Filamin A mutation is one cause of FG syndrome

Autor: Christian Spitz, Bernhard Zabel, Anna Bähr, Andrea Superti-Furga, Anita Mainberger, Sheila Unger, Christine Zeschnigk, Deborah J. Morris-Rosendahl

Publikováno v: American Journal of Medical Genetics Part A. :1876-1879

FG syndrome was originally described as a rare syndromic cause of X-linked mental retardation associated with congenital heart disease, anal atresia, inguinal hernia, cryptorchidism, and other anomalies. However, recent reports have highlighted the m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69bd99b2e8b93be3fc962cf636fe10a5
https://doi.org/10.1002/ajmg.a.31751

Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome : a study of the extensive clinical variability

Autor: William B. Dobyns, Ulrike Siebers-Renelt, Hanne Hove, Angelika Rieß, Christina Evers, Patrick Willems, Nataliya Tyshchenko, Gorazd Rudolf, James L. McGrath, Winnie Pradel, Maya Chopra, Gerhard Wolff, Jens Bekkebraten, Izak J. Bisschoff, Ketil Heimdal, Deborah J. Morris-Rosendahl, Ann Sophie Kaiser, Dagmar Wieczorek, Erdmut Kunstmann, Peter Jensen, Kristina Lagerstedt Robinson, Bernd Roesler, Katrina E. Prescott, Andreas Busche, Patricia Martin, Denise Horn, Christine Zeschnigk, Maja Linné, Brigitte Wellek, Maja Wessels

OFD1, now recognized as a ciliopathy, is characterized by malformations of the face, oral cavity and digits, and is transmitted as an X-linked condition with lethality in males. Mutations in OFD1 also cause X-linked Joubert syndrome (JBTS10) and Simp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb6ef6b09b996b621972b674ee4d08d1
https://www.ncbi.nlm.nih.gov/pubmed/23033313

Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly

Autor: Deborah J. Morris-Rosendahl, László Sztriha, G. Uyanik, C. Vasconcelos, V. Haug, Kerstin Kutsche, Augusta M. A. Lachmeijer, Alma Kuechler, M. Martins, Heymut Omran, P. Martin, U. Kraus, Christine Zeschnigk, J. Najm, Michael M. Dos Santos, Gerhard Schuierer, M.S. van der Knaap

Publikováno v: Morris-Rosendahl, D J, Najm, J, Lachmeijer, A M A, Sztriha, L, Martins, M, Kuechler, A, Haug, V, Zeschnigk, C, Martin, P, Santos, M, Vasconcelos, C, Omran, H, Kraus, U, van der Knaap, M S, Schuierer, G, Kutsche, K & Uyanik, G 2008, ' Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly ', Clinical Genetics, vol. 74, no. 5, pp. 425-433 . https://doi.org/10.1111/j.1399-0004.2008.01093.x
Clinical Genetics, 74(5), 425-433. Wiley-Blackwell
Clinical genetics, 74(5), 425-433. Wiley-Blackwell

Mutations in the α-1a Tubulin (TUBA1A) gene have recently been found to cause cortical malformations resemblant of classical lissencephaly but with a specific combination of features. To date, TUBA1A mutations have been described in five patients an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ef0f3347d2230c76d34f739512ea7e6
https://research.vumc.nl/en/publications/b69467c5-dc46-4dbb-a7c4-983d6b09a58c

Duck hepatitis B virus: DNA polymerase and reverse transcriptase activities of replicative complexes isolated from liver and their inhibition in vitro

Autor: Wolfgang Gerok, Christine Zeschnigk, Hubert E. Blum, W.-B. Offensperger, E. Walter, S Offensperger

Publikováno v: Virology. 164:48-54

The duck hepatitis B virus (DHBV)-associated activities of reverse transcriptase and DNA polymerase and their inhibition in vitro were studied. Replicative complexes (RCs) were isolated from DHBV-infected liver by gel chromatography followed by sucro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::784a9ba065a58e2d22ceb3a2a86c6c72
https://doi.org/10.1016/0042-6822(88)90618-6

Hepatocellular carcinoma and hepatitis B virus infection: molecular evidence for monoclonal origin and expansion of malignantly transformed hepatocytes

Autor: E. Walter, A Wahl, Christine Zeschnigk, Wolfgang Gerok, S Offensperger, W.-B. Offensperger, Hubert E. Blum

Publikováno v: Journal of cancer research and clinical oncology. 113(5)

The clonality of tumor cells was studied in a patient with metastasizing hepatocellular carcinoma (HCC). Using hepatitis B virus (HBV) DNA as a genetic marker, the pattern of integration of viral DNA into the tumor cell genome was determined by South

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57914454f8057a5592035d8407a78945
https://pubmed.ncbi.nlm.nih.gov/3040766