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Mechanisms of Development|January 2, 2010
VANGL1 rare variants associated with neural tube defects affect convergent extension in zebrafishAnnie Reynolds, Jonathan R McDearmid, Stephanie Lachance, et al.
Neuropediatrics|April 10, 2018
Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral PhenotypeLivia Pisciotta, Valeria Capra, Andrea Accogli, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|February 8, 2006
Mutational screening of the CYP26A1 gene in patients with caudal regression syndromePatrizia De Marco, Elisa Merello, Samantha Mascelli, et al.
Neuroradiology|October 9, 2015
Expanding the spectrum of congenital anomalies of the diencephalic-mesencephalic junctionMariasavina Severino, Domenico Tortora, Angela Pistorio, et al.
Birth Defects Research|June 22, 2021
The first case of mosaic MNX1 mutation in an adult female with features of Currarino syndromeFerruccio Romano, Patrizia De Marco, Marzia Ognibene, et al.
American Journal of Respiratory and Critical Care Medicine|June 10, 2006
Brainstem anomalies in two patients affected by congenital central hypoventilation syndromeTiziana Bachetti, Angela Robbiano, Sara Parodi, et al.
BMC Cancer|May 12, 2006
Leiomyomatosis peritonealis disseminata in association with Currarino syndrome?Carmine Nappi, Attilio Di Spiezio Sardo, Vincenzo Dario Mandato, et al.
The Journal of Clinical Endocrinology and Metabolism|March 17, 2018
Clinical Manifestations and Metabolic Outcomes of Seven Adults With Silver-Russell SyndromeGiuseppa Patti, Marta Giaccardi, Valeria Capra, et al.
Children (Basel, Switzerland)|May 27, 2026
Studying Familial Bainbridge-Ropers Syndrome Due to a Novel <i>ASXL3</i> Germline Variant and Expanding the Clinical SpectrumDaiana Mariano, Valentina Petrone, Francesca Madia, et al.
Frontiers in Pediatrics|January 29, 2024
Abdominal rhabdoid tumor presenting with symptomatic spinal epidural compression in a newborn. A case reportShana Montalto, Michela Di Filippo, Valeria Capra, et al.
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