DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

eFirst

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: 24 April 2017

Case Report

Patil, Siddaramappa J.; Somashekar, Puneeth H.; Shukla, Anju; Siddaiah, Satish; Bhat, Venkatraman; Girisha, Katta M.; Rao, Pooja N.: Clinical Variability in Familial X-Linked Ohdo Syndrome–Maat-Kievit-Brunner Type with MED12 Mutation
Supplementary Table Supplementary Figures

Publication Date: 21 April 2017

Original Article

Zhang, Rong; Knapp, Michael; Kause, Franziska; Reutter, Heiko; Ludwig, Michael: Role of the LF-SINE–Derived Distal ISL1 Enhancer in Patients with Classic Bladder Exstrophy

Review Article

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

Publication Date: 12 April 2017

Review Article

Vrečar, Irena; Innes, Josie; Jones, Elizabeth A.; Kingston, Helen; Reardon, William; Kerr, Bronwyn; Clayton-Smith, Jill; Douzgou, Sofia: Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements

Publication Date: 10 April 2017

Case Report

Radhakrishnan, Periyasamy; Nayak, Shalini S.; Pai, Muralidhar V.; Shukla, Anju; Girisha, Katta M.: Occurrence of Synpolydactyly and Omphalocele in a Fetus with a HOXD13 Mutation

Publication Date: 16 March 2017

Original Article

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

Publication Date: 07 March 2017

Case Report

Fontana, P.; Melis, D.; D'Amico, A.; Cappuccio, G.; Auletta, G.; Vassallo, P.; Genesio, R.; Nitsch, L.; Buffolano, W.: Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies?

Case Report

Mbuyi-Musanzayi, Sébastien; Lumaka, Aimé; Kasole, Toni Lubala; Ilunga, Erick Kasamba; Asani, Bienvenu Yogolelo; Tshilobo, Prosper Lukusa; Muenze, Prosper Kalenga; Reychler, Hervé; Katombe, François Tshilombo; Devriendt, Koenraad: Wolf-Hirschhorn Syndrome: Clinical and Genetic Data from a First Case Diagnosed in Central Africa

Case Report

Nampoothiri, Sheela; Hebbar, Malavika; Roy, Arun Grace; Kochumon, Sheena P; Bielas, Stephanie; Shukla, Anju; Girisha, Katta Mohan: Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in PGAP3

Case Report

Salian, Smrithi; Shukla, Anju; Nishimura, Gen; Girisha, Katta M.: Severe Form of Brachydactyly Type A1 in a Child with a c.298G > A Mutation in IHH Gene

Original Article

Kruthika-Vinod, T. P.; Muntaj, Shaik; Devaraju, K. S.; Kamate, M.; Vedamurthy, A. B.: Genetic Screening of Selected Disease-Causing Mutations in Glutaryl-CoA Dehydrogenase Gene among Indian Patients with Glutaric Aciduria Type I

Original Article

Mendez-Rosado, Luis Alberto; Lantigua, Araceli; Galarza, Juan; Hamid Al-Rikabi, Ahmed B.; Ziegler, Monika; Liehr, Thomas: Unusual de novo Partial Trisomy 17p12p11.2 due to Unbalanced Insertion into 5p13.1 in a Severely Affected Boy

Original Article

Mullegama, Sureni V.; Alaimo, Joseph T.; Fountain, Michael D.; Burns, Brooke; Balog, Amanda Hebert; Chen, Li; Elsea, Sarah H.: RAI1 Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki–Lupski Syndrome
Supplementary Tables

Publication Date: 18 January 2017

Case Report

Şahin, Yavuz; Özcan, Aysegül: First Report of Two Rare Entities in a Family: 49,XXXXY and 45,X