Journal of Pediatric Genetics

Issue 03 · September 2022

Original Article
173
Abdellatif, May A.K.; Eyada, Eman; Rabie, Walaa; Abdelaziz, Azza; Shahin, Walaa:
Genetic and Biochemical Predictors of Neonatal Bronchopulmonary Dysplasia

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179
Elangovan, Bharathi; N.T, Rajesh; Subrahmanian, Meenu:
Apolipoprotein-E Gene Polymorphism and Lipid Composition among IUGR and AGA Neonates

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PDF (128 kb)
185
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

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PDF (2069 kb)
192
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

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PDF (248 kb)
198
Tripathi, Poonam; Agarwal, Sarita; Tewari, Satyendra; Mandal, Kausik:
Status of Catalase, Glutathione Peroxidase, Glutathione S-Transferase, and Myeloperoxidase Gene Polymorphisms in Beta-Thalassemia Major Patients to Assess Oxidative Injury and Its Association with Enzyme Activities

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PDF (5002 kb)

Supplementary Material

Supplementary Material (PDF)
213
Shapoo, Nidha Sadiq; Masood, Akbar; Bhat, Javid R.; Bhatia, A. S.; Shah, Idrees A.; Ganai, Bashir A.:
CYP2D6 rs35742686 and rs3892097 Gene Polymorphisms and Childhood Acute Lymphoblastic Leukemia: Relation to Disease Susceptibility in Kashmiri Children

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PDF (341 kb)
221
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

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PDF (372 kb)
Case Report
227
Vakrilova, Liliya; Hitrova-Nikolova, Stanislava; Bradinova, Irena:
Triploidy in a Live-Born Extremely Low Birth Weight Twin: Clinical Aspects
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PDF (442 kb)
232
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

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PDF (1069 kb)
236
Spehar Uroic, Anita; Milenkovic, Dragan; De Franco, Elisa; Bilic, Ernest; Rojnic Putarek, Natasa; Krnic, Nevena:
Importance of Immediate Thiamine Therapy in Children with Suspected Thiamine-Responsive Megaloblastic Anemia—Report on Two Patients Carrying a Novel SLC19A2 Gene Mutation

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PDF (82 kb)
240
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

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PDF (1702 kb)
245
Bağış, Haydar; Öztürk, Özden; Bolu, Semih; Taşkın, Bayram:
A Novel Mutation in NIPBL Gene with the Cornelia de Lange Syndrome and a 10q11.22-q11.23 Microdeletion in the Same Individual

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PDF (1220 kb)
253
Bradinova, Irena; Andonova, Silvia; Savov, Alexey:
Retrospective Diagnosis of Pontocerebellar Hypoplasia Type 1B in a Family with Two Deceased Newborn Children

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PDF (434 kb)
257
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

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PDF (2198 kb)

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Journal of Pediatric Genetics

Genetic and Biochemical Predictors of Neonatal Bronchopulmonary Dysplasia

Apolipoprotein-E Gene Polymorphism and Lipid Composition among IUGR and AGA Neonates

Molecular Study of Childhood Steroid-Resistant Nephrotic Syndrome: A Hospital-Based Study

Determination of High-Resolution HLA-DQB1 Suballeles and IL-17 Polymorphisms in Turkish Pediatric Patients

Status of Catalase, Glutathione Peroxidase, Glutathione S-Transferase, and Myeloperoxidase Gene Polymorphisms in Beta-Thalassemia Major Patients to Assess Oxidative Injury and Its Association with Enzyme Activities

CYP2D6 rs35742686 and rs3892097 Gene Polymorphisms and Childhood Acute Lymphoblastic Leukemia: Relation to Disease Susceptibility in Kashmiri Children

Phenotype and Genotype Profile of Children with Primary Distal Renal Tubular Acidosis: A 10-Year Experience from a North Indian Teaching Institute

Triploidy in a Live-Born Extremely Low Birth Weight Twin: Clinical Aspects

Chronic pancreatitis caused by a Homozygous SPINK1 c.194 + 2T > C variant and Pancreas Divisum in a 3-year-old child—case report

Importance of Immediate Thiamine Therapy in Children with Suspected Thiamine-Responsive Megaloblastic Anemia—Report on Two Patients Carrying a Novel SLC19A2 Gene Mutation

Novel Causative RET Mutation in a Japanese Family with Hirschsprung's Disease: Case Report and Factors Impacting Disease Severity

A Novel Mutation in NIPBL Gene with the Cornelia de Lange Syndrome and a 10q11.22-q11.23 Microdeletion in the Same Individual

Retrospective Diagnosis of Pontocerebellar Hypoplasia Type 1B in a Family with Two Deceased Newborn Children

A Treatable Cause of Myelopathy: Biotinidase Deficiency Presenting as Acute Flaccid Paralysis