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Journal of the American Academy of Dermatology, ISSN 0190-9622, 2010, Volume 63, Issue 4, pp. 607 - 641
Background Inherited ichthyoses belong to a large, clinically and etiologically heterogeneous group of mendelian disorders of cornification, typically... 
Dermatology | mendelian disorders of cornification | genetics | histology | superficial epidermolytic ichthyosis | keratinopathic ichthyosis | epidermolytic ichthyosis | ultrastructure | autosomal recessive congenital ichthyosis | SJOGREN-LARSSON-SYNDROME | EPIDERMAL PERMEABILITY BARRIER | HEALING COLLODION BABY | CHANARIN-DORFMAN-SYNDROME | PEELING-SKIN-SYNDROME | OF-FUNCTION MUTATIONS | EPIDERMOLYTIC HYPERKERATOSIS | DERMATOLOGY | LIPID STORAGE DISEASE | BATHING-SUIT ICHTHYOSIS | RECESSIVE CONGENITAL ICHTHYOSIS | Severity of Illness Index | Congresses as Topic | Genetic Predisposition to Disease | Prognosis | Practice Guidelines as Topic - standards | Humans | Gene Expression Regulation | Terminology as Topic | Infant | Male | Dermatologic Agents - therapeutic use | Ichthyosiform Erythroderma, Congenital - classification | Young Adult | Ichthyosis - classification | Adolescent | Adult | Female | France | Child | Infant, Newborn | Ichthyosiform Erythroderma, Congenital - drug therapy | Ichthyosiform Erythroderma, Congenital - genetics | Genetics | Genetic disorders | Developmental biology | Hospices (Terminal care) | Ichthyosis | autosomal recessive congenital ichthyosis; epidermolytic ichthyosis; genetics; histology; keratinopathic ichthyosis; mendelian disorders of cornification; superficial epidermolytic ichthyosis; ultrastructure | Medical and Health Sciences | Dermatology and Venereal Diseases | Medicin och hälsovetenskap | Dermatologi och venereologi | Klinisk medicin | MEDICINE | Dermatology and venerology,clinical genetics, internal medicine | Clinical Medicine | MEDICIN | Dermatologi och venerologi | Dermatologi och venerologi, klinisk genetik, invärtesmedicin | Dermatology and venerology
Journal Article
by de la Morena, M. Teresa, MD and Leonard, David, PhD and Torgerson, Troy R., MD, PhD and Cabral-Marques, Otavio, PhD and Slatter, Mary, MD and Aghamohammadi, Asghar, MD and Chandra, Sharat, MD and Murguia-Favela, Luis, MD and Bonilla, Francisco A., MD, PhD and Kanariou, Maria, MD and Damrongwatanasuk, Rongras, MD and Kuo, Caroline Y., MD and Dvorak, Christopher C., MD and Meyts, Isabelle, MD and Chen, Karin, MD and Kobrynski, Lisa, MD, MPH and Kapoor, Neena, MD and Richter, Darko, MD and DiGiovanni, Daniela, MD and Dhalla, Fatima, MD and Farmaki, Evangelia, MD and Speckmann, Carsten, MD and Español, Teresa, MD and Shcherbina, Anna, MD and Hanson, Imelda Celine, MD and Litzman, Jiri, MD and Routes, John M., MD and Wong, Melanie, MD, PhD and Fuleihan, Ramsay, MD and Seneviratne, Suranjith L., MD and Small, Trudy N., MD and Janda, Ales, MD and Bezrodnik, Liliana, MD and Seger, Reinhard, MD and Raccio, Andrea Gomez, MD and Edgar, J. David M., MD and Chou, Janet, MD and Abbott, Jordan K., MD and van Montfrans, Joris, MD and González-Granado, Luis Ignacio, MD and Bunin, Nancy, MD and Kutukculer, Necil, MD and Gray, Paul, MD and Seminario, Gisela, MD and Pasic, Srdjan, MD and Aquino, Victor, MD and Wysocki, Christian, MD, PhD and Abolhassani, Hassan, MD and Dorsey, Morna, MD and Cunningham-Rundles, Charlotte, MD, PhD and Knutsen, Alan P., MD and Sleasman, John, MD and Costa Carvalho, Beatriz Tavares, MD and Condino-Neto, Antonio, MD and Grunebaum, Eyal, MD and Chapel, Helen, MD and Ochs, Hans D., MD, PhD and Filipovich, Alexandra, MD and Cowan, Mort, MD and Gennery, Andrew, MD and Cant, Andrew, MD and Notarangelo, Luigi D., MD and Roifman, Chaim M., MD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 4, pp. 1282 - 1292
Background X-linked hyper-IgM syndrome (XHIGM) is a primary immunodeficiency with high morbidity and mortality compared with those seen in healthy subjects.... 
Allergy and Immunology | hematopoietic cell transplantation | CD40 ligand | primary immunodeficiency | defects in class-switch recombination | long-term outcomes | X-linked hyper-IgM syndrome | Karnofsky/Lansky scores | CD40 LIGAND DEFICIENCY | BONE-MARROW-TRANSPLANTATION | CHRONIC GRANULOMATOUS-DISEASE | WISKOTT-ALDRICH-SYNDROME | CLINICAL-FEATURES | IMMUNOLOGY | CHILDREN | DEFECTIVE EXPRESSION | PRIMARY IMMUNODEFICIENCY DISEASES | ALLERGY | EUROPEAN EXPERIENCE | T-CELLS | Hyper-IgM Immunodeficiency Syndrome - therapy | Follow-Up Studies | Humans | Middle Aged | Kaplan-Meier Estimate | Proportional Hazards Models | Child, Preschool | Infant | Male | Time | Hematopoietic Stem Cell Transplantation - mortality | Young Adult | Hyper-IgM Immunodeficiency Syndrome - mortality | Adolescent | Adult | Female | Retrospective Studies | Child | Cohort Studies | Transplantation | Hematopoietic stem cells | Analysis | Therapy | Disease | Liver | Central nervous system | Nervous system | Antiinfectives and antibacterials | Blood | Risk factors | Antibody response | Neurodegeneration | Bone marrow | Genetics | Diagnosis | Conditioning | Neutropenia | Binding | Wiskott-Aldrich syndrome | Immunoglobulins | Liver diseases | Mortality | Agammaglobulinemia | BCG | Cholangitis | Hazards | Regression analysis | Survival | Bile duct | Studies | Stem cells | Accident prevention | Ligands | Mutation | Protocol (computers) | Bile | Immunoglobulin M | Pneumonia | Transplants & implants | Physicians | Immunoglobulin G | Medical services | Prophylaxis | Infections | Malignancy | Defects | Respiratory tract | Allografts | Bacteria | Children | Age | Medical personnel | Bacterial infections | Complications | Blood cells | Hypersensitivity | Switching | Morbidity | Computer programs | Lymphocytes B | Aplasia | Collaboration | Medical prognosis | Health hazards | Cancer | Lansky scores | Karnofsky
Journal Article
by Marks, Florian, Dr and von Kalckreuth, Vera, MD and Aaby, Peter, DMSc and Adu-Sarkodie, Yaw, Prof and El Tayeb, Muna Ahmed, MD and Ali, Mohammad, PhD and Aseffa, Abraham, PhD and Baker, Stephen, Prof and Biggs, Holly M, MD and Bjerregaard-Andersen, Morten, PhD and Breiman, Robert F, MD and Campbell, James I, FIBMS and Cosmas, Leonard, MPH and Crump, John A, Prof and Espinoza, Ligia Maria Cruz, MD and Deerin, Jessica Fung, MPH and Dekker, Denise Myriam, PhD and Fields, Barry S, PhD and Gasmelseed, Nagla, Prof and Hertz, Julian T, MD and Van Minh Hoang, Nguyen, MSc and Im, Justin, MSc and Jaeger, Anna, BA and Jeon, Hyon Jin, BA and Kabore, Leon Parfait, MSc and Keddy, Karen H, MMed and Konings, Frank, PhD and Krumkamp, Ralf, DrPH and Ley, Benedikt, PhD and Løfberg, Sandra Valborg, MD and May, Jürgen, Prof and Meyer, Christian G, MD and Mintz, Eric D, MD and Montgomery, Joel M, PhD and Niang, Aissatou Ahmet, MSc and Nichols, Chelsea, MPH and Olack, Beatrice, MPHE and Pak, Gi Deok, MSc and Panzner, Ursula, MSc and Park, Jin Kyung, PhD and Park, Se Eun, MIS and Rabezanahary, Henintsoa, MD and Rakotozandrindrainy, Raphaël, MD and Raminosoa, Tiana Mirana, PhD and Razafindrabe, Tsiriniaina Jean Luco, PhD and Sampo, Emmanuel, MSc and Schütt-Gerowitt, Heidi, MD and Sow, Amy Gassama, Prof and Sarpong, Nimako, MD and Seo, Hye Jin, BA and Sooka, Arvinda, MSc and Soura, Abdramane Bassiahi, PhD and Tall, Adama, PhD and Teferi, Mekonnen, MSc and Thriemer, Kamala, PhD and Warren, Michelle R, MSc and Yeshitela, Biruk, MSc and Clemens, John D, Prof and Wierzba, Thomas F, PhD
Lancet Global Health, ISSN 2214-109X, 2017, Volume 5, Issue 3, pp. e310 - e323
Journal Article
by Thompson, Eric M, MD and Hielscher, Thomas, MSc and Bouffet, Eric, Prof and Remke, Marc, MD and Luu, Betty, BSc and Gururangan, Sridharan, Prof and McLendon, Roger E, Prof and Bigner, Darell D, Prof and Lipp, Eric S, MD and Perreault, Sebastien, MD and Cho, Yoon-Jae, MD and Grant, Gerald, MD and Kim, Seung-Ki, Prof and Lee, Ji Yeoun, MD and Rao, Amulya A Nageswara, MD and Giannini, Caterina, Prof and Li, Kay Ka Wai, MD and Ng, Ho-Keung, Prof and Yao, Yu, MD and Kumabe, Toshihiro, MD and Tominaga, Teiji, Prof and Grajkowska, Wieslawa A, Prof and Perek-Polnik, Marta, Prof and Low, David C Y, MBBCh and Seow, Wan Tew, MBBS and Chang, Kenneth T E, MBBCh and Mora, Jaume, Prof and Pollack, Ian F, Prof and Hamilton, Ronald L, MD and Leary, Sarah, MD and Moore, Andrew S, PhD and Ingram, Wendy J, PhD and Hallahan, Andrew R, MBBS and Jouvet, Anne, MD and Fèvre-Montange, Michelle, PhD and Vasiljevic, Alexandre, MD and Faure-Conter, Cecile, MD and Shofuda, Tomoko, PhD and Kagawa, Naoki, MD and Hashimoto, Naoya, MD and Jabado, Nada, MD and Weil, Alexander G, MD and Gayden, Tenzin, PhD and Wataya, Takafumi, MD and Shalaby, Tarek, MD and Grotzer, Michael, Prof and Zitterbart, Karel, PhD and Sterba, Jaroslav, Prof and Kren, Leos, MD and Hortobágyi, Tibor, Prof and Klekner, Almos, PhD and László, Bognár, Prof and Pócza, Tímea, MSc and Hauser, Peter, MD and Schüller, Ulrich, MD and Jung, Shin, Prof and Jang, Woo-Youl, MD and French, Pim J, Prof and Kros, Johan M, Prof and van Veelen, Marie-Lise C, MD and Massimi, Luca, MD and Leonard, Jeffrey R, Prof and Rubin, Joshua B, MD and Vibhakar, Rajeev, MD and Chambless, Lola B, MD and Cooper, Michael K, MD and Thompson, Reid C, Prof and Faria, Claudia C, MD and Carvalho, Alice, MD and Nunes, Sofia, MD and Pimentel, José, MD and Fan, Xing, MD and Muraszko, Karin M, Prof and López-Aguilar, Enrique, MD and Lyden, David, Prof and Garzia, Livia, PhD and Shih, David J H, PhD and Kijima, Noriyuki, MD and Schneider, Christian, MD and Adamski, Jennifer, PhD and Northcott, Paul A, PhD and Kool, Marcel, PhD and Jones, David T W, PhD and Chan, Jennifer A, MD and Nikolic, Ana, MD and Garre, Maria Luisa, MD and Van Meir, Erwin G, Prof and Osuka, Satoru, MD and Olson, Jeffrey J, Prof and Jahangiri, Arman, BSc and Castro, Brandyn A, BSc and Gupta, Nalin, MD and Weiss, William A, Prof and Moxon-Emre, Iska, MSc and Mabbott, Donald J, PhD and Lassaletta, Alvaro, MD and Hawkins, Cynthia E, Prof and Tabori, Uri, MD and Drake, James, Prof and Kulkarni, Abhaya, Prof and ...
The Lancet Oncology, ISSN 1470-2045, 2016, Volume 17, Issue 4, pp. 484 - 495
Journal Article
Journal Article