Case reports in genetics

Keyphrases

Publications

volume 2024, 2024

Daniel Arbide, Nour Elkhateeb, Ewa Goljan, Carolina Perez Gonzalez, Anna Maw, Soo-Mi Park
A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder. Case reports in genetics 2024 (2024)
Fiona Whitaker, Alvaro Serrano
Discovery of a Novel DYRK1A Mutation (c.524del) in Intellectual Development Disorder Autosomal Dominant 7 (MRD7): A Comprehensive Case Analysis. Case reports in genetics 2024 (2024)
Daigo Nishijo, Hiroki Yagi, Nana Akiyama, Norifumi Takeda, Masahiko Ando, Haruo Yamauchi, Norihiko Takeda, Issei Komuro
A De Novo Missense MYLK Variant Leading to Nonsyndromic Thoracic Aortic Aneurysm and Dissection Identified by Segregation Analysis. Case reports in genetics 2024 (2024)
Daniel Arbide, Nour Elkhateeb, Ewa Goljan, Carolina Perez Gonzalez, Anna Maw, Soo-Mi Park
A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder. Case reports in genetics 2024 (2024)
Gaoyan Grace Tang-Siegel, David W Maughan, Milah B Frownfelter, Alan R Light
Mitochondrial DNA Missense Mutations ChrMT: 8981A > G and ChrMT: 6268C > T Identified in a Caucasian Female with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) Triggered by the Epstein-Barr Virus. Case reports in genetics 2024 (2024)
Afia Hasnain, Laura L Thompson, Nicole L Hoppman, Karine Hovanes, Jing Liu, Bita Hashemi
Constitutional Chromothripsis on Chromosome 2: A Rare Case with Severe Presentation. Case reports in genetics 2024 (2024)
Solaleh Aminian, Fawaz Al-Alloosh, Fatemeh Yadegari, Shiva Zarinfam, Haider Hamza Al-Abedi, Keivan Majidzadeh-A
Quadruple Primary Malignancies over 2 Years with Germline Mutation in Krebs Cycle Enzyme Gene Fumarate Hydratase. Case reports in genetics 2024 (2024)
Osama Obaid, Reem Batawi, Heba Alqurashi, Thana Ewis, Ahmad A Obaid
Bilateral Glaucoma as Possible Additional Feature for PGAP3 -Associated Hyperphosphatasia. Case reports in genetics 2024 (2024)
Solaleh Aminian, Fawaz Al-Alloosh, Fatemeh Yadegari, Shiva Zarinfam, Haider Hamza Al-Abedi, Keivan Majidzadeh-A
Quadruple Primary Malignancies over 2 Years with Germline Mutation in Krebs Cycle Enzyme Gene Fumarate Hydratase. Case reports in genetics 2024 (2024)
Surasak Puvabanditsin, Ian Lee, Natasha Cordero, Keisha Target, Su Young Park, Rajeev Mehta
A Fatal Case of 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency in a Term Infant with Severe High Anion Gap Acidosis and Review of the Literature. Case reports in genetics 2024 (2024)
Daigo Nishijo, Hiroki Yagi, Nana Akiyama, Norifumi Takeda, Masahiko Ando, Haruo Yamauchi, Norihiko Takeda, Issei Komuro
A De Novo Missense MYLK Variant Leading to Nonsyndromic Thoracic Aortic Aneurysm and Dissection Identified by Segregation Analysis. Case reports in genetics 2024 (2024)
Afia Hasnain, Laura L Thompson, Nicole L Hoppman, Karine Hovanes, Jing Liu, Bita Hashemi
Constitutional Chromothripsis on Chromosome 2: A Rare Case with Severe Presentation. Case reports in genetics 2024 (2024)
Gaoyan Grace Tang-Siegel, David W Maughan, Milah B Frownfelter, Alan R Light
Mitochondrial DNA Missense Mutations ChrMT: 8981A > G and ChrMT: 6268C > T Identified in a Caucasian Female with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) Triggered by the Epstein-Barr Virus. Case reports in genetics 2024 (2024)
Osama Obaid, Reem Batawi, Heba Alqurashi, Thana Ewis, Ahmad A Obaid
Bilateral Glaucoma as Possible Additional Feature for PGAP3 -Associated Hyperphosphatasia. Case reports in genetics 2024 (2024)
Yifei Xu, Yuki Tsurinaga, Tsubasa Matsumoto, Ryuji Muta, Taichi Yano, Hiroshi Sakaida, Sawako Masuda, Koki Ueda, Guofei Feng, Shimpei Gotoh, Satoru Ogawa, Makoto Ikejiri, Kaname Nakatani, Mizuho Nagao, Masaki Tanabe, Kazuhiko Takeuchi
Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in Oral-Facial-Digital Syndrome Gene, OFD1 . Case reports in genetics 2024 (2024)
Inusha Panigrahi, Sudha Rao, Shalu Verma Kumar, Divya Kumari, Parminder Kaur
Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India. Case reports in genetics 2024 (2024)
Yifei Xu, Yuki Tsurinaga, Tsubasa Matsumoto, Ryuji Muta, Taichi Yano, Hiroshi Sakaida, Sawako Masuda, Koki Ueda, Guofei Feng, Shimpei Gotoh, Satoru Ogawa, Makoto Ikejiri, Kaname Nakatani, Mizuho Nagao, Masaki Tanabe, Kazuhiko Takeuchi
Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in Oral-Facial-Digital Syndrome Gene, OFD1 . Case reports in genetics 2024 (2024)
Kyriaki Papadopoulou-Legbelou, Maria Ntoumpara, Maria Kavga, Eleni P Kotanidou, Ioannis Papoulidis, Assimina Galli-Tsinopoulou, Maria Fotoulaki
Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome. Case reports in genetics 2024 (2024)
Madeline Snipes, Stephanie Stokes, Amy Vidalin, Lee D Moore, Natalia Schlabritz-Lutsevich, James Maher
Phenotype-Genotype Discordance and a Case of a Disorder of Sexual Differentiation. Case reports in genetics 2024 (2024)
Fiona Whitaker, Alvaro Serrano
Discovery of a Novel DYRK1A Mutation (c.524del) in Intellectual Development Disorder Autosomal Dominant 7 (MRD7): A Comprehensive Case Analysis. Case reports in genetics 2024 (2024)
Surasak Puvabanditsin, Ian Lee, Natasha Cordero, Keisha Target, Su Young Park, Rajeev Mehta
A Fatal Case of 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency in a Term Infant with Severe High Anion Gap Acidosis and Review of the Literature. Case reports in genetics 2024 (2024)
Kyriaki Papadopoulou-Legbelou, Maria Ntoumpara, Maria Kavga, Eleni P Kotanidou, Ioannis Papoulidis, Assimina Galli-Tsinopoulou, Maria Fotoulaki
Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome. Case reports in genetics 2024 (2024)

volume 2023, 2023

Emilio Israel Wong-Valenzuela, Daniel San Juan, José Santos-Zambrano, Alejandra Camacho Molina, Miguel Angel Morales-Morales, Alejandro Lopez-Landa
Recurrent Ischemic Strokes due to Monogenic COL4A1 Mutation: The First Case Report from Latin America. Case reports in genetics 2023 (2023)
Hossein Jalali, Mahan Mahdavi, Mohammad Eslamijouybari, Mohammad Reza Mahdavi Amiri
Coinheritance of the c.-19 G > C and c.315 + 1 G > A Variants in the β -Globin Gene Leads to Thalassemia Disease: A Report from the North of Iran. Case reports in genetics 2023 (2023)
Michael Gibbs, Alysa Poulin, Yanwei Xi, Bita Hashemi
A Prenatal Presentation of CDK13-Related Disorder with a Novel Pathogenic Variant. Case reports in genetics 2023 (2023)
Molly M Crenshaw, Sharon L Graw, Dobromir Slavov, Theresa A Boyle, Daniel G Piqué, Matthew R G Taylor, Peter Baker
An Atypical 15q11.2 Microdeletion Not Involving SNORD116 Resulting in Prader-Willi Syndrome. Case reports in genetics 2023 (2023)
Palanikumar Balasundaram, Indirapriya Darshini Avulakunta, Leslie Delfiner, Paul Levy, Katie R Forman
Novel TTN Mutation Causing Severe Congenital Myopathy and Uncertain Association with Infantile Hydrocephalus. Case reports in genetics 2023 (2023)
Yu Han, Jiebin Wu, Fangfang Tan, Jing Sha, Bei Zhang, Jingfang Zhai, Xuezhen Wang
45, X/ 46, X, psu idic (Y) (q11.2) Mosaicism in a Primary Amenorrhea Girl with Swyer Syndrome. Case reports in genetics 2023 (2023)
Elizaveta Makarova, Nicole R Legro, Ermal Aliu
A Case of Congenital Hypotonia and Developmental Delay in an Individual with a De Novo Variant Outside of the Canonical HX-Motif of ATN1. Case reports in genetics 2023 (2023)
Helle Høyer, Ola Nakken, Trygve Holmøy
A Novel SPAST Variant Associated with Isolated Spastic Paraplegia. Case reports in genetics 2023 (2023)
Melissa A Hicks, Salah Ebrahim, Bernard Gonik
Prenatal Lethal Diagnosis of 8p23.1 Duplication Syndrome Associated with Omphalocele and Encephalocele. Case reports in genetics 2023 (2023)
Yukino Kawanami, Tomoko Horinouchi, Naoya Morisada, Takeshi Kato, Kandai Nozu
4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay. Case reports in genetics 2023 (2023)
Yukino Kawanami, Tomoko Horinouchi, Naoya Morisada, Takeshi Kato, Kandai Nozu
4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay. Case reports in genetics 2023 (2023)
Alessia Mingarelli, Giovanni Battista Pipitone, Giacomo Torini, Maria Grazia Patricelli, Martina Totaro, Clara Colonna, Paola Carrera, Federico Raviglione
Behavioral Phenotype, Electroclinical Features, and Treatment Options in Twins with Lrp2 Candidate Variants (Donnay-Barrow/Foar Syndrome). Case reports in genetics 2023 (2023)
Yu Han, Jiebin Wu, Fangfang Tan, Jing Sha, Bei Zhang, Jingfang Zhai, Xuezhen Wang
45, X/ 46, X, psu idic (Y) (q11.2) Mosaicism in a Primary Amenorrhea Girl with Swyer Syndrome. Case reports in genetics 2023 (2023)
Melissa A Hicks, Salah Ebrahim, Bernard Gonik
Prenatal Lethal Diagnosis of 8p23.1 Duplication Syndrome Associated with Omphalocele and Encephalocele. Case reports in genetics 2023 (2023)
Maria Arvio, Jaana Lähdetie, Hannu Koivu, Antti Sohlberg, Eero Pekkonen
Manifestations of Intellectual Disability, Dystonia, and Parkinson's Disease in an Adult Patient with ARX Gene Mutation c.558_560dup p.(Pro187dup). Case reports in genetics 2023 (2023)
Luna Bajracharya, Meena Lall, Sunita Bijarnia Mahay, Praveen Kumar, Imran Mushtaq, Pushpa Saviour, Preeti Paliwal, Anju Joshi, Shruti Agarwal, Praveen Suman
A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication with Autism Spectrum Disorder and Dyskinesia. Case reports in genetics 2023 (2023)
Khaliunaa Bayanbold, Georgianne Younger, Benjamin W Darbro, Alpa Sidhu
Mosaicism in BRPF1 -Related Neurodevelopmental Disorder: Report of Two Sisters and Literature Review. Case reports in genetics 2023 (2023)
Melissa A Hicks, Emilie Lalonde, Jessica Zoladz, Bernard Gonik, Salah Ebrahim
A Diagnosis of Maternal 22q Duplication and Mosaic Deletion following Prenatal Cell-Free DNA Screening. Case reports in genetics 2023 (2023)
Maria Arvio, Jaana Lähdetie, Hannu Koivu, Antti Sohlberg, Eero Pekkonen
Manifestations of Intellectual Disability, Dystonia, and Parkinson's Disease in an Adult Patient with ARX Gene Mutation c.558_560dup p.(Pro187dup). Case reports in genetics 2023 (2023)
Helle Høyer, Ola Nakken, Trygve Holmøy
A Novel SPAST Variant Associated with Isolated Spastic Paraplegia. Case reports in genetics 2023 (2023)
Kousar Jahan Syeeda Khursheed, Mohammed Rahman Kaleemullah, Annu Joseph, Mohammed Hasan Al Durazi, Moiz Bakhiet
A Rare 46,X,t(Y;10)(q12;p14) Balanced Translocation in Non-Obstructive Azoospermic Patient with Elevated FSH and LH Levels. Case reports in genetics 2023 (2023)
Elizaveta Makarova, Nicole R Legro, Ermal Aliu
A Case of Congenital Hypotonia and Developmental Delay in an Individual with a De Novo Variant Outside of the Canonical HX-Motif of ATN1. Case reports in genetics 2023 (2023)

volume 2022, 2022

Frouzandeh Mahjoubi, Samira Shabani, Sogand Khakbazpour, Aylar Khaligh Akhlaghi
Novel EPG5 Mutation Associated with Vici Syndrome Gene. Case reports in genetics 2022 (2022)
Jordan H Driskill, Helena Hwang, Alexandra K Callan, Dwight Oliver
Case Report of Fibro-Adipose Vascular Anomaly (FAVA) with Activating Somatic PIK3CA Mutation. Case reports in genetics 2022 (2022)
Maha Saleh, Samantha Colaiacovo, Melanie P Napier, Asuri N Prasad, C Anthony Rupar, Chitra Prasad
Pitfalls in Genetic Testing for Consanguineous Pediatric Populations. Case reports in genetics 2022 (2022)
Zul Qarnain, Fatima Khan, Fizza Akbar, Salman Kirmani
Novel Homozygous TTI2 Variant Causing Autosomal Recessive Syndromic Intellectual Disability and Primary Microcephaly from Pakistan: A Case Report (Exome Report). Case reports in genetics 2022 (2022)
Rhea Camille R Yumul, Mary Anne D Chiong
Rubinstein-Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant. Case reports in genetics 2022 (2022)
Shir Wey Gloria Pang, Hencher Han-Chih Lee, Carol Wing-Kei Ng, Eric Kin Cheong Yau, Joannie Hui
Kearns-Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad. Case reports in genetics 2022 (2022)