143 related articles for article (PubMed ID: 34751866)
1. Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation.
Ajmone PF; Allegri B; Cereda A; Michelini G; Dall'Ara F; Mariani M; Rigamonti C; Selicorni A; Vizziello P; Costantino MA
J Autism Dev Disord; 2022 Nov; 52(11):4763-4773. PubMed ID: 34751866
[TBL] [Abstract][Full Text] [Related]
2. Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age.
Moss J; Penhallow J; Ansari M; Barton S; Bourn D; FitzPatrick DR; Goodship J; Hammond P; Roberts C; Welham A; Oliver C
Am J Med Genet A; 2017 Jun; 173(6):1566-1574. PubMed ID: 28425213
[TBL] [Abstract][Full Text] [Related]
3. Development, behaviour and autism in individuals with SMC1A variants.
Mulder PA; Huisman S; Landlust AM; Moss J; ; Piening S; Hennekam RC; van Balkom IDC
J Child Psychol Psychiatry; 2019 Mar; 60(3):305-313. PubMed ID: 30295920
[TBL] [Abstract][Full Text] [Related]
4. Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.
Mannini L; Cucco F; Quarantotti V; Krantz ID; Musio A
Hum Mutat; 2013 Dec; 34(12):1589-96. PubMed ID: 24038889
[TBL] [Abstract][Full Text] [Related]
5. Autism traits in children and adolescents with Cornelia de Lange syndrome.
Srivastava S; Landy-Schmitt C; Clark B; Kline AD; Specht M; Grados MA
Am J Med Genet A; 2014 Jun; 164A(6):1400-10. PubMed ID: 24718998
[TBL] [Abstract][Full Text] [Related]
6. Phenotypes and genotypes in individuals with SMC1A variants.
Huisman S; Mulder PA; Redeker E; Bader I; Bisgaard AM; Brooks A; Cereda A; Cinca C; Clark D; Cormier-Daire V; Deardorff MA; Diderich K; Elting M; van Essen A; FitzPatrick D; Gervasini C; Gillessen-Kaesbach G; Girisha KM; Hilhorst-Hofstee Y; Hopman S; Horn D; Isrie M; Jansen S; Jespersgaard C; Kaiser FJ; Kaur M; Kleefstra T; Krantz ID; Lakeman P; Landlust A; Lessel D; Michot C; Moss J; Noon SE; Oliver C; Parenti I; Pie J; Ramos FJ; Rieubland C; Russo S; Selicorni A; Tümer Z; Vorstenbosch R; Wenger TL; van Balkom I; Piening S; Wierzba J; Hennekam RC
Am J Med Genet A; 2017 Aug; 173(8):2108-2125. PubMed ID: 28548707
[TBL] [Abstract][Full Text] [Related]
7. The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal study.
Ajmone PF; Giani L; Allegri B; Michelini G; Dall'Ara F; Rigamonti C; Monti F; Vizziello PG; Selicorni A; Milani D; Scaini S; Costantino A
Am J Med Genet A; 2023 Feb; 191(2):424-436. PubMed ID: 36373849
[TBL] [Abstract][Full Text] [Related]
8. Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience.
Bhuiyan ZA; Klein M; Hammond P; van Haeringen A; Mannens MM; Van Berckelaer-Onnes I; Hennekam RC
J Med Genet; 2006 Jul; 43(7):568-75. PubMed ID: 16236812
[TBL] [Abstract][Full Text] [Related]
9. Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype.
Gervasini C; Parenti I; Picinelli C; Azzollini J; Masciadri M; Cereda A; Selicorni A; Russo S; Finelli P; Larizza L
Eur J Med Genet; 2013 Mar; 56(3):138-43. PubMed ID: 23313159
[TBL] [Abstract][Full Text] [Related]
10. Analysis of clinical and genetic characteristics in 10 Chinese individuals with Cornelia de Lange syndrome and literature review.
Liu C; Li X; Cui J; Dong R; Lv Y; Wang D; Zhang H; Li X; Li Z; Ma J; Liu Y; Gai Z
Mol Genet Genomic Med; 2020 Oct; 8(10):e1471. PubMed ID: 32856424
[TBL] [Abstract][Full Text] [Related]
11. Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation.
Selicorni A; Russo S; Gervasini C; Castronovo P; Milani D; Cavalleri F; Bentivegna A; Masciadri M; Domi A; Divizia MT; Sforzini C; Tarantino E; Memo L; Scarano G; Larizza L
Clin Genet; 2007 Aug; 72(2):98-108. PubMed ID: 17661813
[TBL] [Abstract][Full Text] [Related]
12. Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?
Castronovo P; Delahaye-Duriez A; Gervasini C; Azzollini J; Minier F; Russo S; Masciadri M; Selicorni A; Verloes A; Larizza L
Clin Genet; 2010 Dec; 78(6):560-4. PubMed ID: 20331678
[TBL] [Abstract][Full Text] [Related]
13. Clinical Diagnosis of Classical Cornelia de Lange Syndrome Made From Postmortem Examination of Second Trimester Fetus With Novel
Hague J; Twiss P; Mead Z; Park SM
Pediatr Dev Pathol; 2019 Oct; 22(5):475-479. PubMed ID: 30890023
[TBL] [Abstract][Full Text] [Related]
14. De novo
Thanh DC; Ngoc CTB; Nguyen NL; Vu CD; Tung NV; Nguyen HH
Medicina (Kaunas); 2020 Feb; 56(2):. PubMed ID: 32074972
[TBL] [Abstract][Full Text] [Related]
15. Contrasting age related changes in autism spectrum disorder phenomenology in Cornelia de Lange, Fragile X, and Cri du Chat syndromes: Results from a 2.5 year follow-up.
Cochran L; Moss J; Nelson L; Oliver C
Am J Med Genet C Semin Med Genet; 2015 Jun; 169(2):188-97. PubMed ID: 25989416
[TBL] [Abstract][Full Text] [Related]
16. Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome.
Wenger TL; Chow P; Randle SC; Rosen A; Birgfeld C; Wrede J; Javid P; King D; Manh V; Hing AV; Albers E
Am J Med Genet A; 2017 Feb; 173(2):414-420. PubMed ID: 28102598
[TBL] [Abstract][Full Text] [Related]
17. Behavioral Phenotype and Autism Spectrum Disorders in Cornelia de Lange Syndrome.
Parisi L; Di Filippo T; Roccella M
Ment Illn; 2015 Sep; 7(2):5988. PubMed ID: 26605036
[TBL] [Abstract][Full Text] [Related]
18. Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.
Baquero-Montoya C; Gil-Rodríguez MC; Hernández-Marcos M; Teresa-Rodrigo ME; Vicente-Gabas A; Bernal ML; Casale CH; Bueno-Lozano G; Bueno-Martínez I; Queralt E; Villa O; Hernando-Davalillo C; Armengol L; Gómez-Puertas P; Puisac B; Selicorni A; Ramos FJ; Pié J
Eur J Med Genet; 2014 Sep; 57(9):503-9. PubMed ID: 24874887
[TBL] [Abstract][Full Text] [Related]
19. Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients.
Russo S; Masciadri M; Gervasini C; Azzollini J; Cereda A; Zampino G; Haas O; Scarano G; Di Rocco M; Finelli P; Tenconi R; Selicorni A; Larizza L
Eur J Hum Genet; 2012 Jul; 20(7):734-41. PubMed ID: 22353942
[TBL] [Abstract][Full Text] [Related]
20. A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort.
Li S; Miao H; Yang H; Wang L; Gong F; Chen S; Zhu H; Pan H
Mol Genet Genomic Med; 2020 Feb; 8(2):e1066. PubMed ID: 31872982
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
