DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

eFirst

Publication Date: 24 August 2017

Case Report

de Souza, Paulo Victor Sgobbi; Bortholin, Thiago; Burlin, Stênio; Naylor, Fernando George Monteiro; Pinto, Wladimir Bocca Vieira de Rezende; Oliveira, Acary Souza Bulle: NFU1-Related Disorders as Key Differential Diagnosis of Cavitating Leukoencephalopathy

Publication Date: 14 August 2017

Case Report

Peterson, Jess F.; Geddes, Gabrielle C.; Basel, Donald G.; Schippman, Dana; Grignon, John W.; vanTuinen, Peter; Kappes, Ulrike P.: Inheritance of a Balanced t(12;20)(q24.33;p12.2) and Unbalanced der(13)t(7;13)(p21.3;q33.2) from a Maternally Derived Double Balanced Translocation Carrier

Publication Date: 27 July 2017

Case Report

Praticò, Andrea Domenico; Falsaperla, Raffaele; Rizzo, Renata; Ruggieri, Martino; Verrotti, Alberto; Pavone, Piero: A New Patient with Potocki–Lupski Syndrome: A Literature Review

Publication Date: 26 July 2017

Case Report

Peterson, Jess F.; Basel, Donald G.; Bick, David P.; Chirempes, Brett; Lorier, Rachel B.; Zemlicka, Nykula; Grignon, John W.; Weik, LuAnn; Kappes, Ulrike: A Rare Combination of Functional Disomy Xp, Deletion Xq13.2-q28 Spanning the XIST Gene, and Duplication 3q25.33-q29 in a Female with der(X)t(X;3)(q13.2;q25.33)

Publication Date: 13 July 2017

Original Article

Shambhavi, Arya; Salian, Smrithi; Shah, Hitesh; Nair, Mohandas; Sharan, Krishna; Jin, Dong-Kyu; Cho, Sung Yoon; Mathew, Mary; Shukla, Anju; Girisha, Katta M.: Pycnodysostosis: Novel Variants in CTSK and Occurrence of Giant Cell Tumor
Supplementary Material

Publication Date: 06 July 2017

Case Report

Bozdogan, Sevcan Tug; Bisgin, Atil: A Rare Double Aneuploidy Case (Down–Klinefelter)

Case Report

Poterico, Julio A.; Vásquez, Flor; Chávez-Pastor, Miguel; Trubnykova, Milana; Chavesta, Félix; Chirinos, Jenny; Salcedo, Nancy; Mena, Rosmery; Cubas, Sulema; González, Rocío; Alvariño, Rossana; Abarca-Barriga, Hugo: A Peruvian Child with 18p-/18q+ Syndrome and Persistent Microscopic Hematuria
Supplemental Table S1

Publication Date: 12 June 2017

Case Report

Khedr, Salwa; Jazaerly, Tarek; Kostadinov, Stefan: Placental Teratoma, Omphalomesenteric Duct Remnant, or Intestinal Organoid (Enteroid) Differentiation: A Diagnostic Dilemma

Publication Date: 02 June 2017

Original Article

Novikova, Irina; Sen, Paushpala; Manzardo, Ann; Butler, Merlin G.: Duplication of 19p13.3 in 11-Year-Old Male Patient with Dysmorphic Features and Intellectual Disability: A Review

Publication Date: 16 May 2017

Original Article

Lu, Yongping; Chong, Pin Fee; Kira, Ryutaro; Seto, Toshiyuki; Ondo, Yumiko; Shimojima, Keiko; Yamamoto, Toshiyuki: Mutations in NSD1 and NFIX in Three Patients with Clinical Features of Sotos Syndrome and Malan Syndrome

Publication Date: 11 May 2017

Original Article

Singh, Mable Misha; Kumar, Ravindra; Tewari, Satyendra; Agarwal, Sarita: Determining Nt-proBNP Levels with Diastolic Dysfunction in Thalassemia Major Patients

Publication Date: 10 May 2017

Erratum

Gaboon, Nagwa E. A.; Bakur, Khadijah H.; Edrees, Alaa Y.; Al-Aama, Jumana Y.: Erratum: Attitude toward Prenatal Testing and Termination of Pregnancy among Health Professionals and Medical Students in Saudi Arabia

Publication Date: 05 May 2017

Case Report

Kuthiroly, Shwetha; Yesodharan, Dhanya; Ghosh, Aneesh; White, Kenneth E.; Nampoothiri, Sheela: Osteoglophonic Dysplasia: Phenotypic and Radiological Clues

Publication Date: 02 May 2017

Case Report

Mostafa, Mostafa Ibrahim; Abouzaid, Maha Rashed; Thomas, Manal Micheal; El-Kamah, Ghada Yousef: Could Congenital Insensitivity to Pain with Anhidrosis Be Misdiagnosed as Papillon–Lefèvre Syndrome?

Case Report

Yesodharan, Dhanya; Sudarsanan, Bindu; Jojo, Annie; Abraham, Mohan; Bhavani, Nisha; Mathews, Hima; Nampoothiri, Sheela: Plexiform Neurofibroma of Clitoris

Publication Date: 26 April 2017

Original Article

Kammoun, Molka; Slimani, Wafa; Hannachi, Hanene; Bibi, Mohamed; Saad, Ali; Mougou-Zerelli, Soumaya: Array Characterization of Prenatally Diagnosed 15q26 Microdeletion and 2q37.1 Duplication: Report of a New Case with Multicystic Kidneys and Review of the Literature

Publication Date: 21 April 2017

Review Article

Chouiter, Leila; Nadifi, Sellama: Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma