DDX3X mutations in two girls with a phenotype overlapping Toriello–Carey syndrome
Dikow, Nicola, Granzow, Martin, Graul‐Neumann, Luitgard M., Karch, Stephanie, Hinderhofer, Katrin, Paramasivam, Nagarajan, Behl, Laura‐Jane, Kaufmann, Lilian, Fischer, Christine, Evers, Christina, Schlesner, Matthias, Eils, Roland, Borck, Guntram, Zweier, Christiane, Bartram, Claus R., Carey, John C., Moog, Ute
Published in American journal of medical genetics. Part A (01.05.2017)
Published in American journal of medical genetics. Part A (01.05.2017)
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Journal Article
A Novel RAB33B Mutation in Smith-McCort Dysplasia
Dupuis, Nina, Lebon, Sophie, Kumar, Manoj, Drunat, Séverine, Graul-Neumann, Luitgard M., Gressens, Pierre, El Ghouzzi, Vincent
Published in Human mutation (01.02.2013)
Published in Human mutation (01.02.2013)
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Journal Article
Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3′ terminus of the FBN1-gene
Graul-Neumann, Luitgard M., Kienitz, Tina, Robinson, Peter N., Baasanjav, Sevjidmaa, Karow, Benjamin, Gillessen-Kaesbach, Gabriele, Fahsold, Raimund, Schmidt, Hartmut, Hoffmann, Katrin, Passarge, Eberhard
Published in American journal of medical genetics. Part A (01.11.2010)
Published in American journal of medical genetics. Part A (01.11.2010)
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Journal Article
Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics
Wildhardt, Gabriele, Zirn, Birgit, Graul-Neumann, Luitgard M, Wechtenbruch, Juliane, Suckfüll, Markus, Buske, Annegret, Bohring, Axel, Kubisch, Christian, Vogt, Stefanie, Strobl-Wildemann, Gertrud, Greally, Marie, Bartsch, Oliver, Steinberger, Daniela
Published in BMJ open (01.01.2013)
Published in BMJ open (01.01.2013)
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Journal Article
A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH
Klopocki, Eva, Graul-Neumann, Luitgard M., Grieben, Ulrike, Tönnies, Holger, Ropers, Hans-Hilger, Horn, Denise, Mundlos, Stefan, Ullmann, Reinhard
Published in European journal of pediatrics (01.08.2008)
Published in European journal of pediatrics (01.08.2008)
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Journal Article
Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy
Passarge, Eberhard, Robinson, Peter N, Graul-Neumann, Luitgard M
Published in European journal of human genetics : EJHG (01.08.2016)
Published in European journal of human genetics : EJHG (01.08.2016)
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Journal Article
Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon‐like craniosynostosis, and severe trauma‐induced bleeding
Graul‐Neumann, Luitgard M., Bach, Alexia, Albani, Michael, Ringe, Hannelore, Weimann, Andreas, Kress, Wolfram, Hiort, Olaf, Bartsch, Oliver
Published in American journal of medical genetics. Part A (01.07.2009)
Published in American journal of medical genetics. Part A (01.07.2009)
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Journal Article
Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11
TZSCHACH, Andreas, BISGAARD, Anne-Marie, KALSCHEUER, Vera M, ULLMANN, Reinhard, KIRCHHOFF, Maria, GRAUL-NEUMANN, Luitgard M, NEITZEL, Heidemarie, PAGE, Stephanie, AHMED, Alischo, MÜLLER, Ines, ERDOGAN, Fikret, ROPERS, Hans-Hilger
Published in European journal of human genetics : EJHG (01.03.2010)
Published in European journal of human genetics : EJHG (01.03.2010)
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Journal Article
New mutations in the ATM gene and clinical data of 25 AT patients
Demuth, Ilja, Dutrannoy, Véronique, Marques, Wilson, Neitzel, Heidemarie, Schindler, Detlev, Dimova, Petja S., Chrzanowska, Krystyna H., Bojinova, Veneta, Gregorek, Hanna, Graul-Neumann, Luitgard M., von Moers, Arpad, Schulze, Ilka, Nicke, Marion, Bora, Elcin, Cankaya, Tufan, Oláh, Éva, Kiss, Csongor, Bessenyei, Beáta, Szakszon, Katalin, Gruber-Sedlmayr, Ursula, Kroisel, Peter Michael, Sodia, Sigrun, Goecke, Timm O., Dörk, Thilo, Digweed, Martin, Sperling, Karl, de Sá, Joaquim, Lourenco, Charles Marques, Varon, Raymonda
Published in Neurogenetics (01.11.2011)
Published in Neurogenetics (01.11.2011)
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Journal Article
Interstitial deletion 2p11.2–p12: Report of a patient with mental retardation and review of the literature
Tzschach, Andreas, Graul‐Neumann, Luitgard M., Konrat, Kateryna, Richter, Reyk, Ebert, Grit, Ullmann, Reinhard, Neitzel, Heidemarie
Published in American journal of medical genetics. Part A (01.02.2009)
Published in American journal of medical genetics. Part A (01.02.2009)
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Journal Article
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
Schmidts, Miriam, Arts, Heleen H, Bongers, Ernie M H F, Yap, Zhimin, Oud, Machteld M, Antony, Dinu, Duijkers, Lonneke, Emes, Richard D, Stalker, Jim, Yntema, Jan-Bart L, Plagnol, Vincent, Hoischen, Alexander, Gilissen, Christian, Forsythe, Elisabeth, Lausch, Ekkehart, Veltman, Joris A, Roeleveld, Nel, Superti-Furga, Andrea, Kutkowska-Kazmierczak, Anna, Kamsteeg, Erik-Jan, Elçioğlu, Nursel, van Maarle, Merel C, Graul-Neumann, Luitgard M, Devriendt, Koenraad, Smithson, Sarah F, Wellesley, Diana, Verbeek, Nienke E, Hennekam, Raoul C M, Kayserili, Hulya, Scambler, Peter J, Beales, Philip L, Knoers, Nine VAM, Roepman, Ronald, Mitchison, Hannah M
Published in Journal of medical genetics (01.05.2013)
Published in Journal of medical genetics (01.05.2013)
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Journal Article
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies
Southgate, Laura, Sukalo, Maja, Karountzos, Anastasios S V, Taylor, Edward J, Collinson, Claire S, Ruddy, Deborah, Snape, Katie M, Dallapiccola, Bruno, Tolmie, John L, Joss, Shelagh, Brancati, Francesco, Digilio, M Cristina, Graul-Neumann, Luitgard M, Salviati, Leonardo, Coerdt, Wiltrud, Jacquemin, Emmanuel, Wuyts, Wim, Zenker, Martin, Machado, Rajiv D, Trembath, Richard C
Published in Circulation. Cardiovascular genetics (01.08.2015)
Published in Circulation. Cardiovascular genetics (01.08.2015)
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Journal Article
An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome
Boschann, Felix, Fischer-Zirnsak, Björn, Wienker, Thomas F., Holtgrewe, Manuel, Seelow, Dominik, Eichhorn, Birgit, Döhnert, Steffi, Fahsold, Raimund, Horn, Denise, Graul-Neumann, Luitgard M.
Published in European journal of medical genetics (01.09.2020)
Published in European journal of medical genetics (01.09.2020)
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Journal Article
Clinical report of 8 patients with 49,XXXXY syndrome: Delineation of the facial gestalt and depiction of the clinical spectrum
Burgemeister, Anna L., Daumiller, Eva, du Bois, Gabriele, Graul-Neumann, Luitgard M., Köhler, Birgit, Knecht, Susanne, Burgemeister, Stefan, Gronwald, Sarah, Maurer, Martin H., Zirn, Birgit
Published in European journal of medical genetics (01.03.2019)
Published in European journal of medical genetics (01.03.2019)
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Journal Article
Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome
Graul-Neumann, Luitgard M., Mensah, Martin A., Klopocki, Eva, Uebe, Steffen, Ekici, Arif B., Thiel, Christian T., Reis, André, Zweier, Christiane
Published in European journal of medical genetics (01.07.2018)
Published in European journal of medical genetics (01.07.2018)
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Journal Article
Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family
Graul-Neumann, Luitgard M., Klopocki, Eva, Adolphs, Nicolai, Mensah, Martin A., Kress, Wolfram
Published in Molecular syndromology (01.03.2017)
Published in Molecular syndromology (01.03.2017)
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Journal Article
Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe
Graul-Neumann, Luitgard M, Deichsel, Alexandra, Wille, Ulrike, Kakar, Naseebullah, Koll, Randi, Bassir, Christian, Ahmad, Jamil, Cormier-Daire, Valerie, Mundlos, Stefan, Kubisch, Christian, Borck, Guntram, Klopocki, Eva, Mueller, Thomas D, Doelken, Sandra C, Seemann, Petra
Published in European journal of human genetics : EJHG (01.06.2014)
Published in European journal of human genetics : EJHG (01.06.2014)
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Journal Article