Search Results - "Opitz, M."

Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions by Lupiáñez, Darío G., Kraft, Katerina, Heinrich, Verena, Krawitz, Peter, Brancati, Francesco, Klopocki, Eva, Horn, Denise, Kayserili, Hülya, Opitz, John M., Laxova, Renata, Santos-Simarro, Fernando, Gilbert-Dussardier, Brigitte, Wittler, Lars, Borschiwer, Marina, Haas, Stefan A., Osterwalder, Marco, Franke, Martin, Timmermann, Bernd, Hecht, Jochen, Spielmann, Malte, Visel, Axel, Mundlos, Stefan

“…Mammalian genomes are organized into megabase-scale topologically associated domains (TADs). We demonstrate that disruption of TADs can rewire long-range…”
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Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome by Pierce, Sarah B, Chisholm, Karen M, Lynch, Eric D, Lee, Ming K, Walsh, Tom, Opitz, John M, Li, Weiqing, Klevit, Rachel E, King, Mary-Claire

“…Perrault syndrome is a genetically heterogeneous recessive disorder characterized by ovarian dysgenesis and sensorineural hearing loss. In a nonconsanguineous…”
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Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome by Pierce, Sarah B., Walsh, Tom, Chisholm, Karen M., Lee, Ming K., Thornton, Anne M., Fiumara, Agata, Opitz, John M., Levy-Lahad, Ephrat, Klevit, Rachel E., King, Mary-Claire

“…Perrault syndrome is a recessive disorder characterized by ovarian dysgenesis in females, sensorineural deafness in both males and females, and in some…”
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Obesity: Genetic, molecular, and environmental aspects by Barness, Lewis A., Opitz, John M., Gilbert-Barness, Enid

“…Obesity has emerged as one of the most serious public health concerns in the 21st century. Obese children tend to become obese adults. The dramatic rise in…”
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Elements of morphology: General terms for congenital anomalies by Hennekam, Raoul C., Biesecker, Leslie G., Allanson, Judith E., Hall, Judith G., Opitz, John M., Temple, I Karen, Carey, John C.

“…An international group of clinicians working in the field of dysmorphology has established a process for the standardization of terms used to describe human…”
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Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility by Astuti, Dewi, Morris, Mark R, Cooper, Wendy N, Staals, Raymond H J, Wake, Naomi C, Fews, Graham A, Gill, Harmeet, Gentle, Dean, Shuib, Salwati, Ricketts, Christopher J, Cole, Trevor, van Essen, Anthonie J, van Lingen, Richard A, Neri, Giovanni, Opitz, John M, Rump, Patrick, Stolte-Dijkstra, Irene, Müller, Ferenc, Pruijn, Ger J M, Latif, Farida, Maher, Eamonn R

“…Eamonn Maher and colleagues report germline mutations in DIS3L2 causing the Perlman syndrome of overgrowth and susceptibility to Wilms tumor. DIS3L2 encodes a…”
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Importance of the biofilm matrix for the erosion stability of Bacillus subtilis NCIB 3610 biofilms by Klotz, M, Kretschmer, M, Goetz, A, Ezendam, S, Lieleg, O, Opitz, M

“…Production and secretion of biomolecules can provide new emergent functionalities to the synthesizing organism. In particular, the secretion of extracellular…”
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Selected metal ions protect Bacillus subtilis biofilms from erosion by Grumbein, S, Opitz, M, Lieleg, O

“…Many problems caused by bacterial biofilms can be traced back to their high resilience towards chemical perturbations and their extraordinary sturdiness…”
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Pharmacological HIF-inhibition attenuates postoperative adhesion formation by Strowitzki, Moritz J., Ritter, Alina S., Radhakrishnan, Praveen, Harnoss, Jonathan M., Opitz, Vanessa M., Biller, Marvin, Wehrmann, Julian, Keppler, Ulrich, Scheer, Jana, Wallwiener, Markus, Schmidt, Thomas, Ulrich, Alexis, Schneider, Martin

“…Peritoneal adhesions represent a common complication of abdominal surgery, and tissue hypoxia is a main determinant in adhesion formation. Reliable therapeutic…”
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An evolutionary and developmental biology approach to gastroschisis by Opitz, John M., Feldkamp, Marcia L., Botto, Lorenzo D.

“…Recent advances have now made it possible to speak of gastroschisis narrowly in morphogenetic terms invoking the Rittler–Beaudoin (R–B) model. This proceeds…”
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2011 William Allan Award: Development and Evolution by Opitz, John M.

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The cardiofaciocutaneous syndrome by Roberts, A, Allanson, J, Jadico, S K, Kavamura, M I, Noonan, J, Opitz, J M, Young, T, Neri, G

“…The cardiofaciocutaneous (CFC) syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. It…”
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A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome by Friez, Michael J, Risheg, Hiba, Graham, John M, Clark, Robin D, Rogers, R Curtis, Opitz, John M, Moeschler, John B, Peiffer, Andreas P, May, Melanie, Joseph, Sumy M, Jones, Julie R, Stevenson, Roger E, Schwartz, Charles E

“…Opitz-Kaveggia syndrome (also known as FG syndrome) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and…”
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Carbohydrate coating reduces adhesion of biofilm-forming Bacillus subtilis to gold surfaces by Kesel, S, Mader, A, Seeberger, P H, Lieleg, O, Opitz, M

“…The growth of bacterial biofilms in pipes and food tanks causes severe problems in industry. Biofilms growing on medical implants or catheters are of great…”
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Santos syndrome is caused by mutation in the WNT7A gene by Alves, Leandro U, Santos, Silvana, Musso, Camila M, Ezquina, Suzana Am, Opitz, John M, Kok, Fernando, Otto, Paulo A, Mingroni-Netto, Regina C

“…We have recently described a family with a condition (Santos syndrome (SS; MIM 613005)) characterized by fibular agenesis/hypoplasia, hypoplastic femora and…”
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Inhibition of HIF-prolyl hydroxylases improves healing of intestinal anastomoses by Strowitzki, Moritz J, Kimmer, Gwendolyn, Wehrmann, Julian, Ritter, Alina S, Radhakrishnan, Praveen, Opitz, Vanessa M, Tuffs, Christopher, Biller, Marvin, Kugler, Julia, Keppler, Ulrich, Harnoss, Jonathan M, Klose, Johannes, Schmidt, Thomas, Blanco, Alfonso, Taylor, Cormac T, Schneider, Martin

“…Anastomotic leakage (AL) accounts for a major part of in-house mortality in patients undergoing colorectal surgery. Local ischemia and abdominal sepsis are…”
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A de novo splice site mutation in CASK causes FG syndrome‐4 and congenital nystagmus by Dunn, P., Prigatano, G. P., Szelinger, S., Roth, J., Siniard, A. L., Claasen, A. M., Richholt, R. F., De Both, M., Corneveaux, J. J., Moskowitz, A. M., Balak, C., Piras, I. S., Russell, M., Courtright, A. L., Belnap, N., Rangasamy, S., Ramsey, K., Opitz, J. M., Craig, D. W., Narayanan, V., Huentelman, M. J., Schrauwen, I.

“…Mutations in CASK cause X‐linked intellectual disability, microcephaly with pontine and cerebellar hypoplasia, optic atrophy, nystagmus, feeding difficulties,…”
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Living history biography: An afterthought by Opitz, John M.

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Resynthesizing Evolutionary and Developmental Biology by Gilbert, Scott F., Opitz, John M., Raff, Rudolf A.

“…A new and more robust evolutionary synthesis is emerging that attempts to explain macroevolution as well as microevolutionary events. This new synthesis…”
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Molecular Inversion Probe Array for the Genetic Evaluation of Stillbirth Using Formalin-Fixed, Paraffin-Embedded Tissue by Rowe, Leslie R, Thaker, Harshwardhan M, Opitz, John. M, Schiffman, Joshua D, Haddadin, Zaid M, Erickson, Lance K, South, Sarah T

“…Array comparative hybridization has been used successfully to identify genomic alterations in stillbirth material; however, high DNA quantity and quality…”
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