BRF1 mutations in a family with growth failure, markedly delayed bone age, and central nervous system anomalies
Jee, Y.H., Sowada, N., Markello, T.C., Rezvani, I., Borck, G., Baron, J.
Published in Clinical genetics (01.05.2017)
Published in Clinical genetics (01.05.2017)
Get full text
Journal Article
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families
Willems, M, Geneviève, D, Borck, G, Baumann, C, Baujat, G, Bieth, E, Edery, P, Farra, C, Gerard, M, Héron, D, Leheup, B, Le Merrer, M, Lyonnet, S, Martin-Coignard, D, Mathieu, M, Thauvin-Robinet, C, Verloes, A, Colleaux, L, Munnich, A, Cormier-Daire, V
Published in Journal of medical genetics (01.12.2010)
Published in Journal of medical genetics (01.12.2010)
Get full text
Journal Article
NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome
Borck, G, Redon, R, Sanlaville, D, Rio, M, Prieur, M, Lyonnet, S, Vekemans, M, Carter, N P, Munnich, A, Colleaux, L, Cormier-Daire, V
Published in Journal of medical genetics (01.12.2004)
Published in Journal of medical genetics (01.12.2004)
Get full text
Journal Article
High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel
Borck, G, Rainshtein, L, Hellman-Aharony, S, Volk, AE, Friedrich, K, Taub, E, Magal, N, Kanaan, M, Kubisch, C, Shohat, M, Basel-Vanagaite, L
Published in Clinical genetics (01.09.2012)
Published in Clinical genetics (01.09.2012)
Get full text
Journal Article
Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes
Wirth, J, Nothwang, H-G, van der Maarel, S, Menzel, C, Borck, G, Lopez-Pajares, I, Brøndum-Nielsen, K, Tommerup, N, Bugge, M, Ropers, H-H, Haaf, T
Published in Journal of medical genetics (01.04.1999)
Published in Journal of medical genetics (01.04.1999)
Get full text
Journal Article
Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation
Borck, G, Rio, M, Sanlaville, D, Redon, R, Molinari, F, Bacq, D, Raoul, O, Cormier-Daire, V, Lyonnet, S, Amiel, J, Merrer, M Le, De Blois, M-C, Prieur, M, Vekemans, M, Carter, NP, Munnich, A, Colleaux, L
Published in Clinical genetics (01.08.2004)
Published in Clinical genetics (01.08.2004)
Get full text
Journal Article
Molecular cytogenetic characterisation of a complex 46,XY,t(7;8;11;13) chromosome rearrangement in a patient with Moebius syndrome
BORCK, G, WIRTH, J, HARDT, T, TÖNNIES, H, BRØNDUM-NIELSEN, K, BUGGE, M, TOMMERUP, N, NOTHWANG, H-G, ROPERS, H-H, HAAF, T
Published in Journal of medical genetics (01.02.2001)
Published in Journal of medical genetics (01.02.2001)
Get full text
Journal Article
Pontocerebellar Hypoplasia Type 9: A New Subtype
Lustenberger, A., Lemke, J., Borck, G., Grunt, S., Steinlin, M.
Published in Neuropediatrics (16.04.2015)
Published in Neuropediatrics (16.04.2015)
Get full text
Conference Proceeding
Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome
Björkman, Andrea, Du, Likun, van der Burg, Mirjam, Cormier-Daire, Valerie, Borck, Guntram, Pié, Juan, Anderlid, Britt-Marie, Hammarström, Lennart, Ström, Lena, de Villartay, Jean-Pierre, Kipling, David, Dunn Walters, Deborah, Pan-Hammarström, Qiang
Published in Journal of allergy and clinical immunology (01.01.2018)
Published in Journal of allergy and clinical immunology (01.01.2018)
Get full text
Journal Article
Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations
Tantawy, Sally, Lin, Lin, Akkurt, Ilker, Borck, Guntram, Klingmüller, Dietrich, Hauffa, Berthold P, Krude, Heiko, Biebermann, Heike, Achermann, John C, Köhler, Birgit
Published in European journal of endocrinology (01.07.2012)
Published in European journal of endocrinology (01.07.2012)
Get full text
Journal Article
A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination
Enervald, Elin, Du, Likun, Visnes, Torkild, Björkman, Andrea, Lindgren, Emma, Wincent, Josephine, Borck, Guntram, Colleaux, Laurence, Cormier-Daire, Valerie, van Gent, Dik C, Pie, Juan, Puisac, Beatriz, de Miranda, Noel Fcc, Kracker, Sven, Hammarström, Lennart, de Villartay, Jean-Pierre, Durandy, Anne, Schoumans, Jacqueline, Ström, Lena, Pan-Hammarström, Qiang
Published in The Journal of experimental medicine (18.11.2013)
Published in The Journal of experimental medicine (18.11.2013)
Get full text
Journal Article
Approche diagnostique du sujet présentant un retard mental sévère et syndromique
Rio, M, Colleaux, L, Sanlaville, D, Borck, G, Molinari, F, Munnich, A
Published in Archives de pédiatrie (Paris) (2004)
Published in Archives de pédiatrie (Paris) (2004)
Get full text
Journal Article
Conference Proceeding
La CGH microarray : principe et applications en pathologie constitutionnelle
Sanlaville, D., Lapierre, J.M., Coquin, A., Turleau, C., Vermeesch, J., Colleaux, L., Borck, G., Vekemans, M., Aurias, A., Romana, S.P.
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.10.2005)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.10.2005)
Get full text
Journal Article
Monogene Adipositas: Neue diagnostische und therapeutische Möglichkeiten
von Schnurbein, J., Borck, G., Hinney, A., Wabitsch, M.
Published in Monatsschrift Kinderheilkunde (01.05.2018)
Published in Monatsschrift Kinderheilkunde (01.05.2018)
Get full text
Journal Article
Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients
Volk, Alexander E, Carter, Oliver, Fricke, Julia, Herkenrath, Peter, Poggenborg, Jörg, Borck, Guntram, Demant, Andre W, Ivo, Roland, Eysel, Peer, Kubisch, Christian, Neugebauer, Antje
Published in Molecular vision (2011)
Get full text
Published in Molecular vision (2011)
Journal Article
O1 – 1990 Clinical spectrum of dopamine transporter deficiency syndrome: from infantile parkinsonism-dystonia to juvenile parkinsonism
Ng, J, Li, Y, Zhen, J, Kakar, N, Ahmad, J, Thiele, H, Kubisch, C, Rider, N, Strauss, K, Holmes-Morton, D, D'Agnano, D, Anikster, Y, Carducci, C, Hyland, K, Rostein, M, Leuzzi, V, Borck, G, Reith, MEA, Kurian, MA
Published in European journal of paediatric neurology (01.09.2013)
Published in European journal of paediatric neurology (01.09.2013)
Get full text
Journal Article