The application of clinical genetics

Keyphrases

Publications

volume 16, 2023

Filippos Kyriakidis, Dionysios Kogias, Theodora Maria Venou, Eleni Karlafti, Daniel Paramythiotis
Updated Perspectives on the Diagnosis and Management of Familial Adenomatous Polyposis. The application of clinical genetics 16 (2023)
Lisa Ximena Rodriguez-Rojas, Estephania Candelo, Harry Pachajoa, Juan Esteban Garcia-Robledo, José Antonio Nastasi-Catanese, Jorge Andres Olave-Rodriguez, Angela R Zambrano
The Unique Spectrum of MUTYH Germline Mutations in Colombian Patients with Extracolonic Carcinomas. The application of clinical genetics 16 (2023)
Divya Ail, Hugo Malki, Emilia A Zin, Deniz Dalkara
Adeno-Associated Virus (AAV) - Based Gene Therapies for Retinal Diseases: Where are We? The application of clinical genetics 16 (2023)
Ampaiwan Chuansumrit, Rungrote Natesirinilkul, Nongnuch Sirachainan, Praguywan Kadegasem, Pacharapan Surapolchai, Noppawan Tangbubpha, Ketsuda Kempka, Tanyanee Khlangtan
Multicenter Study of Diagnostic Tool for Patients with Hemophilia: From Bedside to Comprehensive Investigations. The application of clinical genetics 16 (2023)
Divyani Garg, Shekeeb Mohammad, Anju Shukla, Suvasini Sharma
Genetic Links to Episodic Movement Disorders: Current Insights. The application of clinical genetics 16 (2023)
Hanna J Tadros, Christina Y Miyake, Debra L Kearney, Jeffrey J Kim, Susan W Denfield
The Many Faces of Arrhythmogenic Cardiomyopathy: An Overview. The application of clinical genetics 16 (2023)
Bastien Grandjean, Amina Scherz, Manuela Rabaglio
Eleven Years of Oncogenetic Consultations in a Swiss Center: Patient and Testing Characteristics. The application of clinical genetics 16 (2023)
Kulawan Rojananuangnit, Kitiwan Rojnueangnit
Microspherophakic Angle Closure Glaucoma in a Patient with Coffin-Siris Syndrome: Case Report. The application of clinical genetics 16 (2023)
Lisa Ximena Rodriguez-Rojas, Estephania Candelo, Harry Pachajoa, Juan Esteban Garcia-Robledo, José Antonio Nastasi-Catanese, Jorge Andres Olave-Rodriguez, Angela R Zambrano
The Unique Spectrum of MUTYH Germline Mutations in Colombian Patients with Extracolonic Carcinomas. The application of clinical genetics 16 (2023)
Lisa Ximena Rodriguez-Rojas, Estephania Candelo, Harry Pachajoa, Juan Esteban Garcia-Robledo, José Antonio Nastasi-Catanese, Jorge Andres Olave-Rodriguez, Angela R Zambrano
The Unique Spectrum of MUTYH Germline Mutations in Colombian Patients with Extracolonic Carcinomas. The application of clinical genetics 16 (2023)
Van K Ma, Rong Mao, Jessica N Toth, Makenzie L Fulmer, Alena S Egense, Suma P Shankar
Prader-Willi and Angelman Syndromes: Mechanisms and Management. The application of clinical genetics 16 (2023)
Rafał Patryn, Anna Zagaja, Mariola Drozd
Donor Safety, Discrepancies Between Practice and Theory: Analysis of the Polish Supreme Audit Office's Report. The application of clinical genetics 16 (2023)
Lisa Ximena Rodriguez-Rojas, Estephania Candelo, Harry Pachajoa, Juan Esteban Garcia-Robledo, José Antonio Nastasi-Catanese, Jorge Andres Olave-Rodriguez, Angela R Zambrano
The Unique Spectrum of MUTYH Germline Mutations in Colombian Patients with Extracolonic Carcinomas. The application of clinical genetics 16 (2023)
The Son Trinh, Nhat Ngoc Nguyen, Hien Thi Thu Le, Hanh Thi My Pham, Sang Trieutien, Ngoc Thao My Tran, Hung Sy Ho, Danh Van Tran, Tam Van Trinh, Hiep Trong Hoang Nguyen, Ngoc Pham Minh, Trinh Duc Dang, Viet Huu Dinh, Hang Thi Doan
Screening Y Chromosome Microdeletion in 1121 Men with Low Sperm Concentration and the Outcomes of Microdissection Testicular Sperm Extraction (mTESE) for Sperm Retrieval from Azoospermic Patients. The application of clinical genetics 16 (2023)
Karin E M Diderich, Jasmijn E Klapwijk, Vyne van der Schoot, Hennie T Brüggenwirth, Marieke Joosten, Malgorzata Ilona Srebniak
Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing. The application of clinical genetics 16 (2023)
Amina Scherz, Susanna Stoll, Benno Rothlisberger, Manuela Rabaglio
A New de novo BRCA1 Mutation in a Young Breast Cancer Patient: A Case Report. The application of clinical genetics 16 (2023)
Ninna Karsbæk Senftleber, Stina Ramne, Ida Moltke, Marit Eika Jorgensen, Anders Albrechtsen, Torben Hansen, Mette K Andersen
Genetic Loss of Sucrase-Isomaltase Function: Mechanisms, Implications, and Future Perspectives. The application of clinical genetics 16 (2023)
Luis Fernando Sanchez-Espino, Marta Ivars, Javier Antoñanzas, Eulalia Baselga
Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache. The application of clinical genetics 16 (2023)
Agnes Stephanie Harahap, Imam Subekti, Sonar Soni Panigoro, Asmarinah, null Lisnawati, Retno Asti Werdhani, Hasrayati Agustina, Dina Khoirunnisa, Mutiah Mutmainnah, null Salinah, Alvita Dewi Siswoyo, Maria Francisca Ham
Profile of BRAF V600E, BRAF K601E, NRAS, HRAS , and KRAS Mutational Status, and Clinicopathological Characteristics of Papillary Thyroid Carcinoma in Indonesian National Referral Hospital. The application of clinical genetics 16 (2023)
Ninna Karsbæk Senftleber, Stina Ramne, Ida Moltke, Marit Eika Jorgensen, Anders Albrechtsen, Torben Hansen, Mette K Andersen
Genetic Loss of Sucrase-Isomaltase Function: Mechanisms, Implications, and Future Perspectives. The application of clinical genetics 16 (2023)
Awol Mekonnen Ali, Haileyesus Adam, Daniel Hailu, Rawleigh Howe, Teferra Abula, Marieke J H Coenen
Evaluating the Frequencies of CNOT3, GRIA1, NFATC2 , and PNPLA3 Variant Alleles and Their Association with L-Asparaginase Hypersensitivity in Pediatric Acute Lymphoblastic Leukemia in Addis Ababa, Ethiopia. The application of clinical genetics 16 (2023)
Divyani Garg, Shekeeb Mohammad, Anju Shukla, Suvasini Sharma
Genetic Links to Episodic Movement Disorders: Current Insights. The application of clinical genetics 16 (2023)
Abraham Nigussie Mekuria, Tamrayehu Seyoum, Dawit Hailu Alemayehu, Markos Abebe, Teshome Nedi, Tefera Abula, Yun Yun Gong, Ephrem Engidawork
Copy Number Variation in the GSTM1 and GSTT1 Genes and the Risk of Liver Cirrhosis in Eastern Ethiopia. The application of clinical genetics 16 (2023)
Luis Fernando Sanchez-Espino, Marta Ivars, Javier Antoñanzas, Eulalia Baselga
Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache. The application of clinical genetics 16 (2023)
Amina Scherz, Susanna Stoll, Benno Rothlisberger, Manuela Rabaglio
A New de novo BRCA1 Mutation in a Young Breast Cancer Patient: A Case Report. The application of clinical genetics 16 (2023)
Rafał Patryn, Anna Zagaja, Mariola Drozd
Donor Safety, Discrepancies Between Practice and Theory: Analysis of the Polish Supreme Audit Office's Report. The application of clinical genetics 16 (2023)

volume 15, 2022

Christy L Pylypjuk, Shiza F Memon, Bernard N Chodirker
Utility of Measuring Fetal Cavum Septum Pellucidum (CSP) Width During Routine Obstetrical Ultrasound for Improving Diagnosis of 22q11.2 Deletion Syndrome: A Case-Control Study. The application of clinical genetics 15 (2022)
Naglaa S Elabd, Shimaa El-Shafey Soliman, Moamena S El-Hamouly, Suzy F Gohar, Ayman Elgamal, Mahmoud Magdy Alabassy, Haitham A Soliman, Abdelnaser A Gadallah, Osama D Elbahr, Ghada Soliman, Amany A Saleh
Long Non-Coding RNAs ASB16-AS1 and AFAP1-AS1: Diagnostic, Prognostic Impact and Survival Analysis in Colorectal Cancer. The application of clinical genetics 15 (2022)
Nhat Ngoc Nguyen, Ngoc Thao My Tran, Sang Trieutien, Son Vu Tung, Hoang Le, Hung Sy Ho, Tung Nguyen Thanh, The Son Trinh
Evaluating the Association Between Genetic Polymorphisms Related to Homocysteine Metabolism and Unexplained Recurrent Pregnancy Loss in Women. The application of clinical genetics 15 (2022)
Sebastian Giraldo-Ocampo, Rafael Adrian Pacheco-Orozco, Harry Pachajoa
A Novel POGZ Variant in a Patient with Intellectual Disability and Obesity. The application of clinical genetics 15 (2022)
Yuqi Yang, Yu Wang, Lingna Zhou, Wei Long, Bin Yu, Huaiyan Wang
Molecular Genetic Screening of Neonatal Intensive Care Units: Hyperbilirubinemia as an Example. The application of clinical genetics 15 (2022)
Safaa I Tayel, Shimaa E Soliman, Iman A Ahmedy, Mohamed Abdelhafez, Aly M Elkholy, Amira Hegazy, Nashwa M Muharram
Deregulation of CircANXA2, Circ0075001, and CircFBXW7 Gene Expressions and Their Predictive Value in Egyptian Acute Myeloid Leukemia Patients. The application of clinical genetics 15 (2022)
Alyssa M Volmrich, Lauren M Cuénant, Irman Forghani, Sharon L Hsieh, Lauren T Shapiro
ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy. The application of clinical genetics 15 (2022)
Magdalena Pasińska, Ewelina Łazarczyk, Anna Repczynska, Agnieszka Sobczyńska-Tomaszewska, Janusz Zimowski, Agata Runge, Olga Haus
Clinical Importance of aCGH in Genetic Counselling of Children with Psychomotor Retardation. The application of clinical genetics 15 (2022)
Victoriia V Zabnenkova, Olga A Shchagina, Olga Makienko, Galina Matyushchenko, Oxana P Ryzhkova
Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome. The application of clinical genetics 15 (2022)
null Soetjipto, Nur Rochmah, Muhammad Faizi, Yuni Hisbiyah, Anang Endaryanto
HLA-DQA1 and HLA-DQB1 Gene Polymorphism in Indonesian Children with Type I Diabetes Mellitus. The application of clinical genetics 15 (2022)
Werasak Sasanakul, Ampaiwan Chuansumrit, Nongnuch Sirachainan, Praguywan Kadegasem
Prominent Mutation of Intron 22 Inversion in Sporadic Hemophilia: Is It Worth the Antenatal Screening? The application of clinical genetics 15 (2022)
Natana Chaves Rabelo, Maria Eduarda Gomes, Isabelle de Oliveira Moraes, Juliana Cantagalli Pfisterer, Guilherme L Morais, Deborah Antunes, Ernesto Raul Caffarena, Juan Clinton Llerena, Sayonara Gonzalez
RASopathy Cohort of Patients Enrolled in a Brazilian Reference Center for Rare Diseases: A Novel Familial LZTR1 Variant and Recurrent Mutations. The application of clinical genetics 15 (2022)
Ampaiwan Chuansumrit, Werasak Sasanakul, Nongnuch Sirachainan, Suttikarn Santiwatana, Praguywan Kadegasem, Pakawan Wongwerawattanakoon, Noppawan Tangbubpha, Juthamard Chantaraamporn
Three-Decade Successive Establishment of Care for Women/Girls from Families with Haemophilia. The application of clinical genetics 15 (2022)
Martin H Maurer, Anja Kohler, Melanie Hudemann, Jerome Jüngling, Saskia Biskup, Martin Menzel
Case Report of a Juvenile Patient with Autism Spectrum Disorder with a Novel Combination of Copy Number Variants in ADGRL3 ( LPHN3 ) and Two Pseudogenes. The application of clinical genetics 15 (2022)
Hanna Moczulska, Michał Pietrusiński, Marcin Serafin, Beata Skoczylas, Dariusz Borowski, Maciej Borowiec
Prenatal Sonographic Features of Rare Chromosome 13 Aberrations. The application of clinical genetics 15 (2022)
Nur Rochmah, Muhammad Faizi, Suhasta Nova, Retno Asih Setyoningrum, Sukmawati Basuki, Anang Endaryanto
CTLA-4 CT-60 A/G and CTLA-4 1822 C/T Gene Polymorphisms in Indonesians with Type 1 Diabetes Mellitus. The application of clinical genetics 15 (2022)

volume 14, 2021

Connie H Miller
The Clinical Genetics of Hemophilia B (Factor IX Deficiency). The application of clinical genetics 14 (2021)
Kirsten B Dorschel, John E Wanebo
Genetic and Proteomic Contributions to the Pathophysiology of Moyamoya Angiopathy and Related Vascular Diseases. The application of clinical genetics 14 (2021)
Anne Marie Jelsig, Anna Byrjalsen, Majbritt Busk Madsen, Tine Plato Kuhlmann, Thomas van Overeem Hansen, Karin A W Wadt, John Gásdal Karstensen
Novel Genetic Causes of Gastrointestinal Polyposis Syndromes. The application of clinical genetics 14 (2021)
Fabio Coppedè
Mutations Involved in Premature-Ageing Syndromes. The application of clinical genetics 14 (2021)
Achmad Headriawan, Alvinsyah Adhityo Pramono, Abdurachman Sukadi, Alex Chairulfatah, Ani Melani Maskoen, Heda Melinda Nataprawira
NAT2 Gene rs1041983 is Associated with Anti-Tuberculosis Drug Induced Hepatotoxicity Among Pediatric Tuberculosis in Bandung, Indonesia. The application of clinical genetics 14 (2021)
Estephania Candelo, Maria Alejandra Estrada-Mesa, Adriana Jaramillo-Echeverry, Carlos Humberto Martinez-Cajas, Julio Cesar Osorio, Harry Pachajoa
The Oral Health of Patients with DiGeorge Syndrome (22q11) Microdeletion: A Case Report. The application of clinical genetics 14 (2021)
Ralph S Papas, William H Kutteh
Genetic Testing for Aneuploidy in Patients Who Have Had Multiple Miscarriages: A Review of Current Literature. The application of clinical genetics 14 (2021)
Bożena Kosztyła-Hojna, Jan Borys, Maciej Zdrojkowski, Emilia Duchnowska, Anna Kraszewska, Daria Wasilewska, Christiane Zweier, Alina Teresa Midro
Phoniatric, Audiological, Orodental and Speech Problems in a Boy with Cardio-Facio-Cutaneous Syndrome Type 3 (CFC 3) Due to a Pathogenic Variant in MAP2K1 - Case Study. The application of clinical genetics 14 (2021)