Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Katarina Lehmann"'
Autor:
Reinhard Ullmann, Claus-Eric Ott, Eva Klopocki, Niels Benatar, Stefan Mundlos, Katarina Lehmann
Publikováno v:
Journal of Medical Genetics. 45:370-375
Background: Sonic hedgehog (SHH) plays an important role in defining the anterior–posterior axis in the developing limbs. A highly conserved non-coding sequence about ∼ 1 Mb upstream from the sonic hedgehog gene ( SHH ) was shown to be a long ran
Autor:
Katarina Lehmann, C. Reissner, S. Irgang, Klaus W. Kjaer, Fatma Silan, Petra Seemann, Andrew O.M. Wilkie, Susanne Morlot, S. Kjaergaard, Stefan Mundlos, Timm O. Goecke, Maurice J. Mahoney, Bronwyn Kerr
Publikováno v:
The American Journal of Human Genetics. 81:388-396
Wilkie, Andrew/0000-0002-2972-5481; Seemann, Petra/0000-0002-6056-6669; Dathe, Katarina/0000-0002-8674-5817 WOS: 000248540400018 PubMed: 17668388 (B) under bar rachy (d) under bar actyly type B (BDB) is characterized by terminal deficiency of fingers
Autor:
Lars-Erik Wehner, Katarina Lehmann, Anna Leana Schulz, Dirk Schnabel, Rainer Koenig, Kerstin Kutsche, Peter Meinecke, Martin Zenker, Stefan Mundlos, Dagmar Hansmann, Denise Horn, Susanne Morlot, Martina Kreiss-Nachtsheim, Rudolf Korinthenberg, Christian P. Kratz, Salmo Raskin, Helmut Barth, Anne S. Quante
Publikováno v:
Journal of Medical Genetics. 44:131-135
Background: Noonan syndrome, cardio-facio-cutaneous syndrome (CFC) and Costello syndrome constitute a group of developmental disorders with an overlapping pattern of congenital anomalies. Each of these conditions can be caused by germline mutations i
Publikováno v:
Monatsschrift Kinderheilkunde. 153:651-656
Wir beschreiben die verschiedenartige klinische Symptomatik von 4 Patienten, bei denen Mutationen im p63-Gen nachgewiesen wurden. Das Spektrum reicht von einer isolierten Spaltbildung an Handen und Fusen (Patient 1), uber eine Spalthand- und Spaltfus
Autor:
Zhi Chen, Jeffrey W. Innis, Thomas M. Williams, Stefan Mundlos, Douglas P. Mortlock, Davor Mikulic, Michael Ludwig, Katarina Lehmann, Zhihong Shao, Michael W. Glynn, Melissa E. Williams, Colleen D. Doyle, Boris Utsch
Publikováno v:
Human Molecular Genetics. 13:2841-2851
Polyalanine expansions in two of three large imperfect trinucleotide repeats encoded by the first exon of HOXA13 have been reported in hand-foot-genital syndrome (HFGS). Here we report additional families with expansions in the third repeat of 11 and
Autor:
Katarina Lehmann, Frank Majewski, Peter Nürnberg, Petra Seemann, Katrin Süring, Marai Sammar, Sigmar Stricker, Dietmar Müller, Birgit Meyer, Sigrid Tinschert, Karl-Heinz Grzeschik, Stefan Mundlos, Petra Knaus
Publikováno v:
Proceedings of the National Academy of Sciences. 100:12277-12282
Brachydactyly (BD) type A2 is an autosomal dominant hand malformation characterized by shortening and lateral deviation of the index fingers and, to a variable degree, shortening and deviation of the first and second toes. We performed linkage analys
Autor:
Rabih Chaoui, C. Tennstedt, Sigrid Tinschert, Susann Schweiger, Stefan Mundlos, Katarina Lehmann
Publikováno v:
American Journal of Medical Genetics. :547-552
We report on a fetus of 27 weeks of gestation whose clinical, radiological, and histopathological findings are compatible with the prenatal form of Caffey disease (cortical hyperostosis). Prenatal ultrasound examination showed polyhydramnios and mark
Autor:
Rolf Becker, R. D. Wegner, Gundula Thiel, Rainer Bollmann, Ines Schulzke, H. Körner, C. Tennstedt, Christiane Bommer, Katarina Lehmann, Maik Urban
Publikováno v:
American Journal of Medical Genetics. 108:97-104
Prenatal and postnatal findings in three fetuses with a ring chromosome 6 are presented, and the literature of this rare cytogenetic disorder is reviewed. The described fetuses illustrate the broad spectrum of the clinical manifestation of ring chrom
Publikováno v:
American journal of medical genetics. Part A. (16)
Du Pan type chondrodysplasia (DPC) represents the milder end of homozygous growth differentiation factor 5 (GDF5) disorders. We report on a 20-month-old child with complex brachydactyly and mild proximal fibular hypoplasia, consistent with DPC, in th
Publikováno v:
Bone Morphogenetic Proteins: From Local to Systemic Therapeutics ISBN: 9783764385514
The existence of bone morphogenetic proteins (BMPs) was postulated by Urist already in 1965 based on the observation that dematerialized bone matrix is able to induce bone formation when transplanted into the muscle of rabbits or rats [1]. Because he
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::120e0f279351638904faf3bec6436926
https://doi.org/10.1007/978-3-7643-8552-1_8
https://doi.org/10.1007/978-3-7643-8552-1_8