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Kretz, R; Bozorgmehr, B; Kariminejad, M H; Rohrbach, M; Hausser, I; Baumer, A; Baumgartner, M; Giunta, C; Kariminejad, A; Häberle, J (2011). Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities. Journal of Inherited Metabolic Disease, 34(3):731-739.

Yakut, S; Simsek, M; Pestereli, H E; Baumer, A; Luleci, G; Schinzel, A (2011). Del (18p) syndrome with increased nuchal translucency revealed in prenatal diagnosis. Genetic Counseling, 22(3):317-319.

Templin, C; Ghadri, J R; Rougier, J S; Baumer, A; Kaplan, V; Albesa, M; Sticht, H; Rauch, A; Puleo, C; Hu, D; Barajas-Martinez, H; Antzelevitch, C; Lüscher, T F; Abriel, H; Duru, F (2011). Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6). European Heart Journal, 32(9):1077-1088.

Kariminejad, A; Kariminejad, R; Moshtagh, A; Zanganeh, M; Kariminejad, M H; Neuenschwander, S; Okoniewski, M; Wey, E; Schinzel, A; Baumer, A (2011). Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18. European Journal of Human Genetics, 19(5):555-560.

Moreira, L; Schinzel, A; Baumer, A; Pinto, P; Góes, F; de Lourdes Falcao, M; Barbosa, A L; Riegel, M (2010). Erratum to “Longitudinal Observation of a Patient With Rieger Syndrome and Interstitial Deletion 4 (q25-q31.1)” [Am J Med Genet Part A 152A:977-981]. American Journal of Medical Genetics. Part A, 152A(6):1602-1603.

Shimomura, Y; Agalliu, D; Vonica, A; Luria, V; Wajid, M; Baumer, A; Belli, S; Petukhova, L; Schinzel, A; Brivanlou, A H; Barres, B A; Christiano, A M (2010). APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. Nature Medicine, 464(7291):1043-1047.

Moreira, L; Schinzel, A; Baumer, A; Pinto, P; Góes, F; de Lourdes Falcão, M; Barbosa, A L; Riegel, M (2010). Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25-q31.1). American Journal of Medical Genetics. Part A, 152A(4):977-981.

Minder, E I; Schneider-Yin, X; Mamet, R; Horev, L; Neuenschwander, S; Baumer, A; Austerlitz, F; Puy, H; Schoenfeld, N (2010). A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma. Journal of the European Academy of Dermatology and Venereology, 24(11):1349-1353.

Sharp, A J; Migliavacca, E; Dupre, Y; Stathaki, E; Sailani, M R; Baumer, A; Schinzel, A; Mackay, D J; Robinson, D O; Cobellis, G; Cobellis, L; Brunner, H G; Steiner, B; Antonarakis, S E (2010). Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15. Genome Research, 20(9):1271-1278.

von Kanel, T; Gerber, D; Schaller, A; Baumer, A; Wey, E; Jackson, C B; Gisler, F M; Heinimann, K; Gallati, S (2010). Quantitative 1-step DNA methylation analysis with native genomic DNA as template. Clinical Chemistry, 56(7):1098-1106.

Bartholdi, D; Krajewska-Walasek, M; Ounap, K; Gaspar, H; Chrzanowska, K H; Ilyana, H; Kayserili, H; Lurie, I W; Schinzel, A; Baumer, A (2009). Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell Syndrome (SRS): Results from a large cohort of patients with SRS and SRS-like phenotypes. Journal of Medical Genetics, 46(3):192-197.

Bernier-Latmani, J; Baumer, A; Shaw, P (2009). No evidence for mutations of CTCFL/BORIS in Silver-Russell syndrome patients with IGF2/H19 imprinting control region 1 hypomethylation. PLoS ONE, 4(8):e6631.

Gaspar, H; Albermann, K; Baumer, A; Schinzel, A (2008). Clinical delineation of Giuffrè-Tsukahara syndrome: another case with microcephaly and radio-ulnar synostosis with apparent X-linked semi-dominant inheritance. American Journal of Medical Genetics. Part A, 146A(11):1453-1457.

Rossi, E; Riegel, M; Messa, J; Gimelli, S; Maraschio, P; Ciccone, R; Stroppi, M; Riva, P; Perrotta, C S; Mattina, T; Memo, L; Baumer, A; Kucinskas, V; Castellan, C; Schinzel, A; Zuffardi, O (2008). Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation. Journal of Medical Genetics, 45(3):147-54.

Koolen, D A; Sistermans, E A; Nilessen, W; Knight, S J L; Regan, R; Liu, Y T; Kooy, R F; Rooms, L; Romano, C; Fichera, M; Schinzel, A; Baumer, A; Anderlid, B M; Schoumans, J; van Kessel, A G; Nordenskjold, M; de Vries, B B A (2008). Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches. European Journal of Human Genetics, 16(3):395-400.

Zech, N H; Wisser, J; Natalucci, G; Riegel, M; Baumer, A; Schinzel, A (2008). Monochorionic-diamniotic twins discordant in gender from a naturally conceived pregnancy through postzygotic sex chromosome loss in a 47,XXY zygote. Prenatal Diagnosis, 28(8):759-763.

Rutz, C; Dalessi, S; Baumer, A; Kestenholz, M; Engels, M; Hoop, R (2007). Aviäre Influenza: Wildvogelmonitoring in der Schweiz zwischen 2003-2006. Schweizer Archiv für Tierheilkunde, 149(11):501-509.

Bartholdi, D; Klein, A; Weissert, M; Koenig, N; Baumer, A; Boltshauser, E; Schinzel, A; Berger, W; Mátyás, G (2006). Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene. Clinical Genetics, 69(4):319-326.

Baumer, A; Balmer, D; Schinzel, A (1999). Screening for UBE3A gene mutations in a group of Angelman syndrome patients selected according to non-stringent clinical criteria. Human Genetics, 105(6):598-602.

Baumer, A (1998). High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions. Human Molecular Genetics, 7(5):887-894.

This list was generated on Thu Jun 27 02:43:16 2019 CEST.