. NATURE PUBLISHING GROUP, LONDON.

Kuechler, A. and Elgizouli, M. and Rupprich, K. and Stein, A. and Dzietko, M. and Iannaccone, A. and Koeninger, A. and Schweiger, B. and Koelbel, H. and Schara, U. and Hehr, U. (2019) POMK-associated Walker-Warburg Syndrome (WWS) in monozygotic twins with occipital meningocele. NATURE PUBLISHING GROUP, LONDON.

Hehr, U. and Schoenbuchner, I. and Weber, B. H. F. (2014) Human genetic diagnostics in gynecological practice. GEORG THIEME VERLAG KG, STUTTGART.

Hehr, A. and Gassner, C. and Paulmann, B. and Kowalzyk, Z. and Klatt, M. and Krauss, S. and Seifert, D. and Seifert, B. and Hehr, U. (2013) PGD for monogenic disorders on polar bodies (PBD) - impact of clinical parameters on PBD outcome. OXFORD UNIV PRESS, OXFORD.

Kasper, B. S. and Chang, B. S. and Kurzbuch, K. and Pauli, E. and Hehr, U. (2013) X-LINKED PERIVENTRICULAR NODULAR HETEROTOPIA DUE TO FLNA-MUTATION INHERITED BY THE FATHER. WILEY-BLACKWELL, HOBOKEN.