检索结果 - Puffenberger, Erik

One Community’s Effort to Control Genetic Disease 由 Strauss, Kevin A., Puffenberger, Erik G., Morton, D. Holmes

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Elevated Frequency and Allelic Heterogeneity of Congenital Nephrotic Syndrome, Finnish Type, in the Old Order Mennonites 由 Bolk, Stacey, Puffenberger, Erik G., Hudson, Jim, Morton, D. Holmes, Chakravarti, Aravinda

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Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania 由 Crowgey, Erin L., Washburn, Michael C., Kolb, E. Anders, Puffenberger, Erik G.

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Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation 由 Xin, Baozhong, Puffenberger, Erik G., Turben, Susan, Tan, Haiyan, Zhou, Aimin, Wang, Heng

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Genetic Mapping of Glutaric Aciduria, Type 3, to Chromosome 7 and Identification of Mutations in C7orf10 由 Sherman, Eric A., Strauss, Kevin A., Tortorelli, Silvia, Bennett, Michael J., Knerr, Ina, Morton, D. Holmes, Puffenberger, Erik G.

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Classical maple syrup urine disease and brain development: Principles of management and formula design 由 Strauss, Kevin A., Wardley, Bridget, Robinson, Donna, Hendrickson, Christine, Rider, Nicholas L., Puffenberger, Erik G., Shelmer, Diana, Moser, Ann B., Morton, D. Holmes

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Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke 由 Xin, Baozhong, Jones, Stephen, Puffenberger, Erik G., Hinze, Claas, Bright, Alicia, Tan, Haiyan, Zhou, Aimin, Wu, Guiyun, Vargus-Adams, Jilda, Agamanolis, Dimitris, Wang, Heng

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Fractures on bisphosphonates in osteoporosis pseudoglioma syndrome (OPPG): pQCT shows poor bone density and structure 由 Streeten, Elizabeth A., Ramirez, Sheila, Eliades, Myrto, Jaimungal, Sarada, Chandrasekaran, Sruti, Kathleen, Ryan, Morton, D. Holmes, Puffenberger, Erik G., Herskovitz, Rita, Leonard, Mary B.

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Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency 由 Motzek, Antje, Knežević, Jelena, Switzeny, Olivier J., Cooper, Alexis, Barić, Ivo, Beluzić, Robert, Strauss, Kevin A., Puffenberger, Erik G., Mudd, S. Harvey, Vugrek, Oliver, Zechner, Ulrich

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Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history 由 Carson, Vincent J., Puffenberger, Erik G., Bowser, Lauren E., Brigatti, Karlla W., Young, Millie, Korulczyk, Dominika, Rodrigues, Ashlin S., Loeven, KaLynn K., Strauss, Kevin A.

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Identification of disease causing loci using an array-based genotyping approach on pooled DNA 由 Craig, David W, Huentelman, Matthew J, Hu-Lince, Diane, Zismann, Victoria L, Kruer, Michael C, Lee, Anne M, Puffenberger, Erik G, Pearson, John M, Stephan, Dietrich A

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Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B 由 Williams, Katie B., Horst, Michael, Young, Millie, Pascua, Christine, Puffenberger, Erik G., Brigatti, Karlla W., Gonzaga-Jauregui, Claudia, Shuldiner, Alan R., Gidding, Samuel, Strauss, Kevin A., Chowdhury, Devyani

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Preliminary Safety and Tolerability of a Novel Subcutaneous Intrathecal Catheter System for Repeated Outpatient Dosing of Nusinersen to Children and Adults With Spinal Muscular Atr... 由 Strauss, Kevin A., Carson, Vincent J., Brigatti, Karlla W., Young, Millie, Robinson, Donna L., Hendrickson, Christine, Fox, Michael D., Reed, Robert M., Puffenberger, Erik G., Mackenzie, William, Miller, Freeman

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Mutations in FLVCR1 Cause Posterior Column Ataxia and Retinitis Pigmentosa 由 Rajadhyaksha, Anjali M., Elemento, Olivier, Puffenberger, Erik G., Schierberl, Kathryn C., Xiang, Jenny Z., Putorti, Maria L., Berciano, José, Poulin, Chantal, Brais, Bernard, Michaelides, Michel, Weleber, Richard G., Higgins, Joseph J.

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Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease 由 Lohr, Naomi J., Molleston, Jean P., Strauss, Kevin A., Torres-Martinez, Wilfredo, Sherman, Eric A., Squires, Robert H., Rider, Nicholas L., Chikwava, Kudakwashe R., Cummings, Oscar W., Morton, D. Holmes, Puffenberger, Erik G.

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Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial and ectodermal anomalies 由 Loucks, Catrina M., Parboosingh, Jillian S., Shaheen, Ranad, Bernier, Francois P., McLeod, D. Ross, Seidahmed, Mohammed Z., Puffenberger, Erik G., Ober, Carole, Hegele, Robert A., Boycott, Kym M., Alkuraya, Fowzan S., Innes, A. Micheil

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Primary Ciliary Dyskinesia-Causing Mutations in Amish and Mennonite Communities 由 Ferkol, Thomas W., Puffenberger, Erik G., Lie, Hauw, Helms, Cynthia, Strauss, Kevin A., Bowcock, Anne, Carson, John L., Hazucha, Milan, Morton, D. Holmes, Patel, Anand C., Leigh, Margaret W., Knowles, Michael R., Zariwala, Maimoona A.

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Crigler-Najjar Syndrome Type 1: Pathophysiology, Natural History, and Therapeutic Frontier 由 Strauss, Kevin A., Ahlfors, Charles E., Soltys, Kyle, Mazareigos, George V., Young, Millie, Bowser, Lauren E., Fox, Michael D., Squires, James E., McKiernan, Patrick, Brigatti, Karlla W., Puffenberger, Erik G., Carson, Vincent J., Vreman, Hendrik J.

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A Homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans 由 Morlet, Thierry, Rabinowitz, Mindy R., Looney, Liesl R., Riegner, Tammy, Greenwood, L. Ashleigh, Sherman, Eric A., Achilly, Nathan, Zhu, Anni, Yoo, Estelle, ÓReilly, Robert C., Jinks, Robert N., Puffenberger, Erik G., Heaps, Adam, Morton, Holmes, Strauss, Kevin A.

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A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder 由 Strauss, Kevin A., Markx, Sander, Georgi, Benjamin, Paul, Steven M., Jinks, Robert N., Hoshi, Toshinori, McDonald, Ann, First, Michael B., Liu, Wencheng, Benkert, Abigail R., Heaps, Adam D., Tian, Yutao, Chakravarti, Aravinda, Bucan, Maja, Puffenberger, Erik G.

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