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

Publication Date: 06 July 2017

Case Report

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

Publication Date: 12 June 2017

Publication Date: 02 June 2017

Original Article

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

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

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

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

Publication Date: 12 April 2017

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

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

Original Article

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

Publication Date: 18 January 2017