Search Results - "Nunes, Mark E."

Genetic evaluation of suspected osteogenesis imperfecta (OI) by Byers, Peter H, Krakow, Deborah, Nunes, Mark E, Pepin, Melanie

“…Osteogenesis imperfecta (OI) is probably the most common genetic form of fracture predisposition. The term OI encompasses a broad range of clinical…”
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Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa by Kishnani, Priya S., Rush, Eric T., Arundel, Paul, Bishop, Nick, Dahir, Kathryn, Fraser, William, Harmatz, Paul, Linglart, Agnès, Munns, Craig F., Nunes, Mark E., Saal, Howard M., Seefried, Lothar, Ozono, Keiichi

“…Hypophosphatasia (HPP) is a rare, inherited, systemic, metabolic disorder caused by autosomal recessive mutations or a single dominant-negative mutation in the…”
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Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults by Khan, Aliya A., Brandi, Maria Luisa, Rush, Eric T., Ali, Dalal S., Al-Alwani, Hatim, Almonaei, Khulod, Alsarraf, Farah, Bacrot, Severine, Dahir, Kathryn M., Dandurand, Karel, Deal, Chad, Ferrari, Serge Livio, Giusti, Francesca, Guyatt, Gordon, Hatcher, Erin, Ing, Steven W., Javaid, Muhammad Kassim, Khan, Sarah, Kocijan, Roland, Linglart, Agnes, M’Hiri, Iman, Marini, Francesca, Nunes, Mark E., Rockman-Greenberg, Cheryl, Roux, Christian, Seefried, Lothar, Simmons, Jill H., Starling, Susan R., Ward, Leanne M., Yao, Liang, Brignardello-Petersen, Romina, Lewiecki, E. Michael

“…Background This manuscript provides a summary of the current evidence to support the criteria for diagnosing a child or adult with hypophosphatasia (HPP). The…”
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DNM1 encephalopathy: A new disease of vesicle fission by von Spiczak, Sarah, Helbig, Katherine L, Shinde, Deepali N, Huether, Robert, Pendziwiat, Manuela, Lourenço, Charles, Nunes, Mark E, Sarco, Dean P, Kaplan, Richard A, Dlugos, Dennis J, Kirsch, Heidi, Slavotinek, Anne, Cilio, Maria R, Cervenka, Mackenzie C, Cohen, Julie S, McClellan, Rebecca, Fatemi, Ali, Yuen, Amy, Sagawa, Yoshimi, Littlejohn, Rebecca, McLean, Scott D, Hernandez-Hernandez, Laura, Maher, Bridget, Møller, Rikke S, Palmer, Elizabeth, Lawson, John A, Campbell, Colleen A, Joshi, Charuta N, Kolbe, Diana L, Hollingsworth, Georgie, Neubauer, Bernd A, Muhle, Hiltrud, Stephani, Ulrich, Scheffer, Ingrid E, Pena, Sérgio D.J, Sisodiya, Sanjay M, Helbig, Ingo

“…OBJECTIVE:To evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible…”
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The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature Surveillance by Brandi, Maria Luisa, Khan, Aliya A., Rush, Eric T., Ali, Dalal S., Al-Alwani, Hatim, Almonaei, Khulod, Alsarraf, Farah, Bacrot, Severine, Dahir, Kathryn M., Dandurand, Karel, Deal, Chad, Ferrari, Serge Livio, Giusti, Francesca, Guyatt, Gordon, Hatcher, Erin, Ing, Steven W., Javaid, Muhammad Kassim, Khan, Sarah, Kocijan, Roland, Lewiecki, E. Michael, Linglart, Agnes, M’Hiri, Iman, Marini, Francesca, Nunes, Mark E., Rockman-Greenberg, Cheryl, Seefried, Lothar, Simmons, Jill H., Starling, Susan R., Ward, Leanne M., Yao, Liang, Brignardello-Petersen, Romina, Roux, Christian

“…Hypophosphatasia (HPP) is an inborn error of metabolism caused by reduced or absent activity of the tissue non-specific alkaline phosphatase (TNSALP) enzyme,…”
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Applying data science methodologies with artificial intelligence variant reinterpretation to map and estimate genetic disorder prevalence utilizing clinical data by Jackson, Suellen, Freeman, Rebecca, Noronha, Adriana, Jamil, Hafsah, Chavez, Eric, Carmichael, Jason, Ruiz, Kaylee M., Miller, Christine, Benke, Sarah, Perrot, Rosalie, Hockley, Maryam, Murphy, Kady, Casillan, Aimiel, Radanovich, Lily, Deforest, Roger, Nunes, Mark E., Galarreta‐Aima, Carolina, Sidlow, Richard, Einhorn, Yaron, Woods, Jeremy

“…Data science methodologies can be utilized to ascertain and analyze clinical genetic data that is often unstructured and rarely used outside of patient…”
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Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group by Rush, Eric, Brandi, Maria Luisa, Khan, Aliya, Ali, Dalal S., Al-Alwani, Hatim, Almonaei, Khulod, Alsarraf, Farah, Bacrot, Severine, Dahir, Kathryn M., Dandurand, Karel, Deal, Chad, Ferrari, Serge Livio, Giusti, Francesca, Guyatt, Gordon, Hatcher, Erin, Ing, Steven W., Javaid, Muhammad Kassim, Khan, Sarah, Kocijan, Roland, Lewiecki, E. Michael, Linglart, Agnes, M’Hiri, Iman, Marini, Francesca, Nunes, Mark E., Rockman-Greenberg, Cheryl, Roux, Christian, Seefried, Lothar, Starling, Susan R., Ward, Leanne, Yao, Liang, Brignardello-Petersen, Romina, Simmons, Jill H.

“…Hypophosphatasia (HPP) is a rare inborn error of metabolism that presents variably in both age of onset and severity. HPP is caused by pathogenic variants in…”
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Correction: Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults by Khan, Aliya A., Brandi, Maria Luisa, Rush, Eric T., Ali, Dalal S., Al-Alwani, Hatim, Almonaei, Khulod, Alsarraf, Farah, Bacrot, Severine, Dahir, Kathryn M., Dandurand, Karel, Deal, Chad, Ferrari, Serge Livio, Giusti, Francesca, Guyatt, Gordon, Hatcher, Erin, Ing, Steven W., Javaid, Muhammad Kassim, Khan, Sarah, Kocijan, Roland, Linglart, Agnes, M’Hiri, Iman, Marini, Francesca, Nunes, Mark E., Rockman-Greenberg, Cheryl, Roux, Christian, Seefried, Lothar, Simmons, Jill H., Starling, Susan R., Ward, Leanne M., Yao, Liang, Brignardello-Petersen, Romina, Michael Lewiecki, E.

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Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases by Farwell Hagman, Kelly D., Shinde, Deepali N., Mroske, Cameron, Smith, Erica, Radtke, Kelly, Shahmirzadi, Layla, El-Khechen, Dima, Powis, Zöe, Chao, Elizabeth C., Alcaraz, Wendy A., Helbig, Katherine L., Sajan, Samin A., Rossi, Mari, Lu, Hsiao-Mei, Huether, Robert, Li, Shuwei, Wu, Sitao, Nuñes, Mark E., Tang, Sha

“…Diagnostic exome sequencing (DES) is now a commonly ordered test for individuals with undiagnosed genetic disorders. In addition to providing a diagnosis for…”
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Improved Prenatal Detection of Congenital Heart Disease in an Integrated Health Care System by Levy, Denis J., Pretorius, Dolores H., Rothman, Abraham, Gonzales, Marcos, Rao, Cherie, Nunes, Mark E., Bendelstein, Julian, Mehalek, Karen, Thomas, Amy, Nehlsen, Candace, Ehr, Jessica, Burchette, Raoul J., Sklansky, Mark S.

“…The reported prenatal detection rates (PDRs) for significant congenital heart disease (sCHD) have been suboptimal, even in the current era. Changes in prenatal…”
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Desmopressin responsiveness in children with Ehlers‐Danlos syndrome associated bleeding symptoms by Mast, Kelley J., Nunes, Mark E., Ruymann, Frederick B., Kerlin, Bryce A.

“…Summary Ehlers‐Danlos Syndrome (EDS) is caused by heritable collagen defects and may be associated with bleeding symptoms. Desmopressin has been described in…”
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Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia by Brun-Heath, Isabelle, Lia-Baldini, Anne-Sophie, Maillard, Stéphane, Taillandier, Agnès, Utsch, Boris, Nunes, Mark E, Serre, Jean-Louis, Mornet, Etienne

“…Abstract Hypophosphatasia is a rare genetic disease characterized by diminished bone and tooth mineralization due to deficient activity of tissue-nonspecific…”
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Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases by Farwell Hagman, Kelly D, Shinde, Deepali N, Mroske, Cameron, Smith, Erica, Radtke, Kelly, Shahmirzadi, Layla, El-Khechen, Dima, Powis, Zöe, Chao, Elizabeth C, Alcaraz, Wendy A, Helbig, Katherine L, Sajan, Samin A, Rossi, Mari, Lu, Hsiao-Mei, Huether, Robert, Li, Shuwei, Wu, Sitao, Nuñes, Mark E, Tang, Sha

“…In the published version of this paper, some of the columns in the last three rows of Table 3 were mistakenly transposed. The corrected table appears below. In…”
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Guidelines for evaluation of patients at risk for inherited breast and ovarian cancer: Recommendations of the department of defense familial breast/ovarian cancer research project by FRIES, Melissa H, HOLT, Charlene, HUDSON, Gracia, CADMAN, Mary, WEATHERLY, Ronald, NUNES, Mark E, CARPENTER, Isabelle, CARTER, Cindy L, DANIELS, Jamelyn, FLANAGAN, Judith, MURPHY, Kay, HAILEY, B. Jo, MARTIN, Laura, HUME, Roderick

“…Patients at high risk for inherited breast and/or ovarian cancer are frequently encountered in all medical specialties. Department of Defense, Health Affairs…”
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Diagnostic criteria for testing for BRCA1 and BRCA2: The experience of the Department of Defense Familial Breast/Ovarian Cancer Research Project by FRIES, Melissa H, HOLT, Charlene, HUDSON, Gracia, CADMAN, Mary, WEATHERLY, Ronald, NUNES, Mark E, CARPENTER, Isabelle, CARTER, Cindy L, DANIELS, Jamelyn, FLANAGAN, Judith, MURPHY, Kay, HAILEY, B. Jo, MARTIN, Laura, HUME, Roderick

“…The Department of Defense Familial Breast/Ovarian Cancer Research Project has offered genetic counseling and testing for BRCA1 and BRCA2 on a research basis to…”
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A second autosomal split hand/split foot locus maps to chromosome 10q24-q25 by Nunes, M E, Schutt, G, Kapur, R P, Luthardt, F, Kukolich, M, Byers, P, Evans, J P

“…Ectrodactyly (split hand/split foot malformation, SHSF) is a human limb malformation characterized by absent central digital rays, deep median cleft, and…”
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Pathogenesis of ectrodactyly in theDactylaplasia mouse: Aberrant cell death of the apical ectodermal ridge by Seto, Marianne L., Nunes, Mark E., Macarthur, Craig A., Cunningham, Michael L.

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A split hand-split foot (SHFM3) gene is located at 10Q24→25 by Tsipouras, Petros, Gurrieri, Fiorella, Prinos, Panagiotis, Tackels, Darci, Kilpatrick, Michael W., Allanson, Judith, Genuardi, Maurizio, Vuckov, Ana, Nanni, Luigia, Sangiorgi, Eugenio, Garofalo, Giovanna, Nunes, Mark E., Neri, Giovanni, Schwartz, Charles

“…The split hand‐split foot (SHSF) malformation affects the central rays of the upper and lower limbs. It presents either as an isolated defect or in association…”
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Pathogenesis of ectrodactyly in the Dactylaplasia mouse: Aberrant cell death of the apical ectodermal ridge by Seto, Marianne L., Nunes, Mark E., Macarthur, Craig A., Cunningham, Michael L.

“…Dactylaplasia, or Dac, was recently mapped to the distal portion of mouse chromosome 19 and shown to be inherited as an autosomal semi‐dominant trait…”
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