Search Results - "Haagmans, Martin A"

Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome by Alders, Mariëlle, Al-Gazali, Lihadh, Cordeiro, Isabelle, Dallapiccola, Bruno, Garavelli, Livia, Tuysuz, Beyhan, Salehi, Faranak, Haagmans, Martin A., Mook, Olaf R., Majoie, Charles B., Mannens, Marcel M., Hennekam, Raoul C.

“…The Hennekam lymphangiectasia–lymphedema syndrome is a genetically heterogeneous disorder. It can be caused by mutations in CCBE1 which are found in…”
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A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome by Chatzispyrou, Iliana A, Alders, Marielle, Guerrero-Castillo, Sergio, Zapata Perez, Ruben, Haagmans, Martin A, Mouchiroud, Laurent, Koster, Janet, Ofman, Rob, Baas, Frank, Waterham, Hans R, Spelbrink, Johannes N, Auwerx, Johan, Mannens, Marcel M, Houtkooper, Riekelt H, Plomp, Astrid S

“…Perrault syndrome (PS) is a rare recessive disorder characterized by ovarian dysgenesis and sensorineural deafness. It is clinically and genetically…”
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Exploring nanopore direct sequencing performance of forensic STRs, SNPs, InDels, and DNA methylation markers in a single assay by de Bruin, Desiree D.S.H., Haagmans, Martin A., van der Gaag, Kristiaan J., Hoogenboom, Jerry, Weiler, Natalie E.C., Tesi, Niccoló, Salazar, Alex, Zhang, Yaran, Holstege, Henne, Reinders, Marcel, M’charek, Amade Aouatef, Sijen, Titia, Henneman, Peter

“…The field of forensic DNA analysis has undergone rapid advancements in recent decades. The integration of massively parallel sequencing (MPS) has notably…”
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Correction for van der Putten et al., “Five Complete Genome Sequences Spanning the Dutch Streptococcus suis Serotype 2 and Serotype 9 Populations” by van der Putten, Boas C. L., Roodsant, Thomas J., Haagmans, Martin A., Schultsz, Constance, van der Ark, Kees C. H.

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A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome by Chatzispyrou, Iliana A., Alders, Marielle, Guerrero-Castillo, Sergio, Zapata Perez, Ruben, Haagmans, Martin A., Mouchiroud, Laurent, Koster, Janet, Ofman, Rob, Baas, Frank, Waterham, Hans R., Spelbrink, Johannes N., Auwerx, Johan, Mannens, Marcel M., Houtkooper, Riekelt H., Plomp, Astrid S.

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Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics by Mook, Olaf R F, Haagmans, Martin A, Soucy, Jean-François, van de Meerakker, Judith B A, Baas, Frank, Jakobs, Marja E, Hofman, Nynke, Christiaans, Imke, Lekanne Deprez, Ronald H, Mannens, Marcel M A M

“…Genetic evaluation of cardiomyopathies poses a challenge. Multiple genes are involved but no clear genotype-phenotype correlations have been found so far. In…”
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RELN rare variants in myoclonus-dystonia by Groen, Justus L., Ritz, Katja, Jalalzadeh, Hamid, van der Salm, Sandra M.A., Jongejan, Aldo, Mook, Olaf R., Haagmans, Martin A., Zwinderman, Aeilko H., Motazacker, Mahdi M., Hennekam, Raoul C., Baas, Frank, Tijssen, Marina A.J.

“…Background Myoclonus‐dystonia (M‐D) is a hyperkinetic movement disorder with predominant myoclonic symptoms combined with dystonia of the upper part of the…”
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Five Complete Genome Sequences Spanning the Dutch Streptococcus suis Serotype 2 and Serotype 9 Populations by van der Putten, Boas C L, Roodsant, Thomas J, Haagmans, Martin A, Schultsz, Constance, van der Ark, Kees C H

“…The zoonotic pathogen can cause septicemia and meningitis in humans. We report five complete genomes of serotype 2 and serotype 9, covering the complete…”
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