PUBLISHED ARTICLES AND OTHER SCIENTIFIC REPORTS
We believe in the value of scientific research. It is a catalyst for sharing progress throughout the world. The publication of papers and active participation in conferences are the key for obtaining and disseminating results by scientists and clinicians involved in the study of Ring14 syndrome.
We are closely connected to scientific, medical and government entities in order to bring more attention to and raise awareness of our syndrome.
Ring14 International has been acknowledged in many scientific reports. Through our support, these publications have opened an important channel, increasing our visibility making ourselves known to families who are still “alone”.
Original articles published in academic international journals and scientific meeting reports
Links
- The ring 14 syndrome: clinical and molecular definition
- Partial epilepsy complicated by convulsive and nonconvulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome
- The ring 14 syndrome (ENG)
- The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks
- Galliera Genetic Bank: A DNA and Cell Line Biobank from Patients Affected by Genetic Diseases
- Chromosome therapy: Potential strategies for the correction of severe chromosome aberrations
- Developmental trends of communicative skills in children with chromosome 14 aberrations
- eHealth Support for Genetic Diseases: The Example of Telemedicine
- Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force
- Mother–child dyadic co-regulation in children with intellectual disability: A comparison among dyads with children with chromosome 14 aberrations, Down syndrome and typical development
- Chromosome 14 deletions, rings, and epilepsy genes: A riddle wrapped in a mystery inside an enigma
Documents
› Baldo et al OJRD 2016 (654 KB)
› Ring14 international: development of a national-based patient association towards a "global" network (549 KB)
› Developing with ring 14 syndrome: A survey in different countries (276 KB)
› Epilepsy in ring 14 syndrome: A clinical and EEG study of 22 patients (646 KB)
› Linguistic and psychomotor development in children with chromosome 14 deletions (452 KB)
› Linguistic and Psychomotor Development in Children with Chromosome 14 Deletions (111 KB)
› EUROPEAN JOURNAL OF MEDICAL GENETICS (583 KB)
› Poster Telethon Biobank (1.2 MB)
› Linguistic skills in Italian children with chromosome 14 aberrations (594 KB)
› Abstract - Article on the study of the language (44 KB)
› Epileptic Disorder 2010 (598 KB)
Description of a "state of epileptic disorder" in a children with RING14. The study has been fund by RING14 and made by our researcher in years 2007-2009.
› American Journal 2009 (4.5 MB)
Study fund by RING14 made by our researcher in years 2005-2008.
› Epilepsy is the major manifestation in the Ring14 (319 KB)
Poster presented by prof. Neri at 30th Annual David W.Smith Workshop on Malformations and Morphogenesis.
5-9 August 2009, Philadelphia
› "The Stories of our children”.Stories combining (1.0 MB)
Poster presented at Meeting Medicina Narrativa e Malattie Rare, held in Rome at the Istituto Superiore di Sanità on 26 June 2009.
› Abstract presented at Congresso Medicina Narrativa e Malattie Rare (14.0 KB)
Istituto Superiore di Sanità - Roma, 26 June 2009
› International Association Ring14 (84 KB)
Poster presented at 1° Congresso delle Associazioni Amiche di Telethon, Riva del garda, 10 march 2009
› Neurolinguistic profile in syndromes of chromosome 14 (3.9 MB)
Comunication presented at 'Giornate di Neuropsicologia dell'Età Evolutiva' 21-24 January 2009, Brixen.
› Neurolinguistic profile in syndromes of chromosome 14 (105 KB)
Poster presented at 'Giornate di Neuropsicologia dell'Età Evolutiva' 21-24 January 2009, Brixen.
› Epilepsy in Ring 14 syndrome (20 MB)
Presentation of doctor Giovannini (23 Maggio 08, Università Cattolica del Sacro Cuore)
› The problem behavior is a message (64 KB)
Poster presented at VI Congresso Nazionale S.I.R.M. (Modena, dicembre 2008)
› THE RING 14 SYNDROME: CLINICAL AND MOLECULAR DEFINITION OF A RARE CONDITION (6.2 MB)
Poster presented by prof. Neri in a International meeting in Canada (august 2008).
› THE RING14 SYNDROME: CLINIC-GENETICS DATA (2.1 MB)
Thesis of PHD in Genetica Molecolare. D.ssa Laura Seminara Accademic Year 2007-2008, Università Cattolica del Sacro Cuore.
› THE RING14 SYNDROME: CLINICS AND REHABILITATIVE ASPECTS (225 KB)
Final script of 'Corso di laurea in scienze Piscologiche Cognitive e Psicobiologiche'
› The chromosopathy "ring(14)" (37 KB)
The chromosopathy "ring(14)": clinical-genetic study with production of the preliminary results and of the dedicated data-base
Abstract introduced to the National XXXIII Congress of the Italian Society of Pediatric Neurology
› The "chromosome 14 ring" syndrome (73 KB)
Thesis of high school
› BASAL GENETIC DEFECT (121 KB)
BASAL GENETIC DEFECT IN CHROMOSOME RING14 SYNDROME AND IN PARTIAL 14q DELETIONS - ABSTRACT
› NURSING CARE AT CHILDREN AFFECTED BY RING 14 SYNDROME (109 KB)
Thesis of 'Corso di Laurea in Infermieristica Sede Reggio Emilia'.
› THE CHROMOSOME 14 RING SYNDROME: CLINICS AND GENETICS - ABSTRACT (5.9 KB)
Abstract presented at Congresso of S.I.G.U., 2005.
› THE CHROMOSOME 14 RING SYNDROME: CLINICS AND GENETICS - POSTER (372 KB)
Poster presented at Congresso of S.I.G.U., 2005.
› THE CHROMOSOME 14 RING SYNDROME: CLINICS AND GENETICS - ABSTRACT (313 KB)
Abstract presented at 7° Congresso Nazionale S.I.G.U. (Società Italiana Genetica Umana), Pisa-Ottobre 2004.
› THE CHROMOSOME 14 RING SYNDROME: CLINICS AND GENETICS - POSTER (731 KB)
Poster presented at 7° Congresso Nazionale S.I.G.U. (Società Italiana Genetica Umana), Pisa-Ottobre 2004.