Publications - Page 6 of 29 - ERN ITHACA

A family with partially penetrant multicentric carpotarsal osteolysis due to gonadal mosaicism: First reported case

Närhi A, Fernandes A, Toiviainen-Salo S, Harris J, McInerney-Leo A, Lazarus S, Avela K, Duncan EL

American journal of medical genetics Part A. 2021;185(8):2477–81
COVID-19 and Immunological Dysregulation: Can Autoantibodies be Useful?

Pascolini S, Vannini A, Deleonardi G, Ciordinik M, Sensoli A, Carletti I, Veronesi L, Ricci C, Pronesti A, Mazzanti L, Grondona A, Silvestri T, Zanuso S, Mazzolini M, Lalanne C, Quarneti C, Fusconi M, Giostra F, Granito A, Muratori L, Lenzi M, Muratori P

Clinical and translational science. 2021;14(2):502–8
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders

Botto LD, Meeths M, Campos-Xavier B, Bergamaschi R, Mazzanti L, Scarano E, Finocchi A, Cancrini C, Zirn B, Kühnle I, Kramm CM, Alanay Y, Jones WD, Irving M, Sabir A, Henter J-I, Borgström B, Nordgren A, Hammarsjö A, Putti C, Mozzato C, Zuccarello D, Nishimura G, Bonafè L, Grigelioniene G, Unger S, Superti-Furga A

American journal of medical genetics Part A. 2021;185(2):517–27
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes

di Fede E, Massa V, Augello B, Squeo G, Scarano E, Perri AM, Fischetto R, Causio FA, Zampino G, Piccione M, Curridori E, Mazza T, Castellana S, Larizza L, Ghelma F, Colombo EA, Gandini MC, Castori M, Merla G, Milani D, Gervasini C

European journal of human genetics : EJHG. 2021;29(1):88–98
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

Lissewski C, Chune V, Pantaleoni F, de Luca A, Capri Y, Brinkmann J, Lepri F, Daniele P, Leenders E, Mazzanti L, Scarano E, Radio FC, Kutsche K, Kuechler A, Gérard M, Ranguin K, Legendre M, Vial Y, van der Burgt I, Rinne T, Andreucci E, Mastromoro G, Digilio MC, Cave H, Tartaglia M, Zenker M

European journal of human genetics : EJHG. 2021;29(1):51–60
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria

Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Møller RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R, ATP1A2/A3-collaborators

Brain : a journal of neurology. 2021;144(5):1435–50
Challenges in the Surgical Treatment of Atrioventricular Septal Defect in Children With and Without Down Syndrome in Romania-A Developing Country

Olariu I-C, Popoiu A, Ardelean A-M, Isac R, Steflea RM, Olariu T, Chirita-Emandi A, Stroescu R, Gafencu M, Doros G

Frontiers in pediatrics. 2021;9:612644
First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center

Quesada-Espinosa JF, Garzón-Lorenzo L, Lezana-Rosales JM, Gómez-Rodríguez MJ, Sánchez-Calvin MT, Palma-Milla C, Gómez-Manjón I, Hidalgo-Mayoral I, Pérez de la Fuente R, Arteche-López A, Álvarez-Mora MI, Camacho-Salas A, Cruz-Rojo J, Lázaro-Rodríguez I, Morales-Conejo M, Nuñez-Enamorado N, Bustamante-Aragones A, Simón de Las Heras R, Gomez-Cano MA, Ramos-Gómez P, Sierra-Tomillo O, Juárez-Rufián A, Gallego-Merlo J, Rausell-Sánchez L, Moreno-García M, Sánchez Del Pozo J

Neurogenetics. 2021;22(4):343–6
Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test

Arteche-López A, Gómez Rodríguez MJ, Sánchez Calvin MT, Quesada-Espinosa JF, Lezana Rosales JM, Palma Milla C, Gómez-Manjón I, Hidalgo Mayoral I, Pérez de la Fuente R, Díaz de Bustamante A, Darnaude MT, Gil-Fournier B, Ramiro León S, Ramos Gómez P, Sierra Tomillo O, Juárez Rufián A, Arranz Cano MI, Villares Alonso R, Morales-Pérez P, Segura-Tudela A, Camacho A, Nuñez N, Simón R, Moreno-García M, Alvarez-Mora MI

Genes. 2021;12(4)
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder

Lévy J, Schell B, Nasser H, Rachid M, Ruaud L, Couque N, Callier P, Faivre L, Marle N, Engwerda A, van Ravenswaaij-Arts CMA, Plutino M, Karmous-Benailly H, Benech C, Redon S, Boute O, Boudry Labis E, Rama M, Kuentz P, Assoumani J, Maldergem L van, Dupont C, Verloes A, Tabet A-C

Clinical genetics. 2021;100(4):396–404