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American Journal of Medical Genetics. Part A|December 1, 2012
A novel mutation in CDKN1C in sibs with Beckwith-Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creasesPiranit Nik Kantaputra, Rekwan Sittiwangkul, Nuntigar Sonsuwan, et al.
The Journal of Clinical Endocrinology and Metabolism|March 17, 2005
Familial occurrence of the IMAGe association: additional clinical variants and a proposed mode of inheritanceIgnacio Bergadá, Graciela Del Rey, Pablo Lapunzina, et al.
Pediatric Dermatology|February 29, 2008
Multiple giant pilomatricoma in familial Sotos syndromeYolanda Gilaberte, Marta Ferrer-Lozano, María Jesús Oliván, et al.
European Journal of Medical Genetics|August 2, 2005
Beckwith-Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a "de novo" pericentric inversion of chromosome YAlicia Delicado, Pablo Lapunzina, María Palomares, et al.
Molecular Genetics & Genomic Medicine|July 29, 2016
A view on clinical genetics and genomics in Spain: of challenges and opportunitiesTeresa Pàmpols, Feliciano J Ramos, Pablo Lapunzina, et al.
Orphanet Journal of Rare Diseases|September 21, 2014
Simpson-Golabi-Behmel syndrome types I and IIJair Tenorio, Pedro Arias, Víctor Martínez-Glez, et al.
Journal of Clinical Medicine|November 27, 2025
Epilepsy in Wolf-Hirschhorn Syndrome: Clinical Insights from a Pediatric Cohort and a Review of the LiteratureRaquel Blanco-Lago, Ignacio Málaga, Jair Antonio Tenorio-Castaño, et al.
Clinical Genetics|March 14, 2020
Coexistence of autosomal dominant polycystic kidney disease type 1 and hereditary renal hypouricemia type 2: A model of early-onset and fast cyst progressionRamón Peces, Rocio Mena, Carlos Peces, et al.
Trends in Genetics : TIG|May 29, 2016
Causes and Consequences of Multi-Locus Imprinting Disturbances in HumansMarta Sanchez-Delgado, Andrea Riccio, Thomas Eggermann, et al.
Revista Chilena De Pediatria|January 5, 2021
Pathogenic variant in the PCDH19 gene in a patient with epilepsy and cognitive disabilityViviana Venegas Silva, Elisa García Venegas, M Gabriela Repetto Lisboa, et al.
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