Genetic and Molecular Evaluation: Reporting Three Novel Mutations and Creating Awareness of Pycnodysostosis Disease.

Autor: Sayed Amr K; Molecular Genetics Department, National Research Centre, Cairo 12622, Egypt., El-Bassyouni HT; Clinical Genetics Department, National Research Centre, Cairo 12622, Egypt., Abdel Hady S; Pediatric Department, Cairo University, Cairo 12613, Egypt., Mostafa MI; Oro-Dental Genetics Department, National Research Centre, Cairo 12622, Egypt., Mehrez MI; Oro-Dental Genetics Department, National Research Centre, Cairo 12622, Egypt., Coviello D; Laboratorio di Genetica Umana, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., El-Kamah GY; Clinical Genetics Department, National Research Centre, Cairo 12622, Egypt.

Publikováno v: Genes [Genes (Basel)] 2021 Sep 29; Vol. 12 (10). Date of Electronic Publication: 2021 Sep 29.

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.

Autor: Palencia-Campos A; Instituto de Investigaciones Biomédicas 'Alberto Sols,' Consejo Superior de Investigaciones Científicas (CSIC)-Universidad Autónoma de Madrid (UAM), Madrid, 28029, Spain; CIBER de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, 28029, Spain., Aoto PC; Department of Pharmacology, University of California, San Diego, 9400 Gilman Drive, La Jolla, CA 92093-0654, USA., Machal EMF; Institute for Biology, Department of Biochemistry, University of Kassel, Kassel, 34132, Germany., Rivera-Barahona A; Instituto de Investigaciones Biomédicas 'Alberto Sols,' Consejo Superior de Investigaciones Científicas (CSIC)-Universidad Autónoma de Madrid (UAM), Madrid, 28029, Spain; CIBER de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, 28029, Spain., Soto-Bielicka P; Instituto de Investigaciones Biomédicas 'Alberto Sols,' Consejo Superior de Investigaciones Científicas (CSIC)-Universidad Autónoma de Madrid (UAM), Madrid, 28029, Spain., Bertinetti D; Institute for Biology, Department of Biochemistry, University of Kassel, Kassel, 34132, Germany., Baker B; Department of Pharmacology, University of California, San Diego, 9400 Gilman Drive, La Jolla, CA 92093-0654, USA., Vu L; Department of Pharmacology, University of California, San Diego, 9400 Gilman Drive, La Jolla, CA 92093-0654, USA., Piceci-Sparascio F; Medical Genetics Unit, Casa Sollievo della Sofferenza Foundation, IRCCS, San Giovanni Rotondo, 71013, Italy., Torrente I; Medical Genetics Unit, Casa Sollievo della Sofferenza Foundation, IRCCS, San Giovanni Rotondo, 71013, Italy., Boudin E; Department of Medical Genetics, University of Antwerp, Edegem, 2650, Belgium., Peeters S; Department of Medical Genetics, University of Antwerp, Edegem, 2650, Belgium., Van Hul W; Department of Medical Genetics, University of Antwerp, Edegem, 2650, Belgium., Huber C; Clinical Genetics and Reference Center for Skeletal Dysplasia, AP-HP, Necker-Enfants Malades Hospital, Paris, 75015, France; Université De Paris, INSERM UMR1163, Institut Imagine, Paris, 75015, France., Bonneau D; Biochemistry and Genetics Department, Angers Hospital, Angers Cedex 9, 49933, France; UMR CNRS 6015-INSERM U1083, MitoVasc Institute, Angers University, Angers Cedex 9, 49933, France., Hildebrand MS; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Heidelberg, 3084, Victoria, Australia; Murdoch Children's Research Institute, Parkville, 3052, Victoria, Australia., Coleman M; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Heidelberg, 3084, Victoria, Australia; Murdoch Children's Research Institute, Parkville, 3052, Victoria, Australia., Bahlo M; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, 3052, Victoria, Australia; Department of Medical Biology, University of Melbourne, Melbourne, 3010, Victoria, Australia., Bennett MF; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Heidelberg, 3084, Victoria, Australia; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, 3052, Victoria, Australia; Department of Medical Biology, University of Melbourne, Melbourne, 3010, Victoria, Australia., Schneider AL; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Heidelberg, 3084, Victoria, Australia., Scheffer IE; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Heidelberg, 3084, Victoria, Australia; Murdoch Children's Research Institute, Parkville, 3052, Victoria, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, and Florey Institute of Neuroscience and Mental Health, Parkville, 3052, Victoria, Australia., Kibæk M; Children's Hospital of H.C. Andersen, Odense University Hospital, 5000 Odense, Denmark., Kristiansen BS; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark., Issa MY; Department of Clinical Genetics, Division of Human Genetics and Genome Research, Center of Excellence for Human Genetics, National Research Centre, Cairo, 12622, Egypt., Mehrez MI; Department of Oro-dental Genetics, Division of Human Genetics and Genome Research. Center of Excellence for Human Genetics, National Research Centre, Cairo, 12622, Egypt., Ismail S; Department of Clinical Genetics, Division of Human Genetics and Genome Research, Center of Excellence for Human Genetics, National Research Centre, Cairo, 12622, Egypt., Tenorio J; CIBER de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, 28029, Spain; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Universidad Autónoma, Madrid, 28046, Spain; ITHACA, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability., Li G; Division for Molecular Nutrition, Institute for Basic Medical Sciences, University of Oslo, Oslo, 0316, Norway., Skålhegg BS; Division for Molecular Nutrition, Institute for Basic Medical Sciences, University of Oslo, Oslo, 0316, Norway., Otaify GA; Department of Clinical Genetics, Division of Human Genetics and Genome Research, Center of Excellence for Human Genetics, National Research Centre, Cairo, 12622, Egypt., Temtamy S; Department of Clinical Genetics, Division of Human Genetics and Genome Research, Center of Excellence for Human Genetics, National Research Centre, Cairo, 12622, Egypt., Aglan M; Department of Clinical Genetics, Division of Human Genetics and Genome Research, Center of Excellence for Human Genetics, National Research Centre, Cairo, 12622, Egypt., Jønch AE; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark., De Luca A; Medical Genetics Unit, Casa Sollievo della Sofferenza Foundation, IRCCS, San Giovanni Rotondo, 71013, Italy., Mortier G; Department of Medical Genetics, University of Antwerp, Edegem, 2650, Belgium; Antwerp University Hospital, Edegem, 2650, Belgium., Cormier-Daire V; Clinical Genetics and Reference Center for Skeletal Dysplasia, AP-HP, Necker-Enfants Malades Hospital, Paris, 75015, France; Université De Paris, INSERM UMR1163, Institut Imagine, Paris, 75015, France., Ziegler A; Biochemistry and Genetics Department, Angers Hospital, Angers Cedex 9, 49933, France; UMR CNRS 6015-INSERM U1083, MitoVasc Institute, Angers University, Angers Cedex 9, 49933, France., Wallis M; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, 7001, Australia; Clinical Genetics Service, Austin Health, Heidelberg, 3084, Victoria, Australia., Lapunzina P; CIBER de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, 28029, Spain; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Universidad Autónoma, Madrid, 28046, Spain; ITHACA, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability., Herberg FW; Institute for Biology, Department of Biochemistry, University of Kassel, Kassel, 34132, Germany., Taylor SS; Department of Pharmacology, University of California, San Diego, 9400 Gilman Drive, La Jolla, CA 92093-0654, USA; Department of Chemistry and Biochemistry, University of California, San Diego, 9400 Gilman Drive, La Jolla, CA 92093-0654, USA., Ruiz-Perez VL; Instituto de Investigaciones Biomédicas 'Alberto Sols,' Consejo Superior de Investigaciones Científicas (CSIC)-Universidad Autónoma de Madrid (UAM), Madrid, 28029, Spain; CIBER de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, 28029, Spain; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Universidad Autónoma, Madrid, 28046, Spain; ITHACA, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability. Electronic address: vlruiz@iib.uam.es.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2020 Nov 05; Vol. 107 (5), pp. 977-988. Date of Electronic Publication: 2020 Oct 14.

Genetic study of eight Egyptian patients with pycnodysostosis: identification of novel CTSK mutations and founder effect.

Autor: Otaify GA; Clinical Genetics Department, Human Genetics and Genome Research Division, Center of Excellence for Human Genetics, National Research Centre, Cairo, Egypt. ghadaotaify@yahoo.com., Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Mehrez MI; Orodental Genetics Department, Human Genetics and Genome Research Division, Center of Excellence for Human Genetics, National Research Centre, Cairo, Egypt., Aboul-Ezz E; Dental Basic Science Department, Dental and Oral Research Division, National Research Centre, Cairo, Egypt., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, Center of Excellence for Human Genetics, National Research Centre, Cairo, Egypt., Aglan MS; Clinical Genetics Department, Human Genetics and Genome Research Division, Center of Excellence for Human Genetics, National Research Centre, Cairo, Egypt., Temtamy SA; Clinical Genetics Department, Human Genetics and Genome Research Division, Center of Excellence for Human Genetics, National Research Centre, Cairo, Egypt.

Publikováno v: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA [Osteoporos Int] 2018 Aug; Vol. 29 (8), pp. 1833-1841. Date of Electronic Publication: 2018 May 23.

Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type-2.

Autor: El-Ruby M; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., El-Din Fayez A; Medical Molecular Genetics and Enzymology Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., El-Dessouky SH; Prenatal Diagnosis and Fetal Medicine Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Aglan MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Mazen I; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Ismail N; Medical Molecular Genetics and Enzymology Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Afifi HH; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Eid MM; Human Cytogenetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Mostafa MI; Orodental Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Mehrez MI; Orodental Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Khalil Y; Orodental Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Gaber KR; Prenatal Diagnosis and Fetal Medicine Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Abdel-Salam GMH; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2018 May; Vol. 176 (5), pp. 1190-1194.

Lipoid proteinosis: A clinical and molecular study in Egyptian patients.

Autor: Afifi HH; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt. Electronic address: hhafifi@gmail.com., Amr KS; Medical Molecular Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Tosson AMS; Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Hassan TA; Otolaryngology Head and Neck Surgery Unit, Hearing and Speech Institute, Cairo, Egypt., Mehrez MI; Orodental Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., El-Kamah GY; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

Publikováno v: Gene [Gene] 2017 Sep 10; Vol. 628, pp. 308-314. Date of Electronic Publication: 2017 Jul 15.