Search Results - "Neuhann, Teresa M"

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia by Latham, Sharissa L., Ehmke, Nadja, Reinke, Patrick Y. A., Taft, Manuel H., Eicke, Dorothee, Reindl, Theresia, Stenzel, Werner, Lyons, Michael J., Friez, Michael J., Lee, Jennifer A., Hecker, Ramona, Frühwald, Michael C., Becker, Kerstin, Neuhann, Teresa M., Horn, Denise, Schrock, Evelin, Niehaus, Indra, Sarnow, Katharina, Grützmann, Konrad, Gawehn, Luzie, Klink, Barbara, Rump, Andreas, Chaponnier, Christine, Figueiredo, Constanca, Knöfler, Ralf, Manstein, Dietmar J., Di Donato, Nataliya

“…Germline mutations in the ubiquitously expressed ACTB , which encodes β-cytoplasmic actin (CYA), are almost exclusively associated with Baraitser-Winter…”
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Highly sensitive liquid biopsy Duplex sequencing complements tissue biopsy to enhance detection of clinically relevant genetic variants by Hallermayr, Ariane, Neuhann, Teresa M, Steinke-Lange, Verena, Scharf, Florentine, Laner, Andreas, Ewald, Roland, Liesfeld, Ben, Holinski-Feder, Elke, Pickl, Julia M A

“…Liquid biopsy (LB) is a promising complement to tissue biopsy for detection of clinically relevant genetic variants in cancer and mosaic diseases. A combined…”
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Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories by Witzel, Maximilian G W, Gebhard, Christian, Wenzel, Sören, Kleier, Saskia, Eichhorn, Birgit, Lorenz, Peter, von der Heyden, Laura, Kuhn, Marius, Luedeke, Manuel, Döcker, Miriam, Jüngling, Jerome, Schulte, Björn, Hörtnagel, Konstanze, Glaubitz, Ralf, Knippenberger, Sarah, Teubert, Anna, Abicht, Angela, Neuhann, Teresa M

“…Epilepsy is one of the most common and disabling neurological disorders. It is highly prevalent in children with neurodevelopmental delay and syndromic…”
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Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia by Latham, Sharissa L., Ehmke, Nadja, Reinke, Patrick Y. A., Taft, Manuel H., Eicke, Dorothee, Reindl, Theresia, Stenzel, Werner, Lyons, Michael J., Friez, Michael J., Lee, Jennifer A., Hecker, Ramona, Frühwald, Michael C., Becker, Kerstin, Neuhann, Teresa M., Horn, Denise, Schrock, Evelin, Niehaus, Indra, Sarnow, Katharina, Grützmann, Konrad, Gawehn, Luzie, Klink, Barbara, Rump, Andreas, Chaponnier, Christine, Figueiredo, Constanca, Knöfler, Ralf, Manstein, Dietmar J., Di Donato, Nataliya

“…The original version of this Article contained an error in Figure 4. In panel i, the lower CYA and α-SMA images were inadvertently inverted. This has been…”
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A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa by Al-Bughaili, Mohammed, Neuhann, Teresa M, Flöttmann, Ricarda, Mundlos, Stefan, Spielmann, Malte, Kornak, Uwe, Fischer-Zirnsak, Björn

“…Gerodermia osteodysplastica is a recessive segmental progeroid disorder mainly characterized by wrinkled skin, generalized connective tissue weakness,…”
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Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancer by Kast, Karin, Neuhann, Teresa M, Görgens, Heike, Becker, Kerstin, Keller, Katja, Klink, Barbara, Aust, Daniela, Distler, Wolfgang, Schröck, Evelin, Schackert, Hans K

“…Hereditary Breast and Ovarian Cancer Syndrome (HBOCS) and Hereditary Non-Polyposis Colorectal Cancer Syndrome (HNPCC, Lynch Syndrome) are two tumor…”
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Macrocerebellum: Significance and Pathogenic Considerations by Poretti, Andrea, Mall, Volker, Smitka, Martin, Grunt, Sebastian, Risen, Sarah, Toelle, Sandra P., Benson, Jane E., Yoshida, Shoko, Jung, Nikolai H., Tinschert, Sigrid, Neuhann, Teresa M., Rauch, Anita, Steinlin, Maja, Meoded, Avner, Huisman, Thierry A. G. M., Boltshauser, Eugen

“…Macrocerebellum is a rare finding characterized by an abnormally large cerebellum. Only few patients with a syndromal or isolated macrocerebellum have been…”
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Long-term chemoprevention in patients with adenomatous polyposis coli: an observational study by Neuhann, Teresa M., Haub, Katharina, Steinke-Lange, Verena, Morak, Monika, Laner, Andreas, Locher, Melanie, Holinski-Feder, Elke

“…Prospective short-term studies on effectiveness of non-steroidal anti-inflammatory drugs (NSAIDs) point towards a decrease in the number and size of polyps…”
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Case Report: DPM1-CDG: Novel Variant with Severe Phenotype and Literature Review by Lausmann, Hanna, Zacharias, Martin, Neuhann, Teresa M., Locher, Melanie K., Schettler, Karl F.

“…Background: Congenital disorders of glycosylation (CDG) type I include variants in the DPM1 gene leading to DPM1-CDG. The nine previously reported patients…”
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Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria by Ravenscroft, Gianina, Di Donato, Nataliya, Hahn, Gabriele, Davis, Mark R, Craven, Paul D, Poke, Gemma, Neas, Katherine R, Neuhann, Teresa M, Dobyns, William B, Laing, Nigel G

“…Highlights • Arthrogryposis multiplex congenita due to a recurrent de novo BICD2 mutation • Extends phenotypic spectrum of BICD2 disease • Not dissimilar to…”
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Impact of cfDNA Reference Materials on Clinical Performance of Liquid Biopsy NGS Assays by Hallermayr, Ariane, Keßler, Thomas, Fujera, Moritz, Liesfeld, Ben, Bernstein, Samuel, von Ameln, Simon, Schanze, Denny, Steinke-Lange, Verena, Pickl, Julia M. A, Neuhann, Teresa M, Holinski-Feder, Elke

“…Background: Liquid biopsy enables the non-invasive analysis of genetic tumor variants in circulating free DNA (cfDNA) in plasma. Accurate analytical validation…”
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ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description by Neuhann, Teresa M., Stegerer, Annette, Riess, Angelika, Blair, Edward, Martin, Thomas, Wieser, Stefanie, Kläs, Rüdiger, Bouman, Arjan, Kuechler, Alma, Rittinger, Olaf

“…ADAMTSL4 mutations seem to be the most common cause of isolated ectoplia lentis (EL) and thus are important concerning the differential diagnosis of connective…”
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A Novel Germline KIT Mutation (p.L576P) in a Family Presenting With Juvenile Onset of Multiple Gastrointestinal Stromal Tumors, Skin Hyperpigmentations, and Esophageal Stenosis by Neuhann, Teresa M, Mansmann, Veit, Merkelbach-Bruse, Sabine, Klink, Barbara, Hellinger, Achim, Höffkes, Heinz-Gert, Wardelmann, Eva, Schildhaus, Hans-Ulrich, Tinschert, Sigrid

“…Familial gastrointestinal stromal tumor (GIST) syndrome is a rare autosomal dominant genetic disorder. We report on a kindred in which 3 family members carry a…”
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Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency by Fasham, James, Lin, Siying, Ghosh, Promita, Radio, Francesca Clementina, Farrow, Emily G., Thiffault, Isabelle, Kussman, Jennifer, Zhou, Dihong, Hemming, Rick, Zahka, Kenneth, Chioza, Barry A., Rawlins, Lettie E., Wenger, Olivia K., Gunning, Adam C., Pizzi, Simone, Onesimo, Roberta, Zampino, Giuseppe, Barker, Emily, Osawa, Natasha, Rodriguez, Megan Christine, Neuhann, Teresa M., Zackai, Elaine H., Keena, Beth, Capasso, Jenina, Levin, Alex V., Bhoj, Elizabeth, Li, Dong, Hakonarson, Hakon, Wentzensen, Ingrid M., Jackson, Adam, Chandler, Kate E., Coban-Akdemir, Zeynep H., Posey, Jennifer E., Banka, Siddharth, Lupski, James R., Sheppard, Sarah E., Tartaglia, Marco, Triggs-Raine, Barbara, Crosby, Andrew H., Baple, Emma L.

“…We previously defined biallelic HYAL2 variants causing a novel disorder in 2 families, involving orofacial clefting, facial dysmorphism, congenital heart…”
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A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation by Neuhann, Teresa M, Artelt, Juliane, Neuhann, Thomas F, Tinschert, Sigrid, Rump, Andreas

“…The purpose of the study was to look for ADAMTSL4 mutations in a cohort of German patients with isolated ectopia lentis from nonconsanguineous families…”
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Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia by Endris, Volker, Hackmann, Karl, Neuhann, Teresa M., Grasshoff, Ute, Bonin, Michael, Haug, Ulrich, Hahn, Gabriele, Schallner, Jens C., Schröck, Evelin, Tinschert, Sigrid, Rappold, Gudrun, Moog, Ute

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Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disorders by Ruault, Valentin, Burger, Pauline, Gradels‐Hauguel, Johanna, Ruiz, Nathalie, Jamra, Rami Abou, Afenjar, Alexandra, Alembik, Yves, Alessandri, Jean‐Luc, Arpin, Stéphanie, Barcia, Giulia, Bendová, Šárka, Bruel, Ange‐Line, Charles, Perrine, Chatron, Nicolas, Chopra, Maya, Conrad, Solène, Daire, Valérie Cormier, Cospain, Auriane, Coubes, Christine, Coursimault, Juliette, Delahaye‐Duriez, Andrée, Doco, Martine, Dufour, William, Durand, Benjamin, Engel, Camille, Faivre, Laurence, Ferroul, Fanny, Fradin, Mélanie, Frenkiel, Hélène, Fusco, Carlo, Garavelli, Livia, Garde, Aurore, Gerard, Bénédicte, Germanaud, David, Goujon, Louise, Gouronc, Aurélie, Ginglinger, Emmanuelle, Goldenberg, Alice, Hancarova, Miroslava, Havlovicová, Markéta, Heron, Delphine, Isidor, Bertrand, Marçais, Nolwenn Jean, Keren, Boris, Koch‐Hogrebe, Margarete, Kuentz, Paul, Lamure, Victoria, Lebre, Anne‐Sophie, Lecoquierre, François, Lehman, Natacha, Lesca, Gaetan, Lyonnet, Stanislas, Martin, Delphine, Mignot, Cyril, Neuhann, Teresa M., Nicolas, Gaël, Nizon, Mathilde, Petit, Florence, Philippe, Christophe, Piton, Amélie, Pollazzon, Marzia, Prchalová, Darina, Putoux, Audrey, Rio, Marlène, Rondeau, Sophie, Rossi, Massimiliano, Sabbagh, Quentin, Saugier‐Veber, Pascale, Schmetz, Ariane, Steffann, Julie, Thauvin‐Robinet, Christel, Toutain, Annick, Them, Frederic Tran Mau, Trimarchi, Gabriele, Vincent, Marie, Vlčková, Markéta, Wieczorek, Dagmar, Willems, Marjolaine, Yauy, Kevin, Zelinová, Michaela, Ziegler, Alban, Chaumette, Boris, Sadikovic, Bekim, Mandel, Jean‐Louis, Geneviève, David

“…Introduction and Methods We report two series of individuals with DDX3X variations, one (48 individuals) from physicians and one (44 individuals) from…”
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The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: Is it really a reversed sotos syndrome? by Dikow, Nicola, Maas, Bianca, Gaspar, Harald, Kreiss-Nachtsheim, Martina, Engels, Hartmut, Kuechler, Alma, Garbes, Lutz, Netzer, Christian, Neuhann, Teresa M., Koehler, Udo, Casteels, Kristina, Devriendt, Koen, Janssen, Johannes W.G., Jauch, Anna, Hinderhofer, Katrin, Moog, Ute

“…Loss‐of‐function mutations of NSD1 and 5q35 microdeletions encompassing NSD1 are a major cause of Sotos syndrome (Sos), which is characterized by overgrowth,…”
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Generalized epilepsy in two patients with 5p duplication by Kluger, Gerhard, Koehler, Udo, Neuhann, Teresa M, Pieper, Tom, Staudt, Martin, von Stülpnagel, Celina

“…There are only few reports on patients with duplications of the short arm of chromosome 5, with little information about concomitant epilepsy. We report on two…”
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Phenotypic and Genetic Spectrum in 309 Consecutive Pediatric Patients with Inherited Retinal Disease by Priglinger, Claudia S., Gerhardt, Maximilian J., Priglinger, Siegfried G., Schaumberger, Markus, Neuhann, Teresa M., Bolz, Hanno J., Mehraein, Yasmin, Rudolph, Guenther

“…Inherited retinal dystrophies (IRDs) are a common cause of blindness or severe visual impairment in children and may occur with or without systemic…”
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