419 related articles for article (PubMed ID: 27164022)
1. Special cases in Cornelia de Lange syndrome: The Spanish experience.
Pié J; Puisac B; Hernández-Marcos M; Teresa-Rodrigo ME; Gil-Rodríguez M; Baquero-Montoya C; Ramos-Cáceres M; Bernal M; Ayerza-Casas A; Bueno I; Gómez-Puertas P; Ramos FJ
Am J Med Genet C Semin Med Genet; 2016 Jun; 172(2):198-205. PubMed ID: 27164022
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
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. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
Ansari M; Poke G; Ferry Q; Williamson K; Aldridge R; Meynert AM; Bengani H; Chan CY; Kayserili H; Avci S; Hennekam RC; Lampe AK; Redeker E; Homfray T; Ross A; Falkenberg Smeland M; Mansour S; Parker MJ; Cook JA; Splitt M; Fisher RB; Fryer A; Magee AC; Wilkie A; Barnicoat A; Brady AF; Cooper NS; Mercer C; Deshpande C; Bennett CP; Pilz DT; Ruddy D; Cilliers D; Johnson DS; Josifova D; Rosser E; Thompson EM; Wakeling E; Kinning E; Stewart F; Flinter F; Girisha KM; Cox H; Firth HV; Kingston H; Wee JS; Hurst JA; Clayton-Smith J; Tolmie J; Vogt J; Tatton-Brown K; Chandler K; Prescott K; Wilson L; Behnam M; McEntagart M; Davidson R; Lynch SA; Sisodiya S; Mehta SG; McKee SA; Mohammed S; Holden S; Park SM; Holder SE; Harrison V; McConnell V; Lam WK; Green AJ; Donnai D; Bitner-Glindzicz M; Donnelly DE; Nellåker C; Taylor MS; FitzPatrick DR
J Med Genet; 2014 Oct; 51(10):659-68. PubMed ID: 25125236
[TBL] [Abstract][Full Text] [Related]
6. De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
Gil-Rodríguez MC; Deardorff MA; Ansari M; Tan CA; Parenti I; Baquero-Montoya C; Ousager LB; Puisac B; Hernández-Marcos M; Teresa-Rodrigo ME; Marcos-Alcalde I; Wesselink JJ; Lusa-Bernal S; Bijlsma EK; Braunholz D; Bueno-Martinez I; Clark D; Cooper NS; Curry CJ; Fisher R; Fryer A; Ganesh J; Gervasini C; Gillessen-Kaesbach G; Guo Y; Hakonarson H; Hopkin RJ; Kaur M; Keating BJ; Kibaek M; Kinning E; Kleefstra T; Kline AD; Kuchinskaya E; Larizza L; Li YR; Liu X; Mariani M; Picker JD; Pié Á; Pozojevic J; Queralt E; Richer J; Roeder E; Sinha A; Scott RH; So J; Wusik KA; Wilson L; Zhang J; Gómez-Puertas P; Casale CH; Ström L; Selicorni A; Ramos FJ; Jackson LG; Krantz ID; Das S; Hennekam RC; Kaiser FJ; FitzPatrick DR; Pié J
Hum Mutat; 2015 Apr; 36(4):454-62. PubMed ID: 25655089
[TBL] [Abstract][Full Text] [Related]
7. Novel mosaic variants in two patients with Cornelia de Lange syndrome.
Pozojevic J; Parenti I; Graul-Neumann L; Ruiz Gil S; Watrin E; Wendt KS; Werner R; Strom TM; Gillessen-Kaesbach G; Kaiser FJ
Eur J Med Genet; 2018 Nov; 61(11):680-684. PubMed ID: 29155047
[TBL] [Abstract][Full Text] [Related]
8. NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severity.
Kaur M; Mehta D; Noon SE; Deardorff MA; Zhang Z; Krantz ID
Am J Med Genet C Semin Med Genet; 2016 Jun; 172(2):163-70. PubMed ID: 27125329
[TBL] [Abstract][Full Text] [Related]
9. Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.
Parenti I; Gervasini C; Pozojevic J; Graul-Neumann L; Azzollini J; Braunholz D; Watrin E; Wendt KS; Cereda A; Cittaro D; Gillessen-Kaesbach G; Lazarevic D; Mariani M; Russo S; Werner R; Krawitz P; Larizza L; Selicorni A; Kaiser FJ
Clin Genet; 2016 Jan; 89(1):74-81. PubMed ID: 25652421
[TBL] [Abstract][Full Text] [Related]
10. Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Kaur M; Blair J; Devkota B; Fortunato S; Clark D; Lawrence A; Kim J; Do W; Semeo B; Katz O; Mehta D; Yamamoto N; Schindler E; Al Rawi Z; Wallace N; Wilde JJ; McCallum J; Liu J; Xu D; Jackson M; Rentas S; Tayoun AA; Zhe Z; Abdul-Rahman O; Allen B; Angula MA; Anyane-Yeboa K; Argente J; Arn PH; Armstrong L; Basel-Salmon L; Baynam G; Bird LM; Bruegger D; Ch'ng GS; Chitayat D; Clark R; Cox GF; Dave U; DeBaere E; Field M; Graham JM; Gripp KW; Greenstein R; Gupta N; Heidenreich R; Hoffman J; Hopkin RJ; Jones KL; Jones MC; Kariminejad A; Kogan J; Lace B; Leroy J; Lynch SA; McDonald M; Meagher K; Mendelsohn N; Micule I; Moeschler J; Nampoothiri S; Ohashi K; Powell CM; Ramanathan S; Raskin S; Roeder E; Rio M; Rope AF; Sangha K; Scheuerle AE; Schneider A; Shalev S; Siu V; Smith R; Stevens C; Tkemaladze T; Toimie J; Toriello H; Turner A; Wheeler PG; White SM; Young T; Loomes KM; Pipan M; Harrington AT; Zackai E; Rajagopalan R; Conlin L; Deardorff MA; McEldrew D; Pie J; Ramos F; Musio A; Kline AD; Izumi K; Raible SE; Krantz ID
Am J Med Genet A; 2023 Aug; 191(8):2113-2131. PubMed ID: 37377026
[TBL] [Abstract][Full Text] [Related]
11. Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients.
Krawczynska N; Wierzba J; Jasiecki J; Wasag B
BMC Med Genet; 2019 Jan; 20(1):1. PubMed ID: 30606125
[TBL] [Abstract][Full Text] [Related]
12. A De novo HDAC2 variant in a patient with features consistent with Cornelia de Lange syndrome phenotype.
Wagner VF; Hillman PR; Britt AD; Ray JW; Farach LS
Am J Med Genet A; 2019 May; 179(5):852-856. PubMed ID: 30806031
[TBL] [Abstract][Full Text] [Related]
13. Cornelia de Lange Spectrum.
Ascaso Á; Arnedo M; Puisac B; Latorre-Pellicer A; Del Rincón J; Bueno-Lozano G; Pié J; Ramos FJ
An Pediatr (Engl Ed); 2024 May; 100(5):352-362. PubMed ID: 38735830
[TBL] [Abstract][Full Text] [Related]
14. A novel mosaic variant on
Gonzalez Garcia A; Malone J; Li H
Cold Spring Harb Mol Case Stud; 2020 Jun; 6(3):. PubMed ID: 32532882
[TBL] [Abstract][Full Text] [Related]
15. Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome.
Teresa-Rodrigo ME; Eckhold J; Puisac B; Dalski A; Gil-Rodríguez MC; Braunholz D; Baquero C; Hernández-Marcos M; de Karam JC; Ciero M; Santos-Simarro F; Lapunzina P; Wierzba J; Casale CH; Ramos FJ; Gillessen-Kaesbach G; Kaiser FJ; Pié J
Int J Mol Sci; 2014 Jun; 15(6):10350-64. PubMed ID: 24918291
[TBL] [Abstract][Full Text] [Related]
16. Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome.
Mei L; Liang D; Huang Y; Pan Q; Wu L
Gene; 2015 Jan; 555(2):476-80. PubMed ID: 25447906
[TBL] [Abstract][Full Text] [Related]
17. Cornelia de Lange syndrome.
Boyle MI; Jespersgaard C; Brøndum-Nielsen K; Bisgaard AM; Tümer Z
Clin Genet; 2015 Jul; 88(1):1-12. PubMed ID: 25209348
[TBL] [Abstract][Full Text] [Related]
18. Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome.
Woods SA; Robinson HB; Kohler LJ; Agamanolis D; Sterbenz G; Khalifa M
Am J Med Genet A; 2014 Jan; 164A(1):251-8. PubMed ID: 24352918
[TBL] [Abstract][Full Text] [Related]
19. 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]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
