Marfanoid–progeroid–lipodystrophy syndrome: a newly recognized fibrillinopathy

Por Passarge, Eberhard, Robinson, Peter N, Graul-Neumann, Luitgard M
Publicado no Eur J Hum Genet (2016)

Interstitial 12p deletion involving more than 40 genes in a patient with postnatal microcephaly, psychomotor delay, optic nerve atrophy, and facial dysmorphism()

Por Hoppe, Anne, Heinemeyer, Jan, Klopocki, Eva, Graul-Neumann, Luitgard M., Spors, Birgit, Bittigau, Petra, Kaindl, Angela M.
Publicado no Meta Gene (2014)

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH

Por Klopocki, Eva, Graul-Neumann, Luitgard M., Grieben, Ulrike, Tönnies, Holger, Ropers, Hans-Hilger, Horn, Denise, Mundlos, Stefan, Ullmann, Reinhard
Publicado em 2007

Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11

Por Tzschach, Andreas, Bisgaard, Anne-Marie, Kirchhoff, Maria, Graul-Neumann, Luitgard M, Neitzel, Heidemarie, Page, Stephanie, Ahmed, Alischo, Müller, Ines, Erdogan, Fikret, Ropers, Hans-Hilger, Kalscheuer, Vera M, Ullmann, Reinhard
Publicado em 2010

Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics

Por 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
Publicado em 2013

Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe

Por 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
Publicado em 2014

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome with Variable Cardiac Anomalies

Por 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.
Publicado no Circ Cardiovasc Genet (2015)

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Por 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
Publicado em 2013