Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Annegret Kujat"'
Publikováno v:
Fetal Diagnosis and Therapy. 26:219-222
We report on partial duplication 21q resulting from a paternal insertion identified during prenatal diagnosis. While performing interphase fluorescence in situ hybridization (I-FISH), we were able to identify 3 signals of the LSI 21 Spectrum Orange p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de51042782f31bdb74eeaf12d5e8b264
https://doi.org/10.1159/000265555
https://doi.org/10.1159/000265555
Publikováno v:
Oncology Research and Treatment. 31:625-628
Peutz-Jeghers syndrome (PJS), a rare hereditary disorder, is characterized by the occurrence of gastrointestinal hamartomatous polyps associated with mucocutaneous pigmentation. Patients are at an increased cancer risk not only for gastrointestinal b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5015b1c3d2325af53b30293824904ce
https://doi.org/10.1159/000162284
https://doi.org/10.1159/000162284
Publikováno v:
Kinder- und Jugendmedizin. 7:183-187
ZusammenfassungDie genetische Beratung ist integraler Bestandteil in der Abklärung genetisch bedingter und mitbedingter Entwicklungsstörungen im Kindesalter. Wichtige Elemente der genetischen Beratung sind die Stammbaumerhebung sowie die klinisch-g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3165399b1121ba218d1d927f337fa0e7
https://doi.org/10.1055/s-0037-1617964
https://doi.org/10.1055/s-0037-1617964
Publikováno v:
Kinder- und Jugendmedizin. 7:189-196
ZusammenfassungAls Ursache einer großen Zahl von MCA/MR-Syndromen (multiple kongenitale Anomalien/mentale Retardierung) wurden Mikrodeletionen identifiziert. Wir veranschaulichen häufige Mikrodeletionssyndrome unter Berücksichtigung der zugrunde l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::202346157e48f0b6fd6354146c7ce9c5
https://doi.org/10.1055/s-0037-1617965
https://doi.org/10.1055/s-0037-1617965
Autor:
Werner Johann Kleemann, Ursula G. Froster, Stefan Heinze, Dieter Kotzot, Wolfram Heinritz, Annegret Kujat
Publikováno v:
American Journal of Medical Genetics Part A. :198-201
We report on an adult male with Klinefelter phenotype and an isodicentric Y chromosome (47,XX,+idic(Y)(q12)), a combination which has to the best of our knowledge not been reported before. The patient was hospitalized in forensic psychiatry because o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdc8b87360f0cd86507ece8a2298c66d
https://doi.org/10.1002/ajmg.a.30446
https://doi.org/10.1002/ajmg.a.30446
Autor:
Joerg Seidel, H. Ümit Lüleyap, Annegret Kujat, Ursula G. Froster, Peter Kirst, Saskia Bräutigam
Publikováno v:
Molecular Genetics and Metabolism. 78:205-210
PubMedID: 12649065 Denaturing high-performance liquid chromatography (DHPLC) is a sensitive and fast method for the detection of mutations which has been successfully used for mutation screening in several disease-related genes. Phenylketonuria (PKU,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b392ea248adbf98f5fcb3133722f471c
https://doi.org/10.1016/s1096-7192(02)00228-7
https://doi.org/10.1016/s1096-7192(02)00228-7
Autor:
Stephanie Schönekerl, Annegret Kujat, Dieter Kotzot, Ursula G. Froster, Dirk Hausen, Renaldo Faber
Publikováno v:
Human Reproduction. 17:912-915
We report on a pair of dizygotic twin boys born after ICSI. One twin was affected with maternal meiosis I-derived free trisomy 21. The other had multiple congenital malformations including a complex heart defect and oesophageal atresia. The advanced
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e33c4e06c7291413836f38f05b0e15c
https://doi.org/10.1093/humrep/17.4.912
https://doi.org/10.1093/humrep/17.4.912
Autor:
David J. Amor, Ingo Hansmann, Joannis Giannakudis, Albrecht Röpke, Jean-Pierre Fryns, Mike Schlicker, Agnes Bankier, Annegret Kujat, Małgorzata Krajewska-Walasek, Helen E. Hughes
Publikováno v:
European Journal of Human Genetics. 9:209-216
The Alagille syndrome (AGS), a congenital disorder affecting liver, heart, skeleton and eye in association with a typical face, is an autosomal dominant disease with nearly complete penetrance and variable expression. AGS is caused by mutations in th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a850a5f7a3fac0738c73875b5e1e3763
https://doi.org/10.1038/sj.ejhg.5200613
https://doi.org/10.1038/sj.ejhg.5200613
Autor:
Kathrin Hoffmann, Jürgen Mücke, Dieter Kotzot, Ursula G. Froster, Annegret Kujat, Heidrun Holland
Publikováno v:
American Journal of Medical Genetics. 113:108-110
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1fa88d6a83e487ffc0537a0c72b26d4c
https://doi.org/10.1002/ajmg.10718
https://doi.org/10.1002/ajmg.10718
Autor:
Christiane Zweier, Wolfram Heinritz, Sibylle Strenge, Annegret Kujat, Steffen Syrbe, Ursula G. Froster, Volker Schuster, Anita Rauch
Publikováno v:
American journal of medical genetics. Part A. 140(11)
Mowat-Wilson syndrome (MWS) is a rare mental retardation-multiple congenital anomalies syndrome associated with typical facial dysmorphism. Patients can show a variety of other anomalies like short stature, microcephaly, Hirschsprung disease, malform
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::972b2cfa9d20ec2a7327fa79eab5754a
https://pubmed.ncbi.nlm.nih.gov/16688751
https://pubmed.ncbi.nlm.nih.gov/16688751