Case reports in genetics

Keyphrases

Publications

volume 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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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

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)
Kosei Hasegawa, Hiroyuki Tanaka, Natsuko Futagawa, Hiroyuki Miyahara, Hirokazu Tsukahara
Rapid Progression of Heterotopic Ossification in Severe Variant of Fibrodysplasia Ossificans Progressiva with p.Arg258Gly in ACVR1: A Case Report and Review of Clinical Phenotypes. Case reports in genetics 2022 (2022)
Julie Fischer, Luis Rohena
Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding. Case reports in genetics 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)
Hyelin You, David I Sierpina
A Novel Pathogenic Variant in the RDH5 Gene in a Patient with Fundus Albipunctatus and Severe Macular Atrophy. Case reports in genetics 2022 (2022)
Yanjie Qian, Xiaoying Wang, Wei Tang, Chao-Chun Zou
Microdeletion of 4p16.2 in Children: A Case Report and Literature Review. Case reports in genetics 2022 (2022)
Jiyoung Kim, Angela Pipitone Dempsey, Sun Young Kim, Meral Gunay-Aygun, Hilary J Vernon
An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine. Case reports in genetics 2022 (2022)
Hongyan Chai, Fang Xu, Autumn DiAdamo, Brittany Grommisch, Huanzhi Mao, Peining Li
Cytogenomic Characterization of Giant Ring or Rod Marker Chromosome in Four Cases of Well-Differentiated and Dedifferentiated Liposarcoma. Case reports in genetics 2022 (2022)
Amal Al-Naimi, Haneen Toma, Sara G Hamad, Tawfeg Ben Omran
Farber Disease Mimicking Juvenile Idiopathic Arthritis: The First Reported Case in Qatar and Review of the Literature. Case reports in genetics 2022 (2022)
Krishna Gundabolu, Bhavana J Dave, Carmelita J Alvares, Jeffrey J Cannatella, Vijaya R Bhatt, Lori J Maness, Zaid S Al-Kadhimi, Rana K Zabad, Allison M Cushman-Vokoun
The Missing LNK: Evolution from Cytosis to Chronic Myelomonocytic Leukemia in a Patient with Multiple Sclerosis and Germline SH2B3 Mutation. Case reports in genetics 2022 (2022)
Monica Furlano, Elisabet Ars, Anna Matamala, Vicens Brossa, Joan Martí-Fàbregas, María Del Prado Venegas, Jaume Crespi, Esther Roe, Roser Torra
The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease. Case reports in genetics 2022 (2022)
Monica Furlano, Elisabet Ars, Anna Matamala, Vicens Brossa, Joan Martí-Fàbregas, María Del Prado Venegas, Jaume Crespi, Esther Roe, Roser Torra
The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease. Case reports in genetics 2022 (2022)
Fatemeh Tahghighi, Mahdieh Vahedi, Nima Parvaneh, Mohammad Shahrooei, Vahid Ziaee
The Efficacy of Anti-Tumor Necrosis Factor Therapy in Cryopyrin-Associated Periodic Syndromes: A Report of Two Cases. Case reports in genetics 2022 (2022)
Akihiro Kirimura, Hajime Yasuhara, Soshi Hachisuka, Kumiko Takagi, Reiko Ebisu, Ayako Ohgitani, Hideki Minowa
A Neonatal Patient Diagnosed with a COL4A1 Mutation Presenting with Hemorrhagic Infarction and Severe Jaundice. Case reports in genetics 2022 (2022)
Mahpara Hasan, Gayatra Mainali, Ermal Aliu, Sita Paudel
A Case of Autosomal Recessive Intellectual Developmental Disorder Type 5 Presenting with Epilepsy. Case reports in genetics 2022 (2022)
Hossein Esmaeilzadeh, Rafat Noeiaghdam, Leila Johari, Seyed Ali Hosseini, Sayyed Hesamedin Nabavizadeh, Soheila Sadat Alyasin
Homozygous Autosomal Recessive DIAPH1 Mutation Associated with Central Nervous System Involvement and Aspergillosis: A Rare Case. Case reports in genetics 2022 (2022)
Dinusha Pandithan, Sonja Klebe, Grace McKavanagh, Lesley Rawlings, Sui Yu, Jillian Nicholl, Nicola K Poplawski
BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion. Case reports in genetics 2022 (2022)
Rafat Mohammed Mosalli, Alfia Fatma, Mohammed A Almatrafi, Mayada Mazroua, Bosco Paes
De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome. Case reports in genetics 2022 (2022)
Jonas A Gustafson, Maria Bjork, Conny M A van Ravenswaaij-Arts, Michael L Cunningham
Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis. Case reports in genetics 2022 (2022)

volume 2021, 2021

Jinjie Li, Yue Zhang, Yan-Jun Diao, Rui Li, Liqing Jiang, Lei Zhou, Jiayun Liu, Weixun Duan, Liu Yang
A De Novo sSMC (22) Characterized by High-Resolution Chromosome Microarray Analysis in a Chinese Boy with Cat-Eye Syndrome. Case reports in genetics 2021 (2021)
Christopher S Hong, Edwin Partovi, James Clune, Anita Huttner, Henry S Park, Sacit Bulent Omay
Genomic Characterization of Radiation-Induced Intracranial Undifferentiated Pleomorphic Sarcoma. Case reports in genetics 2021 (2021)
Jamie H Choi, Rachel Li, Rachel Gannaway, Tahnee N Causey, Anna Harrison, Natario L Couser
Corrigendum #2 to "Eye Manifestations of Shprintzen-Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review". Case reports in genetics 2021 (2021)
Parminder Kaur, Inusha Panigrahi, Harleen Kaur, Thakurvir Singh, Chakshu Chaudhry
Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians. Case reports in genetics 2021 (2021)
Hao Trong Nguyen, Nguyen Nhat Pham, Hoang Anh Vu, Tu Nguyen Anh Tran
The First Vietnamese Patient of LEOPARD Syndrome due to a PTPN11 Mutation: A Case Report and Review of the Literature. Case reports in genetics 2021 (2021)
Li Xu, Zijuan Peng, Chunhui Zhou, Jiqing Wang, Hunjin Luo, Qin Lu, Zhengjun Bao
A Chinese Patient with Spastic Paraplegia Type 4 with a De Novo Mutation in the SPAST Gene. Case reports in genetics 2021 (2021)
Bereket F Yismaw, Seblewongel Desta
Delayed Diagnosis of McCune-Albright Syndrome. Case reports in genetics 2021 (2021)