DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

eFirst

Publication Date: 16 October 2019

Case Report

Letter to the Editor

Original Article

Ozyilmaz, Berk; Kirbiyik, Ozgur; Ozdemir, Taha R.; Kaya, Ozge Ozer; Kutbay, Yasar B.; Erdogan, Kadri M.; Guvenc, Merve Saka; Koc, Altug: The Efficiency of SNP-Based Microarrays in the Detection of Copy-Neutral Events at 15q11.2 and 11p15.5 Loci

Publication Date: 30 September 2019

Publication Date: 24 September 2019

Original Article

Alegra, Taciane; Sperb-Ludwig, Fernanda; Guarany, Nicole Ruas; Ribeiro, Erlane M.; Lourenço, Charles M.; Kim, Chong Ae; Valadares, Eugênia R.; Galera, Marcial Francis; Acosta, Angelina X.; Horovitz, Dafne Dain Gandelman; Schwartz, Ida Vanessa Doederlein: Clinical Characterization of Mucolipidoses II and III: A Multicenter Study

Publication Date: 23 September 2019

Case Report

Akyol Onder, Esra Nagehan; Ozkol, Mine; Nese, Nalan; Taneli, Can; Cankorur, Osman Orkun; Ozunan, Ipek: Focal Xanthogranulomatous Pyelonephritis in Brachydactyly Mental Retardation Syndrome (2q37 Deletion Syndrome)

Case Report

Latchman, Kumarie; Nieto-Moreno, Margarita; Alberola, Roberto Lopez: Spastic Diplegia in a Haitian Girl with Angelman Syndrome

Publication Date: 16 September 2019

Case Report

Leone, Paola E.; Pérez-Villa, Andy; Yumiceba, Verónica; Hernández, María Ángeles; García-Cárdenas, Jennyfer M.; Armendáriz-Castillo, Isaac; Guerrero, Santiago; Guevara-Ramírez, Patricia; López-Cortés, Andrés; Zambrano, Ana Karina; García, Juan Luis; Hernández, Jesús María; Paz-y-Miño, César: De Novo Duplication of Chromosome 9p in a Female Infant: Phenotype and Genotype Correlation

Publication Date: 12 September 2019

Case Report

Cagan Appak, Yeliz; Baran, Masallah; Ozturk Hismi, Burcu; Ozyilmaz, Berk; Vardi, Kader; Ozer Kaya, Ozge; Aksoy, Betul; Kasap Demir, Belde: Renal–Hepatic–Pancreatic Dysplasia: An Ultra-Rare Ciliopathy with a Novel NPHP3 Genotype

Original Article

Tyagi, Anudishi; Pramanik, Raja; Bakhshi, Radhika; Vishnubhatla, Sreenivas; Bakhshi, Sameer: Genetic Landscape of Mitochondrial Regulatory Region in Pediatric Acute Myeloid Leukemia: Changes from Diagnosis to Relapse

Publication Date: 11 September 2019

Original Article

Chukua, Kanokporn; Netsawang, Chayanont; Padungthai, Kittipoom; Khetkham, Thanitchet; Chokevittaya, Piyaporn; Poonjearansilp, Onapinya; Prachuktum, Sariya; Kositamongkol, Sudatip; Techasatit, Wiliporn; Silapamongkolkul, Phakatip; Satayasai, Wallee; Pusongchai, Tasama; Surapolchai, Pacharapan; Rojnueangnit, Kitiwan: Two Novel GATA1 Mutations in Transient Abnormal Myelopoiesis of Thai Neonates with Down Syndrome

Publication Date: 03 September 2019

Case Report

da Costa Almeida, Carla Bastos; Welter, Amanda Thum; Abech, Gabriel Dotta; Brandão, Gabriela Rangel; Flores, José Antônio Monteiro; Schüle, Birgitt; Francke, Uta; Fiegenbaum, Marilu; Zen, Paulo Ricardo Gazzola; Rosa, Rafael Fabiano Machado: Report of the Phenotype of a Patient with Roberts Syndrome and a Rare ESCO2 Variant

Case Report

Herrero-García, Ana; Marín-Reina, Purificación; Cabezuelo-Huerta, Gloria; Ferrer-Lorente, M. Belén; Rosello, Mónica; Orellana, Carmen; Martínez, Francisco; Pérez-Aytés, Antonio: Mixed Phenotype of Langer–Giedion's and Cornelia de Lange's Syndromes in an 8q23.3-q24.1 Microdeletion without TRPS1 Deletion

Publication Date: 02 September 2019

Case Report

Masip, Etna; Donat, Ester; Polo, Begoña; Oltra, Silvestre; Ortega, Pedro; Ribes-Koninckx, Carmen: Recurrent Metabolic Alkalosis in a Cystic Fibrosis Patient: Coexistence with Congenital Chloride Diarrhea

Case Report

Ramos Mejía, Rosario; Aza-Carmona, Miriam; del Pino, Mariana; Heath, Karen E.; Fano, Virginia; Obregon, Maria Gabriela: Clinical and Radiologic Evaluation of an Individual with Hypochondroplasia and a Novel FGFR3 Mutation

Publication Date: 28 August 2019

Case Report

Arslan, Ahmet Burak; Zamani, Ayşe Gül; Pekcan, Sevgi; Yıldırım, Mahmut Selman: A Novel Pathogenic Variant of the CFTR Gene in a Patient with Cystic Fibrosis Phenotype—c.4096A > T

Publication Date: 26 August 2019

Case Report

Jain, Angita; Selvam, Pavalan; Atwal, Herjot; Atwal, Paldeep S.: A Report of a Novel Pathogenic Variant in a Family with Buschke–Ollendorf Syndrome

Publication Date: 19 August 2019

Case Report

Pournami, Femitha; Upadhyay, Swati; Nandakumar, Anand; Prabhakar, Jyothi; Jain, Naveen: Familial Hemophagocytic Lymphohistiocytosis: A Rare Mutation of STXBP2 in Exon 19

Publication Date: 12 August 2019

Case Report

Atli, Emine Ikbal; Gurkan, Hakan; Atli, Engin; Vatansever, Ulfet; Acunas, Betul; Mail, Cisem: De Novo Subtelomeric 6p25.3 Deletion with Duplication of 6q23.3-q27: Genotype–Phenotype Correlation

Case Report

Taslicay, Ceylan Altintas; Dervisoglu, Elmire; Ciftci, Ercument; Corapcioglu, Funda; Anik, Yonca: PHACE Syndrome: A Rare Case

Publication Date: 04 August 2019

Case Report

Pavone, Piero; Marino, Simona Domenica; Corsello, Giovanni; Ruggieri, Martino; Chiodo, Danilo Castellano; Marino, Silvia; Falsaperla, Raffaele: Cerebral White Matter Lesions and Dysmorphisms: Signs Suggestive of 6p25 Deletion Syndrome—Literature Review

Original Article

El-Bassyouni, Hala T.; Hassan, Nagwa; Mahfouz, Inas; Abd-Elnaby, Azza E.; Mostafa, Mostafa I.; Tosson, Angie M.S.: Early Detection and Management of Prader-Willi Syndrome in Egyptian Patients

Publication Date: 30 July 2019

Case Report

Nair, Pratibha; El-Bazzal, Lara; Mansour, Hicham; Sabbagh, Sandra; Al-Ali, Mahmoud Taleb; Gambarini, Alicia; Delague, Valerie; El-Hayek, Stephany; Mégarbané, André: Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review

Publication Date: 09 July 2019

Case Report

Thomas, Elizabeth; Lewis, Andrea M.; Yang, Yaping; Chanprasert, Sirisak; Potocki, Lorraine; Scott, Daryl A.: Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability

Publication Date: 12 June 2019

Publication Date: 11 June 2019

Publication Date: 04 June 2019

Case Report

Publication Date: 28 May 2019

Case Report

Vázquez-Justes, Daniel; Carreño-Gago, Lidia; García-Arumi, Elena; Traveset, Alicia; Montoya, Julio; Ruiz-Pesini, Eduardo; López, Ricard; Brieva, Luis: Mitochondrial m.13513G>A Point Mutation in ND5 in a 16-Year-Old Man with Leber Hereditary Optic Neuropathy Detected by Next-Generation Sequencing

Publication Date: 20 April 2019

Case Report

Johannsen, Jessika; Bierhals, Tatjana; Deindl, Philipp; Hecher, Laura; Hermann, Katharina; Hempel, Maja; Kloth, Katja; Denecke, Jonas: Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant

Case Report

LaBrecque, Brett; Contreras, Marioxy; Giordano, Jessica; Parravicini, Elvira: Phenotypic Variation between Monochorionic Diamniotic Twins with Coffin–Siris Syndrome

Publication Date: 03 April 2019

Case Report

Kamranjam, Mana; Hosseini, Seyedeh Maryam; Alaei, Mohammadreza: A Novel Frameshift Mutation Associated with Hurler's Syndrome: A Case Report