Search Results - "NEUMANN, Luitgard"

Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy by Passarge, Eberhard, Robinson, Peter N, Graul-Neumann, Luitgard M

“…We review six previous reports between 2000 and 2014 of seven unrelated patients with mutations in the FBN1 gene affecting function. All mutations occurred in…”
Get full text

Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome by Klopocki, Eva, Schulze, Harald, Strauß, Gabriele, Ott, Claus-Eric, Hall, Judith, Trotier, Fabienne, Fleischhauer, Silke, Greenhalgh, Lynn, Newbury-Ecob, Ruth A., Neumann, Luitgard M., Habenicht, Rolf, König, Rainer, Seemanova, Eva, Megarbane, André, Ropers, Hans-Hilger, Ullmann, Reinhard, Horn, Denise, Mundlos, Stefan

“…Thrombocytopenia–absent radius (TAR) syndrome is characterized by hypomegakaryocytic thrombocytopenia and bilateral radial aplasia in the presence of both…”
Get full text

DDX3X mutations in two girls with a phenotype overlapping Toriello–Carey syndrome by 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

“…Recently, de novo heterozygous variants in DDX3X have been reported in about 1.5% of 2659 females with previously unexplained intellectual disability (ID). We…”
Get full text

A Novel RAB33B Mutation in Smith-McCort Dysplasia by Dupuis, Nina, Lebon, Sophie, Kumar, Manoj, Drunat, Séverine, Graul-Neumann, Luitgard M., Gressens, Pierre, El Ghouzzi, Vincent

“…ABSTRACT Smith–McCort dysplasia (SMC) is a rare autosomal recessive spondylo‐epi‐metaphyseal dysplasia with skeletal features identical to those of…”
Get full text

A novel missense variant of SCN4A co‐segregates with congenital essential tremor in a consanguineous Kurdish family by Asif, Maria, Mocanu, Ionut Dragos, Abdullah, Uzma, Höhne, Wolfgang, Altmüller, Janine, Makhdoom, Ehtisham Ul Haq, Thiele, Holger, Baig, Shahid Mahmood, Nürnberg, Peter, Graul‐Neumann, Luitgard, Hussain, Muhammad Sajid

“…Essential tremor (ET) is a neurological disorder characterized by bilateral and symmetric postural, isometric, and kinetic tremors of forelimbs produced during…”
Get full text

Skeletal abnormalities are common features in Aymé‐Gripp syndrome by Niceta, Marcello, Barbuti, Domenico, Gupta, Neerja, Ruggiero, Carlos, Tizzano, Eduardo F., Graul‐Neumann, Luitgard, Barresi, Sabina, Nishimura, Gen, Valenzuela, Irene, López‐Grondona, Fermina, Fernandez‐Alvarez, Paula, Leoni, Chiara, Zweier, Christiane, Tzschach, Andreas, Stellacci, Emilia, Del Fattore, Andrea, Dallapiccola, Bruno, Zampino, Giuseppe, Tartaglia, Marco

“…Aymé‐Gripp syndrome (AYGRPS) is a recognizable condition caused by a restricted spectrum of dominantly acting missense mutations affecting the transcription…”
Get full text

Digital necroses and vascular thrombosis in severe spinal muscular atrophy by Rudnik‐Schöneborn, Sabine, Vogelgesang, Silke, Armbrust, Sven, Graul‐Neumann, Luitgard, Fusch, Christoph, Zerres, Klaus

“…Infantile spinal muscular atrophy (SMA) caused by homozygous SMN1 gene deletions/mutations is characterized by neuronal loss and axonopathy of motor neurons…”
Get full text

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

“…Jeune asphyxiating thoracic dystrophy (JATD) is a rare, often lethal, recessively inherited chondrodysplasia characterised by shortened ribs and long bones,…”
Get more information

Human laminin β2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities by Zenker, Martin, Aigner, Thomas, Wendler, Olaf, Tralau, Tim, Müntefering, Horst, Fenski, Regina, Pitz, Susanne, Schumacher, Valérie, Royer-Pokora, Brigitte, Wühl, Elke, Cochat, Pierre, Bouvier, Raymonde, Kraus, Cornelia, Mark, Karlheinz, Madlon, Henry, Dötsch, Jörg, Rascher, Wolfgang, Maruniak-Chudek, Iwona, Lennert, Thomas, Neumann, Luitgard M., Reis, André

“…Congenital nephrotic syndrome (CNS) is clinically and genetically heterogeneous, with mutations in WT1, NPHS1 and NPHS2 accounting for part of cases. We…”
Get full text

Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3′ terminus of the FBN1-gene by Graul-Neumann, Luitgard M., Kienitz, Tina, Robinson, Peter N., Baasanjav, Sevjidmaa, Karow, Benjamin, Gillessen-Kaesbach, Gabriele, Fahsold, Raimund, Schmidt, Hartmut, Hoffmann, Katrin, Passarge, Eberhard

“…We report on a 25‐year‐old woman with pronounced generalized lipodystrophy and a progeroid aspect since birth, who also had Marfan syndrome (MFS; fulfilling…”
Get full text

Genome sequencing in families with congenital limb malformations by Elsner, Jonas, Mensah, Martin A., Holtgrewe, Manuel, Hertzberg, Jakob, Bigoni, Stefania, Busche, Andreas, Coutelier, Marie, de Silva, Deepthi C., Elçioglu, Nursel, Filges, Isabel, Gerkes, Erica, Girisha, Katta M., Graul-Neumann, Luitgard, Jamsheer, Aleksander, Krawitz, Peter, Kurth, Ingo, Markus, Susanne, Megarbane, Andre, Reis, André, Reuter, Miriam S., Svoboda, Daniel, Teller, Christopher, Tuysuz, Beyhan, Türkmen, Seval, Wilson, Meredith, Woitschach, Rixa, Vater, Inga, Caliebe, Almuth, Hülsemann, Wiebke, Horn, Denise, Mundlos, Stefan, Spielmann, Malte

“…The extensive clinical and genetic heterogeneity of congenital limb malformation calls for comprehensive genome-wide analysis of genetic variation. Genome…”
Get full text

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

“…Adams-Oliver syndrome (AOS) is a rare disorder characterized by congenital limb defects and scalp cutis aplasia. In a proportion of cases, notable cardiac…”
Get full text

An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome by Boschann, Felix, Fischer-Zirnsak, Björn, Wienker, Thomas F., Holtgrewe, Manuel, Seelow, Dominik, Eichhorn, Birgit, Döhnert, Steffi, Fahsold, Raimund, Horn, Denise, Graul-Neumann, Luitgard M.

“…Cohen syndrome (CS) is a rare, autosomal recessive disorder characterized by intellectual disability, postnatal microcephaly, facial abnormalities, abnormal…”
Get full text

Clinical report of 8 patients with 49,XXXXY syndrome: Delineation of the facial gestalt and depiction of the clinical spectrum by 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

“…49,XXXXY syndrome is a rare sex chromosome aneuploidy syndrome. Cognitive impairment with expressive language deficits in combination with developmental and…”
Get full text

Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome by Graul-Neumann, Luitgard M., Mensah, Martin A., Klopocki, Eva, Uebe, Steffen, Ekici, Arif B., Thiel, Christian T., Reis, André, Zweier, Christiane

“…3MC syndrome is a rare autosomal recessive disorder with characteristic craniofacial dysmorphism and multiple anomalies. It is caused by biallelic mutations in…”
Get full text

Mutations in Microcephalin Cause Aberrant Regulation of Chromosome Condensation by Trimborn, Marc, Bell, Sandra M., Felix, Clive, Rashid, Yasmin, Jafri, Hussain, Griffiths, Paul D., Neumann, Luitgard M., Krebs, Alice, Reis, André, Sperling, Karl, Neitzel, Heidemarie, Jackson, Andrew P.

“…Microcephalin ( MCPH1) is a gene mutated in primary microcephaly, an autosomal recessive neurodevelopmental disorder in which there is a marked reduction in…”
Get full text

Females with de novo aberrations in PHF6: Clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome by Zweier, Christiane, Rittinger, Olaf, Bader, Ingrid, Berland, Siren, Cole, Trevor, Degenhardt, Franziska, Di Donato, Nataliya, Graul-Neumann, Luitgard, Hoyer, Juliane, Lynch, Sally Ann, Vlasak, Ingrid, Wieczorek, Dagmar

“…Recently, de novo aberrations in PHF6 were identified in females with intellectual disability and with a distinct phenotype including a characteristic facial…”
Get full text

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome by Zemojtel, Tomasz, Köhler, Sebastian, Mackenroth, Luisa, Jäger, Marten, Hecht, Jochen, Krawitz, Peter, Graul-Neumann, Luitgard, Doelken, Sandra, Ehmke, Nadja, Spielmann, Malte, Oien, Nancy Christine, Schweiger, Michal R, Krüger, Ulrike, Frommer, Götz, Fischer, Björn, Kornak, Uwe, Flöttmann, Ricarda, Ardeshirdavani, Amin, Moreau, Yves, Lewis, Suzanna E, Haendel, Melissa, Smedley, Damian, Horn, Denise, Mundlos, Stefan, Robinson, Peter N

“…Less than half of patients with suspected genetic disease receive a molecular diagnosis. We have therefore integrated next-generation sequencing (NGS),…”
Get more information

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

“…Objectives Till date, mutations in the genes PAX3 and MITF have been described in Waardenburg syndrome (WS), which is clinically characterised by congenital…”
Get full text

Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family by Graul-Neumann, Luitgard M., Klopocki, Eva, Adolphs, Nicolai, Mensah, Martin A., Kress, Wolfram

“…Crouzon syndrome craniofacial dysostosis type I [OMIM 123500] is caused by mutations in the gene encoding fibroblast growth factor receptor-2 (FGFR2). An…”
Get full text