DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

eFirst

Publication Date: 02 August 2022

Case-Based Review

Publication Date: 12 July 2022

Original Article

Sait, Haseena; Srivastava, Somya; Kumar, Somesh; Varughese, Bijo; Pandey, Manmohan; Venkatramaiah, Manjunath; Chaudhary, Parul; Moirangthem, Amita; Mandal, Kausik; Kapoor, Seema: Inborn Errors of Ketogenesis: Novel Variants, Clinical Presentation, and Follow-Up in a Series of Four Patients

Publication Date: 11 July 2022

Publication Date: 27 June 2022

Original Article

Publication Date: 15 June 2022

Publication Date: 20 May 2022

Case-Based Review

Abdelrahman, Hanadi A.; Akawi, Nadia; Al-Shamsi, Aisha M.; Al-Gazali, Lihadh; Ali, Bassam R.: Pontocerebellar Hypoplasia Type 9: A New Case with a Novel Mutation and Review of Literature

Publication Date: 05 May 2022

Case-Based Review

Singanamalla, Bhanudeep; Paria, Pradip; Suthar, Renu; Saini, Arushi G.; Attri, Savita V.: The Challenge of Severe Acute Malnutrition in Inborn Errors of Metabolism: Does Medical Food Alone Suffice?

Publication Date: 02 May 2022

Case-Based Review

Original Article

Machado, Roberta Ismael Lacerda; Souza, Paulo Victor Sgobbi de; Farias, Igor Braga; Badia, Bruno de Mattos Lombardi; Filho, José Marcos Vieira de Albuquerque; Lima, Ricello José Vieira; Pinto, Wladimir Bocca Vieira de Rezende; Oliveira, Acary Souza Bulle: Clinical and Genetic Aspects of Childhood-Onset Demyelinating Charcot–Marie–Tooth's Disease in Brazil

Publication Date: 10 February 2022

Original Article

Akin-Bali, Dilara Fatma; Doganay Erdogan, Beyza; Aslar Oner, Deniz; Mahmud, Akkan; Tasdelen, Serpil; Kurekci, Emin; Akar, Nejat; Ozdag Sevgili, Hilal: Genetic Profiling of Pediatric Patients with B-Cell Precursor Acute Lymphoblastic Leukemia

Publication Date: 12 January 2022

Case Report

Chidambaram, Aakash Chandran; Sugumar, Kiruthiga; Sundaravel, Selvamanojkumar; Ramamoorthy, Jaikumar Govindaswamy; Bathula, Siddardha; Dutta, Usha R.: Recurrent Skin Ulcers with Facial Dysmorphism and Sinopulmonary Infections: Thinking Beyond Hyper-IgE Syndrome

Publication Date: 07 January 2022

Original Article

Gowda, Vykuntaraju K.; Raj, Anusha; Vamyanmane, Dhananjaya K; Nagarajappa, Vani H.; Srinivas, Sahana M.; Tirumale, Rajalakshmi; Ranganath, Jaya; Gaddehosur, Chandan; Vishwanathan, Gurudatta B.: Recurrent Bilateral Lower Motor Neuron Type of Facial Palsy with Hearing Impairment: Hyperphosphatemic Familial Tumoral Calcinosis

Original Article

Prapasrat, Chanita; Onsod, Preyaporn; Korkiatsakul, Veerawat; Rerkamnuaychoke, Budsaba; Wattanasirichaigoon, Duangrurdee; Chareonsirisuthigul, Takol: The Utilization of MS-MLPA as the First-Line Test for the Diagnosis of Prader–Willi Syndrome in Thai Patients

Publication Date: 06 January 2022

Case-Based Review

Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Reddy, Varsha M.; Vamyanmane, Dhananjaya K.; Shivappa, Sanjay K.; Ramesh, Rohih H.; Vishwanathan, Gurudatta B.: Compressive Myelopathy Secondary to TRPV4 Skeletal Dysplasia: Spondylometaphyseal Dysplasia, Kozlowski Type

Publication Date: 24 December 2021

Case-Based Review

Publication Date: 14 December 2021

Case-Based Review

Gosadi, Ghadah; Busehail, Maryam; Rahbeeni, Zuhair: Alstrom's Syndrome: An Experience of Tertiary Care Center

Publication Date: 13 December 2021

Case-Based Review

Ipek, Rojan; Bozdogan, Sevcan Tug; Kömür, Mustafa; Okuyaz, Cetin: A Novel Mutation Diagnosing in Allan–Herndon–Dudley's Syndrome

Publication Date: 10 December 2021

Case-Based Review

Ilhan, Ozkan; Gumus, Evren; Hakan, Nilay; Istar, Hande; Harmandar, Bugra; Olgun, Hasim; Karakus, Suleyman Cuneyt; Cullu, Nesat; Kohlhase, Juergen; Sutherland, James D.; Barrio, Rosa: A Genotyped Case of Townes–Brocks Syndrome with Absent Pulmonary Valve Syndrome from Turkey

Publication Date: 06 December 2021

Original Article

Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Jetha, Kapil; Sugumar, Kiruthiga; Bhat, Meenakshi; Shivappa, Sanjay K.; Bhat, Maya; Christopher, Rita: Case Series of Ethylmalonic Encephalopathy from Southern India

Publication Date: 16 November 2021

Case-Based Review

Publication Date: 11 November 2021

Case-Based Review

de Souza, Mateus A.; Hartmann, Jéssica K.; Zottis, Laira F. F.; Gama, Thiago K. K.; Rosa, Ernani B. da; Zen, Paulo R. G.; Rosa, Rafael F. M.: Laryngotracheomalacia in a Patient with Mosaic Trisomy 8

Publication Date: 09 November 2021

Case-Based Review

Case-Based Review

Geiculescu, Irina; Saxonhouse, Matthew A.; Demmer, Laurie; Sutsko, Ronald; Cosper, Graham; Jones, James E.: Matthew-Wood Syndrome in Monochorionic, Diamnionic Twins

Original Article

Gowda, Vykuntaraju K.; Srinivas, Sahana M.; Gupta, Priya; Srinivasan, Varunvenkat M.; Shivappa, Sanjay K.; Vishwanathan, Gurudatta B.: Infantile Systemic Hyalinosis Presenting as Pseudo-Paralysis in Infancy: Study of Six Cases

Publication Date: 02 November 2021

Case Based Review

Publication Date: 29 October 2021

Original Article

Publication Date: 25 October 2021

Case Based Review

de Brito Chagas, Joana; Cordinhã, Carolina; do Carmo, Carmen; Alves, Cristina; Heath, Karen E.; Sousa, Sérgio B.; Gomes, Clara: Vitamin D-Dependent Rickets Type 1A in Two Siblings with a Hypomorphic CYP27B1 Variant Frequent in the African Population

Publication Date: 19 October 2021

Original Article

Lin, Grace; Wei, Heming; Lai, Angeline H. M.; Tan, Ee-Shien; Lim, Jiin Ying; Cham, Breana; Ling, Simon; Jamuar, Saumya S.; Tan, Ene-Choo: Novel Variants and Clinical Characteristics of 16 Patients from Southeast Asia with Genetic Variants in Neurofibromin-1

Publication Date: 08 October 2021

Publication Date: 31 August 2021

Case Based Review

Jain, Geetanjali; Das, Gourab; Malhotra, Rakhi; Ramchandran, Sateesh; Phani, Nagaraja M.; Appaswamy, Giridharan; Sridharan, Upasana; Dwivedi, Aradhana: Hypomagnesemia with Secondary Hypoparathyroidism and Hypocalcemia due to Novel Variants in the Transient Receptor Potential Cation Channel Subfamily M Member 6 (TRPM6) Gene

Publication Date: 20 August 2021

Case Based Review

Candelaria, Gabriela de Toledo Passos; Antunes, Alexandre de A.; Pastorino, Antonio C.; Dorna, Mayra de B.; Zanardo, Evelin A.; Dias, Alexandre T.; Sugayama, Sofia M. M.; Odone-Filho, Vicente; Kulikowski, Leslie D.; Garanito, Marlene P.: Novel FERMT3 and PTPRQ Mutations Associated with Leukocyte Adhesion Deficiency-III and Sensorineural Hearing Loss

Publication Date: 17 August 2021

Case Based Review

Lin, Hong T.; Gupta, Anita; Bove, Kevin E.; Szabo, Sara; Xu, Fang; Krentz, Anthony; Shillington, Amelle L.: Novel Pathogenic DNAH5 Variants in Primary Ciliary Dyskinesia: Association with Visceral Heterotaxia and Neonatal Cholestasis

Publication Date: 29 July 2021

Case Based Review

Case Based Review

Sharma, Sonia; Gupta, Shailesh; Mehta, A. P.; Sidana, Poonam: Infantile Galactosialidosis with Novel Mutation: An Early Presentation

Publication Date: 28 July 2021

Case-Based Review

Chaudhry, Chakshu; Kumari, Divya; Panigrahi, Inusha; Kaur, Parminder: Chromosome 1p36 Deletion Syndrome: Four Patients with Variable Presentations

Publication Date: 26 July 2021

Case Based Review

Cammarata-Scalisi, Francisco; Matysiak, Uta; Willoughby, Colin E.; Ruzaike, Gunda; Cárdenas Tadich, Antonio; Araya Castillo, Maykol; Zara-Chirinos, Carmen; Bracho, Ana; Avendaño, Andrea; Jilani, Houweyda; Callea, Michele: A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1

Original Article

Panigrahi, Inusha; Bhatt, Yogita; Malik, Shivani; Kaur, Parminder; Kaur, Anupriya: Clinical Profile of Indian Children with Down Syndrome

Publication Date: 22 July 2021

Original Article

Ramos-Mejía, Rosario; Monterroza-Quintana, Francisco; Primomo, Claudio; Goyeneche, Rodolfo; Fano, Virginia: Acetabular Protrusion in a Cohort of Patients with Osteogenesis Imperfecta Evaluated in a Pediatric Hospital

Publication Date: 19 July 2021

Case Based Review

Sturgis, Morgan R.; Wrobel, Kathryn E.; Bosco, Gianna N.; Jones, Carolyn H.: Utility of Neonatal Findings in Early Diagnosis of a Case of Haberland Syndrome

Publication Date: 07 July 2021

Original Article

Publication Date: 03 July 2021

Case Based Review

Singanamalla, Bhanudeep; Kesavan, Shivan; Aggarwal, Divya; Chatterjee, Debajyoti; Urtizberea, Andoni; Suthar, Renu: Marked Facial Weakness, Ptosis, and Hanging Jaw: A Case with RYR1-Related Congenital Centronuclear Myopathy

Publication Date: 26 June 2021

Case-Based Review

Xia, Changqing; Kumar, Dibyendu; You, Bei; Streck, Deanna L.; Osborne, Lisa; Dermody, James; Jiang, Jie-Gen; Pletcher, Beth A.: Wolf-Hirschhorn Syndrome with Hyperparathyroidism: A Case Report and a Narrative Review of the Literature

Publication Date: 22 June 2021

Original Article

Gowda, Vykuntaraju K.; Battina, Manojna; Vegda, Hemadri; Srinivasan, Varunvenkat M.; Chikara, Surendra K.; Mishra, Adrija; Shivappa, Sanjay K.; Benakappa, Naveen: Cohort of Phenotype, Genotype, and Outcome of SCN Developmental and Epileptic Encephalopathies from Southern Part of India

Publication Date: 11 June 2021

Publication Date: 01 June 2021

Case-Based Review

Carvalho, Andreia; Costa, Carmen; Pinto, Miguel; Taipa, Ricardo; Gonçalves, Ana; Oliveira, Márcia E.; Ferreira, Sofia; Ribeiro, Joana Afonso: X-Linked Myotubular Myopathy: A Novel Mutation Expanding the Genotypic Spectrum of a Phenotypically Heterogeneous Myopathy

Case-Based Review

Kapoor, Ravi; Thakur, Seema; Kapoor, Aakar; Kapoor, Sunita; Kalra, Apurva; Kapoor, Aakriti: Neu–Laxova's Syndrome: A Case Report of a Fetus with Novel Mutation in PHGDH Gene and a Literature Review

Case-Based Review

Poon, Kok-Siong; Tan, Karen Mei-Ling; Zacharin, Margaret; Ho, Cindy Wei-Li: A De Novo Mosaic PHEX Variant Causing Sporadic X-Linked Hypophosphatemic Rickets in a 2-Year-Old Girl

Original Article

Salah, Nouran Y.; Ali, Heba G. A.; Bassiouny, Noha; Salem, Lamya; Taha, Sara I.; Youssef, Mariam K.; Annaka, Layla; Barakat, Noha M.: BCL11A Polymorphism in Egyptian Children with β-Thalassemia: Relation to Phenotypic Heterogeneity

Publication Date: 14 April 2021

Case Based Review

Palma, Carmen; Patricia, Pérez Mohand; Lezana, José M.; Cruz, Jaime; Quesada, Juan F.; Vila, Sara; Álvarez-Mora, Isabel; Arteche-López, Ana; Gómez-Manjón, Irene; Sánchez, M. Teresa; Gómez-Rodríguez, Maria José; Sánchez, Jaime; Moreno-García, Marta: A Novel Pathogenic Variant in the MN1 Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome

Case-Based Review

Cervera-Gaviria, Marivi; Enterría-Rosales, Julia; Juárez-Vignon-Whaley, Juan José; García-Sánchez, Julián; Treviño-Velasco, Rodrigo; Cervera-Gaviria, Jaime: Novel Radiological Brain Anomalies in a Patient with Congenital Muscular Dystrophy due to FKRP Mexican Founder Mutation c.1387A > G: Review of the Literature

Case-Based Review

Gunes, Sevinc Odabasi; Calisici, Erhan; Arslan, Mutluay; Akin, Onur; Karagol, Belma Saygili: Transient Neonatal Diabetes Mellitus and Seizure with an Unknown Etiology

Original Article

Original Article

Murakami, Kohei; Kikugawa, Shingo; Seki, Shoji; Terai, Hidetomi; Suzuki, Takako; Nakano, Masaki; Takahashi, Jun; Nakamura, Yukio: Exome Sequencing Reveals De Novo Variants in Congenital Scoliosis

Original Article

Panigrahi, Inusha; Kaur, Parminder; Chaudhry, Chakshu; Shariq, Mohd; Naorem, Devika D.; Gowtham, BC; Kaur, Anupriya; Dayal, Devi: Short Stature Syndromes: Case Series from India

Publication Date: 12 April 2021

Publication Date: 01 April 2021

Case Report

Parravicini, Stefano; Pasca, Ludovica; Zanaboni, Martina Paola; Varesio, Costanza; Rognone, Elisa; Totaro, Martina; Gana, Simone; Rossi, Elena; De Giorgis, Valentina: Electroclinical Improvement in a Patient with Ring Chromosome 20 Syndrome Treated with Zonisamide: A Case Report

Original Article

Nascimento, Cristian Rodrigues do; Basílio, Dyowani dos Santos; Lopes, Johnnatas Mikael; Cansanção, Isaac Farias: Analyzing Inbreeding and Estimating Its Related Deficiencies in Northeastern Brazil

Publication Date: 10 March 2021

Original Article

Bhat, Maya Dattatraya; Manjunath, Netravathi; Kumari, Renu; Faruq, Mohammed; Pal, Pramod Kumar; Prasad, Chandrajit; Mundlamuri, Ravindranadh Chowdary; Nalini, Atchayaram; Udupi, Gautham Arunachal; Baishya, Priyanka Priyadarshini; Kulanthaivelu, Karthik: Cribriform Appearance of White Matter in Canavan Disease Associated with Novel Mutations of ASPA Gene

Publication Date: 03 March 2021

Case Based Review

Rivera-Sepulveda, Andrea; Colón-Fontánez, Francisco; López, Maricarmen; Puig-Ramos, Gilberto: Deficiency of Interleukin-1 Receptor Antagonist: New Genetic Autoinflammatory Disease as a Diagnostic Challenge for Pediatricians

Original Article

Dawman, Lesa; Tiewsoh, Karalanglin; Barman, Prabal; Pratyusha, Kambagiri; Chaakchhuak, Lalawmpuia; Sharawat, Indar Kumar: Phenotype and Genotype Profile of Children with Primary Distal Renal Tubular Acidosis: A 10-Year Experience from a North Indian Teaching Institute

Publication Date: 25 February 2021

Case-Based Review

Mirza, Nida; Upadhyaya, Sundeep; Mehta, Sagar; Malhotra, Smita; Sibal, Anupam: Esophageal Stricture and Dermal Pathology Related to Compound Heterozygous Mutations in the TNXB Gene

Publication Date: 19 February 2021

Case Report

Nieto-Barcelo, Juan Jose; Gonzalez Montes, Noelia; Gonzalo Alonso, Isabel; Martinez, Francisco; Aparisi, Maria Jose; Martinez-Matilla, Marina; Marco Hernandez, Ana Victoria; Tomás Vila, Miguel: Variant in CACNA1G as a Possible Genetic Modifier of Neonatal Epilepsy in an Infant with a De Novo SCN2A Mutation

Original Article

Kaur, Harvinder; Bhalla, Anil Kumar; Panigrahi, Inusha: Percentile Charts for Body Mass Index of Indian Down Syndrome Children

Original Article

Publication Date: 17 February 2021

Case Based Review

Publication Date: 11 February 2021

Original Article

Eldem, Aslı; Ayna, Tülay Kılıçaslan; Baran, Maşallah; Soyöz, Mustafa; Pirim, İbrahim: Determination of High-Resolution HLA-DQB1 Suballeles and IL-17 Polymorphisms in Turkish Pediatric Patients

Research Paper

Publication Date: 09 February 2021

Original Article

Singh, Akanksha; Singh, Ankur; Mishra, Om Prakash; Prasad, Rajniti; Narayan, Gopeshwar; Batra, Vineeta V; Tabatabaeifar, Mansoureh; Schaefer, Franz: Molecular Study of Childhood Steroid-Resistant Nephrotic Syndrome: A Hospital-Based Study

Publication Date: 02 February 2021

Case Report

Case Report

Somarajan, Bindu I.; Gupta, Shikha; Mahalingam, Karthikeyan; Azmira, Kishan; Gupta, Viney: Digenic Inheritance in Juvenile Open-Angle Glaucoma

Publication Date: 12 January 2021

Case Based Review

Publication Date: 07 January 2021

Clinical Report

Carvalho, Daniel R.; Speck-Martins, Carlos E.; Martins, Bernardo J. A. F.; Izumi, Ana Paula; La Rocque-Ferreira, Alessandra: Variable Presentation and Reduced Penetrance in Autosomal Dominant Acute Necrotizing Encephalopathy Related to RANBP2 Variant

Publication Date: 06 January 2021

Case Report

Goyal, Manisha; Faruq, Mohammed; Gupta, Ashok; Shrivastava, Divya; Shamim, Uzma: 6q13q14.3 Microdeletion Syndrome with Severe Hypotonia and Facial Dysmorphism: Genotype–Phenotype Correlation

Original Article

Abdellatif, May A.K.; Eyada, Eman; Rabie, Walaa; Abdelaziz, Azza; Shahin, Walaa: Genetic and Biochemical Predictors of Neonatal Bronchopulmonary Dysplasia

Publication Date: 10 December 2020

Case Report

Kumari, Divya; Chaudhary, Deepti; Panigrahi, Inusha; Rohit, Manoj K.: Genetic Defects in Children with Cardiac Anomalies/Malformations: Noonan and CFC Syndromes

Case-Based Review

Publication Date: 07 December 2020

Case Report

Chidambaram, Aakash Chandran; Talwar, Milan; Kasinathan, Ananthanarayanan; Gulati, Reena; Selvan, Tamil: Pyridoxine Therapy: Not Just the Dose, the Duration Matters Too

Case Report

de Carvalho, Acácia Fernandes Lacerda; Pitanga, Paula Monique Leite; Alves, Esmeralda Santos; Miguel, Diego Santana Chaves Geraldo; Santo, Laila Damasceno Espirito; de Araújo, Ana Eliete Fernandes; Ornellas, Ana Carolina Pereira; Toralles, Maria Betânia Pereira: Chimerism 47,XY, + 8/46,XX: Follow-up for 11 Years

Case Report

Nagabushana, Divya; Chatterjee, Aparajita; Kenchaiah, Raghavendra; Asranna, Ajay; Arunachal, Gautham; Mundlamuri, Ravindranadh Chowdary: Response to Steroids in IQSEC2-Related Encephalopathy Presenting with Rett-Like Phenotype and Infantile Spasms

Publication Date: 02 December 2020

Case Report

Publication Date: 23 November 2020

Case Report

Matsushita, Yuki; Nagata, Hazumu; Ogawa, Masanobu; Shikada, Sawako; Ishikawa, Taisuke; Makita, Naomasa: A Case Report: Two Young Children with Long QT Syndrome Type-2 Diagnosed by Presymptomatic Genetic Testing

Case Report

Publication Date: 19 November 2020

Case Report

Sánchez-Herrero, Ángeles; Carmona-Talavera, Diego; García-Verdevio, M Elia; Hernando-Espinilla, Amaya; Estañ-Capell, Nuria: Mosaic Trisomy 5: Prenatal Genetic Diagnosis and Outcomes of a New Case

Publication Date: 09 November 2020

Erratum

Menon, Jagadeesh; Vij, Mukul; Shanmugam, Naresh; Hakeem, Abdul; Reddy, Mettu Srinivas; Kaliamoorthy, Ilankumaran; Rela, Mohamed: Erratum: Hilar Fibropolycystic Liver Disease of Unknown Etiology: A Revelation from the Explant Liver

Publication Date: 26 October 2020

Case Report

Udrea, Daniel S.; Lopez, Merrick; Avesar, Michael; Qureshi, Sonea; Moretti, Anthony; Abd-Allah, Shamel A.; Chandnani, Harsha K.: Acute COVID-19 Infection in a Pediatric Patient with ROHHAD

Publication Date: 19 October 2020

Case Report

Arora, Veronica; Pal, Swasti; Kulshreshtha, Samarth; Verma, Ishwar C.: A Further Case of Larsen's Syndrome: Clinical and Genotypic Challenges in Diagnosis

Publication Date: 15 October 2020

Publication Date: 08 October 2020

Case Report

Gowda, Vykuntaraju K.; Kerur, Chetan; Vamyanmane, Dhananjaya K.; Kumar, Pragalatha; Nagarajappa, Vani H.; Shivappa, Sanjay K.: A Treatable Cause of Myelopathy: Biotinidase Deficiency Presenting as Acute Flaccid Paralysis

Case Report

Publication Date: 05 October 2020

Case Report

Higuchi, Tsukasa; Yoshizawa, Kazuki; Hatata, Tomoko; Yoshizawa, Katsumi; Takamizawa, Shigeru; Kobayashi, Jun; Kubota, Noriko; Hidaka, Eiko: Novel Causative RET Mutation in a Japanese Family with Hirschsprung's Disease: Case Report and Factors Impacting Disease Severity

Case Report

Zdanowicz, Katarzyna; Uscinowicz, Miroslawa; Rakowska, Magdalena; Wertheim-Tysarowska, Katarzyna; Rygiel, Agnieszka Magdalena; Oracz, Grzegorz; Lebensztejn, Dariusz Marek: Chronic pancreatitis caused by a Homozygous SPINK1 c.194 + 2T > C variant and Pancreas Divisum in a 3-year-old child—case report

Publication Date: 23 September 2020

Case Report

Vakrilova, Liliya; Hitrova-Nikolova, Stanislava; Bradinova, Irena: Triploidy in a Live-Born Extremely Low Birth Weight Twin: Clinical Aspects

Publication Date: 04 December 2019

Erratum

Eid, Maha M.; Eid, Ola M.; Abdel-Hadi, Sawsan; Hassib, Nehal; Madian, Abdelrahman; Afifi, Hanan H.; Abdel-Salam, Ghada M.H.: Erratum: Clinical Variability of Pallister–Killian Syndrome in Two Egyptian Patients