Abstract P5-09-21: Not presented

Autor: L Servais, Mauro de Lima Gomes, A Gardner, A Silvestrini, AD Zimmer, R Siqueira de Abreu e Lima

Publikováno v: Cancer Research. 79:P5-09

This abstract was not presented at the conference. Citation Format: Servais L, Gardner A, Gomes M, Zimmer AD, Silvestrini A, Siqueira de Abreu e Lima R. Not presented [abstract]. In: Proceedings of the 2018 San Antonio Breast Cancer Symposium; 2018 D

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::458005dc421dbdbd73ddc51afdb7a8f7
https://doi.org/10.1158/1538-7445.sabcs18-p5-09-21

Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.

Autor: Hotz A; Institute of Human Genetics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.; Center for Cornification Disorders, Freiburg Center for Rare Diseases, Medical Center, University of Freiburg, 79106 Freiburg, Germany.; European Reference Networks (ERN Skin), 75015 Paris, France., Kopp J; Institute of Human Genetics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany., Bourrat E; Department of Dermatology, Reference Center for Rare Skin Diseases MAGEC, Saint Louis Hospital AP-HP, 75015 Paris, France., Oji V; European Reference Networks (ERN Skin), 75015 Paris, France.; Department of Dermatology and Venereology, Muenster University Medical Center, 48149 Muenster, Germany., Süßmuth K; Department of Dermatology and Venereology, Muenster University Medical Center, 48149 Muenster, Germany., Komlosi K; Institute of Human Genetics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.; Center for Cornification Disorders, Freiburg Center for Rare Diseases, Medical Center, University of Freiburg, 79106 Freiburg, Germany.; European Reference Networks (ERN Skin), 75015 Paris, France., Bouadjar B; Department of Dermatology, CHU of Bab-El-Oued Algiers, Algiers 16008, Algeria., Tantcheva-Poór I; Department of Dermatology and Venereology, Faculty of Medicine and University Hospital, University of Cologne, 50937 Cologne, Germany., Hellström Pigg M; Clinical Genetics, Karolinska University Hospital, 171 64 Solna, Sweden., Betz RC; Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn, 53127 Bonn, Germany., Giehl K; European Reference Networks (ERN Skin), 75015 Paris, France.; Department of Dermatology, Venerology und Allergology, University Hospital of Munich, 80337 Munich, Germany., Schedel F; Department of Dermatology and Venereology, Muenster University Medical Center, 48149 Muenster, Germany., Weibel L; Pediatric Skin Center, Dermatology Department, University Children's Hospital Zurich, 8032 Zurich, Switzerland., Schulz S; Synlab Medical Practice for Human Genetics Jena, 07747 Jena, Germany., Stölzl DV; Center for Inflammatory Skin Diseases, Department of Dermatology and Allergy, University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany., Tadini G; European Reference Networks (ERN Skin), 75015 Paris, France.; Pediatric Dermatology Unit, Department of Pathophysiology and Transplantation, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, University of Milan, 20122 Milan, Italy., Demiral E; Department of Medical Genetics, Inonu University School of Medicine, 44280 Malatya, Turkey., Berggard K; Department of Dermatology and Venereology, Skåne University Hospital, 221 85 Lund, Sweden., Zimmer AD; Institute of Human Genetics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany., Alter S; Institute of Human Genetics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.; Center for Cornification Disorders, Freiburg Center for Rare Diseases, Medical Center, University of Freiburg, 79106 Freiburg, Germany.; European Reference Networks (ERN Skin), 75015 Paris, France., Fischer J; Institute of Human Genetics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.; Center for Cornification Disorders, Freiburg Center for Rare Diseases, Medical Center, University of Freiburg, 79106 Freiburg, Germany.; European Reference Networks (ERN Skin), 75015 Paris, France.

Publikováno v: Genes [Genes (Basel)] 2023 Mar 15; Vol. 14 (3). Date of Electronic Publication: 2023 Mar 15.

Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype-phenotype correlation.

Autor: Ennouri M; Laboratory of Molecular and Functional Genetics, Faculty of Sciences of Sfax, Sfax University, Sfax University, Street of Soukra km 4, BP 1171-3000, Sfax, Tunisia. mariamnouri1992@gmail.com., Zimmer AD; Faculty of Medicine, Institute of Human Genetics, Medical Center, University of Freiburg, Freiburg, Germany., Bahloul E; Department of Dermatology, CHU Hedi Chaker, Sfax University, Sfax, Tunisia., Chaabouni R; Department of Dermatology, CHU Hedi Chaker, Sfax University, Sfax, Tunisia., Marrakchi S; Department of Dermatology, CHU Hedi Chaker, Sfax University, Sfax, Tunisia., Turki H; Department of Dermatology, CHU Hedi Chaker, Sfax University, Sfax, Tunisia., Fakhfakh F; Laboratory of Molecular and Functional Genetics, Faculty of Sciences of Sfax, Sfax University, Sfax University, Street of Soukra km 4, BP 1171-3000, Sfax, Tunisia., Bougacha-Elleuch N; Laboratory of Molecular and Functional Genetics, Faculty of Sciences of Sfax, Sfax University, Sfax University, Street of Soukra km 4, BP 1171-3000, Sfax, Tunisia., Fischer J; Faculty of Medicine, Institute of Human Genetics, Medical Center, University of Freiburg, Freiburg, Germany.

Publikováno v: BMC medical genomics [BMC Med Genomics] 2022 Jan 05; Vol. 15 (1), pp. 4. Date of Electronic Publication: 2022 Jan 05.

The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome.

Autor: Resch LD; Medical Center, Faculty of Medicine, Institute of Human Genetics, University of Freiburg, 79106 Freiburg, Germany., Hotz A; Medical Center, Faculty of Medicine, Institute of Human Genetics, University of Freiburg, 79106 Freiburg, Germany., Zimmer AD; Medical Center, Faculty of Medicine, Institute of Human Genetics, University of Freiburg, 79106 Freiburg, Germany., Komlosi K; Medical Center, Faculty of Medicine, Institute of Human Genetics, University of Freiburg, 79106 Freiburg, Germany., Singh N; Medical Center, Faculty of Medicine, Institute of Human Genetics, University of Freiburg, 79106 Freiburg, Germany., Tzschach A; Medical Center, Faculty of Medicine, Institute of Human Genetics, University of Freiburg, 79106 Freiburg, Germany., Windfuhr-Blum M; Radiology, Medical Center, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany., Juhasz-Boess I; Department of Obstetrics and Gynaecology, Medical Center, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany., Erbes T; Department of Obstetrics and Gynaecology, Medical Center, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany., Fischer J; Medical Center, Faculty of Medicine, Institute of Human Genetics, University of Freiburg, 79106 Freiburg, Germany., Alter S; Medical Center, Faculty of Medicine, Institute of Human Genetics, University of Freiburg, 79106 Freiburg, Germany.

Publikováno v: Genes [Genes (Basel)] 2021 Sep 24; Vol. 12 (10). Date of Electronic Publication: 2021 Sep 24.

Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis-ichthyosis-deafness (KIDAR) syndrome.

Autor: Vornweg J; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Gläser S; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Ahmad-Anwar M; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Zimmer AD; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Kuhn M; Genetikum, Neu-Ulm, Germany., Hörer S; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Korenke GC; Department of Pediatric Neurology, Klinikum Oldenburg, Oldenburg, Germany., Grothaus J; Department of Pediatric Dermatology and Allergology, Center for Epidermolysis Bullosa, Children's Hospital Auf der Bult, Hanover, Germany., Ott H; Department of Pediatric Dermatology and Allergology, Center for Epidermolysis Bullosa, Children's Hospital Auf der Bult, Hanover, Germany., Fischer J; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

Publikováno v: The British journal of dermatology [Br J Dermatol] 2021 Jun; Vol. 184 (6), pp. 1190-1192. Date of Electronic Publication: 2021 Mar 03.