Zobrazeno 1 - 10 of 16 pro vyhledávání: '"Karen L. David"'
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Alacrima as a Harbinger of Adrenal Insufficiency in a Child with Allgrove (AAA) Syndrome
Autor: Levon Agdere, Cornelia Muntean, Brande Brown, Karen L. David
Publikováno v: The American Journal of Case Reports
Patient: Female, 6 Final Diagnosis: Allgrove syndrome Symptoms: Achalasia • adrenal insufficiency • alacrima Medication: — Clinical Procedure: — Specialty: Pediatrics and Neonatology Objective: Rare disease Background: Allgrove syndrome, or t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c925e452212a0b460ad84c456cd78ef8
http://europepmc.org/articles/PMC5051599
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4
Cover Image, Volume 173A, Number 12, December 2017
Autor: Isabel Hardee, Ariane Soldatos, Mariska Davids, Thierry Vilboux, Camilo Toro, Karen L. David, Carlos R. Ferreira, Michele Nehrebecky, Joseph Snow, Audrey Thurm, Theo Heller, Ellen F. Macnamara, Meral Gunay-Aygun, Wadih M. Zein, William A. Gahl, May Christine V. Malicdan
Publikováno v: American journal of medical genetics. Part A. 173(12)
The cover image, by Isabel Hardee et al., is based on the Clinical Report Defective ciliogenesis in INPP5E-related Joubert syndrome, DOI: 10.1002/ajmg.a.38376. Design Credit: Darryl Leja.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e17fc7393bfd5eeeefb1d868e0281af6
https://pubmed.ncbi.nlm.nih.gov/29136352
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5
Defective ciliogenesis in INPP5E-related Joubert syndrome
Autor: Karen L. David, Carlos Ferreira, Theo Heller, Ellen Macnamara, Camilo Toro, William A. Gahl, Michele Nehrebecky, Thierry Vilboux, Joseph Snow, Audrey Thurm, Meral Gunay-Aygun, Isabel Hardee, Ariane Soldatos, Mariska Davids, Wadih M. Zein, May Christine V. Malicdan
Joubert syndrome is a neurodevelopmental disorder, characterized by malformation of the mid and hindbrain leading to the pathognomonic molar tooth appearance of the brainstem and cerebellum on axial MRI. Core clinical manifestations include hypotonia
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c6616fe51f019d946740c41ddc5e43f
https://europepmc.org/articles/PMC5685896/
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8
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation
Autor: Angela E. Scheuerle, Ludwine Messiaen, Yunjia Chen, Kitiwan Rojnueangnit, Martin G. Bialer, Kathy A. Leppig, Anne Destree, Salmo Raskin, Mary Alice Abbott, Jennifer Ibrahim, Shay Ben-Shachar, Jordi Rosell, Elizabeth K. Schorry, Patricia Galvin-Parton, James H. Tonsgard, Tom Callens, Dawn L. Earl, Begona Ezquieta, Eniko K. Pivnick, Dennis Bartholomew, Sandra Janssens, Christian P. Schaaf, Meagan E. Cochran, Gary Bellus, Stephanie E Wallace, Isabel Llano-Rivas, Vinodh Narayanan, Angela Sharp, Anna Duat-Rodriguez, Helio Pedro, Ishwar C. Verma, Meredith Schultz, Ying Liu, Jing Xie, Dusica Babovic-Vuksanovic, Elizabeth Siqveland, Kathleen Claes, Bruce Blumberg, Vinod K. Misra, Meena Upadhyaya, Rhonda E. Schnur, Jonathan Zonana, Elaine H. Zackai, Eric Legius, Bruce R. Korf, Melissa Crenshaw, David P. Bick, Fanny Cortés, Joan F. Atkin, Alicia Gomes, Marie T. McDonald, Linda M. Randolph, Lina Basel, Conxi Lázaro, Margretta R. Seashore, Karen W. Gripp, Kurt Heyrman, Beth Keena, Marthanda Eswara, Moshe Frydman, Christopher P. Barnett, Yolanda Martin, Jennifer Mulbury, Luis F. Escobar, Amanda Tkachuk, Naama Orenstein, Kathy Gardner, Karen L. David, Karol Rubin, Charles A. Williams, Concepción Hernández-Chico, Cynthia M. Powell, Ian M. Frayling
Publikováno v: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Human Mutation
HUMAN MUTATION
Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders, affecting 1:3,000 worldwide. Identification of genotype-phenotype correlations is challenging because of the wide range clinical variability, the progressive nature of the
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48a9df3c1f7cd6663ed2834738a47b22
https://hdl.handle.net/20.500.12530/21276
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9
Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene
Autor: Zhongyuan Li, Essam A.R. Ismail, Albert de la Chapelle, James D. Perko, Ralph Gräsbeck, Stephan M. Tanner, Laurence Faivre, Mualla Cetin, Zekiye Yurtsever, C. Öner, Cigdem Altay, Karen L. David
Publikováno v: Proceedings of the National Academy of Sciences. 102:4130-4133
Hereditary juvenile megaloblastic anemia due to vitamin B 12 (cobalamin) deficiency is caused by intestinal malabsorption of cobalamin. In Imerslund–Gräsbeck syndrome (IGS), cobalamin absorption is completely abolished and not corrected by the adm
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7f68697644b693023e83ce34c63dd83
https://doi.org/10.1073/pnas.0500517102
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10
Ethical and Policy Issues in Genetic Testing and Screening of Children
Autor: Howard M. Saal, Karen L. David, Rebecca Anderson, Lainie Friedman Ross
Publikováno v: Pediatrics. 131:620-622
The genetic testing and genetic screening of children are commonplace. Decisions about whether to offer genetic testing and screening should be driven by the best interest of the child. The growing literature on the psychosocial and clinical effects
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ee6c3bb097a05749564d76fc63fe52d
https://doi.org/10.1542/peds.2012-3680
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