'Neurodevelopmental outcome of a child with UPD(16)mat: A case report'

Autor: Maria Novelli, Valeria Mammarella, Francesca Calandriello, Sara Temofonte, Marina Goldoni, Ilaria Macchiarulo, Paolo Versacci, Antonio Pizzuti, Jessica Petrilli, Carlo Di Brina, Barbara Caravale

Publikováno v: Global Pediatrics, Vol 9, Iss , Pp 100179- (2024)

Objective: UPD(16)mat is a rare genetic condition characterized by intrauterine growth deficiency and multiple congenital malformations. To the best of our knowledge, neurodevelopmental disorders have never been described in association with UPD(16)m

Externí odkaz: https://doaj.org/article/f47c47c4352a428688d23e8224e897d7

Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome

Autor: Giulio Calcagni, Federica Ferrigno, Alessio Franceschini, Maria Lisa Dentici, Rossella Capolino, Lorenzo Sinibaldi, Chiara Minotti, Alessia Micalizzi, Viola Alesi, Antonio Novelli, Anwar Baban, Giovanni Parlapiano, Domenico Coviello, Paolo Versacci, Carolina Putotto, Marcello Chinali, Fabrizio Drago, Andrea Bartuli, Bruno Marino, Maria Cristina Digilio

Publikováno v: Diagnostics, Vol 14, Iss 6, p 594 (2024)

Sotos syndrome is an autosomal dominant condition characterized by overgrowth with advanced bone age, macrodolicocephaly, motor developmental delays and learning difficulties, and characteristic facial features caused by heterozygous pathogenetic var

Externí odkaz: https://doaj.org/article/51d311315ab6471296f66aba2d74c3d4

Variable Effects of Laterality Genes on Disharmony Between Different Thoraco-Abdominal Organs and Between Individual Cardiac Segments.

Autor: Putotto C; Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, 00161, Rome, Italy. carolina.putotto@uniroma1.it., Versacci P; Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, 00161, Rome, Italy., Marino B; Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, 00161, Rome, Italy.

Publikováno v: Pediatric cardiology [Pediatr Cardiol] 2024 Sep 06. Date of Electronic Publication: 2024 Sep 06.

Adapting to Adulthood: A Review of Transition Strategies for Osteogenesis Imperfecta.

Autor: Celli L; Department of Human Genetics, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands.; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Department of Endocrinology and Metabolism, Amsterdam UMC Location Vrije Universiteit, Amsterdam, The Netherlands.; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.; Rare Bone Diseases Center, AOU Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.; Department of Materna Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy., Garrelfs MR; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Pediatric Endocrinology, Amsterdam UMC, University of Amsterdam and Vrije Universiteit, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Sakkers RJB; Department of Orthopedic Surgery, University Medical Center Utrecht, Utrecht, The Netherlands., Elting MW; Department of Human Genetics, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands.; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., Celli M; Rare Bone Diseases Center, AOU Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.; Department of Materna Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy., Bökenkamp A; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam, The Netherlands., Smits C; Otolaryngology-Head and Neck Surgery, Section Ear and Hearing, Amsterdam UMC, Amsterdam, The Netherlands.; Amsterdam Public Health Research Institute, Amsterdam UMC, Amsterdam, The Netherlands., Goderie T; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Otolaryngology-Head and Neck Surgery, Section Ear and Hearing, Amsterdam UMC, Amsterdam, The Netherlands., Smit JM; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Plastic, Reconstructive- and Hand Surgery, Amsterdam UMC, Location VUmc, Amsterdam, The Netherlands.; Amsterdam Bone Centre, Amsterdam, The Netherlands., Schwarte LA; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Anesthesiology, Amsterdam UMC, Amsterdam, The Netherlands., Schober PR; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Anesthesiology, Amsterdam UMC, Amsterdam, The Netherlands., Lubbers WD; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Anesthesiology, Amsterdam UMC, Amsterdam, The Netherlands., Visser MC; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Neurology, Amsterdam University Medical Centre, Location AMC, Amsterdam, The Netherlands., Kievit AJ; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Orthopedic Surgery and Sports Medicine, Amsterdam UMC Location AMC, Amsterdam, The Netherlands., van Royen BJ; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Department of Orthopedic Surgery and Sports Medicine, Amsterdam UMC Location AMC, Amsterdam, The Netherlands.; Amsterdam Movement Sciences Research Institute, Amsterdam, The Netherlands., Gilijamse M; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Amsterdam Movement Sciences Research Institute, Amsterdam, The Netherlands.; Department of Oral and Maxillofacial Surgery, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands., Schreuder WH; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Oral and Maxillofacial Surgery, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands., Rustemeyer T; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Dermato-Allergology and Occupational Dermatology, Amsterdam UMC, Amsterdam, The Netherlands., Pramana A; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Center for Special Care in Dentistry, Department of Maxillofacial Prosthodontics, Stichting Bijzondere Tandheelkunde, Amsterdam, The Netherlands., Hendrickx JJ; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Otolaryngolgy/Head and Neck Surgery, Amsterdam UMC Location VUMC, Amsterdam, The Netherlands.; Cancer Center Amsterdam, Amsterdam, The Netherlands., Dahele MR; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Radiation Oncology, Amsterdam UMC, Location VUMC, Amsterdam, The Netherlands., Saeed P; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Orbital center, Department of ophthalmology, Amsterdam UMC, Amsterdam, The Netherlands., Moll AC; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Cancer Center Amsterdam, Amsterdam, The Netherlands.; Department of Ophthalmology, Amsterdam UMC, Location VUmc, Amsterdam, The Netherlands., Curro-Tafili KR; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Ophthalmology, Amsterdam UMC, Location VUmc, Amsterdam, The Netherlands., Ghyczy EAE; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Ophthalmology, Amsterdam UMC, Location VUmc, Amsterdam, The Netherlands., Dickhoff C; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Cancer Center Amsterdam, Amsterdam, The Netherlands.; Department of Cardiothoracic Surgery, Amsterdam UMC Location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., de Leeuw RA; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Cancer Center Amsterdam, Amsterdam, The Netherlands.; Department of Obstetrics and Gynecology, Amsterdam UMC, Location AMC, Amsterdam, The Netherlands., Bonjer JH; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Surgery, Amsterdam University Medical Centre, Amsterdam, The Netherlands., Nieuwenhuijzen JA; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Urology, Amsterdam UMC Location VUMC, Amsterdam, The Netherlands., Konings TC; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Cardiology, Amsterdam UMC, Location University of Amsterdam, Amsterdam, Netherlands., Engelsman AF; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Cancer Center Amsterdam, Amsterdam, The Netherlands.; Department of Surgery, Amsterdam University Medical Centre, Amsterdam, The Netherlands., Eeckhout AM; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Psychiatry, Amsterdam UMC, Amsterdam, The Netherlands., van den Aardweg JG; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Respiratory Medicine, Amsterdam UMC, Location AMC, Amsterdam, The Netherlands., Thoral PJ; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Intensive Care Medicine, Center for Critical Care Computational Intelligence, Amsterdam UMC, Vrije Universiteit, Amsterdam, The Netherlands., Noske DP; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Neurosurgery, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands., Dubois L; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Oral and Maxillofacial Surgery, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands., Teunissen BP; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Radiology and Nuclear Medicine, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands., Semler O; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Wekre LL; TRS National Resource Center for Rare Disorders, Sunnaas Rehabilitation Hospital, Oslo, Norway., Maasalu K; Department of Orthopaedics, University of Tartu, Tartu, Estonia.; Clinic of Orthopaedics, Tartu University Hospital, Tartu, Estonia., Märtson A; Department of Orthopaedics, University of Tartu, Tartu, Estonia.; Clinic of Orthopaedics, Tartu University Hospital, Tartu, Estonia., Sangiorgi L; Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy., Versacci P; Department of Materna Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy., Riminucci M; Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy., Grammatico P; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy., Zambrano A; Rare Bone Diseases Center, AOU Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.; Department of Materna Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy., Martini L; Department of Orthopaedic and Traumatology, 'Sapienza' University of Rome, Rome, Italy., Castori M; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Foggia, Italy., Botman E; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Endocrinology and Metabolism, Amsterdam UMC Location Vrije Universiteit, Amsterdam, The Netherlands., Westerheim I; Osteogenesis Imperfecta Federation Europe (OIFE), Heffen, Belgium., Zhytnik L; Department of Human Genetics, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands.; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Department of Endocrinology and Metabolism, Amsterdam UMC Location Vrije Universiteit, Amsterdam, The Netherlands.; Department of Orthopaedics, University of Tartu, Tartu, Estonia., Micha D; Department of Human Genetics, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands.; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Amsterdam Movement Sciences Research Institute, Amsterdam, The Netherlands., Eekhoff EMW; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands. emw.eekhoff@amsterdamumc.nl.; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands. emw.eekhoff@amsterdamumc.nl.; Department of Endocrinology and Metabolism, Amsterdam UMC Location Vrije Universiteit, Amsterdam, The Netherlands. emw.eekhoff@amsterdamumc.nl.; Amsterdam Bone Centre, Amsterdam, The Netherlands. emw.eekhoff@amsterdamumc.nl.; Amsterdam Movement Sciences Research Institute, Amsterdam, The Netherlands. emw.eekhoff@amsterdamumc.nl.

Publikováno v: Calcified tissue international [Calcif Tissue Int] 2024 Nov 13. Date of Electronic Publication: 2024 Nov 13.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.