261 related articles for article (PubMed ID: 17413424)
1. Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL.
Lalatta F; Russo S; Gentilin B; Spaccini L; Boschetto C; Cavalleri F; Masciadri M; Gervasini C; Bentivegna A; Castronovo P; Larizza L
Genet Med; 2007 Mar; 9(3):188-94. PubMed ID: 17413424
[TBL] [Abstract][Full Text] [Related]
2. Cornelia de lange syndrome: a recognizable fetal phenotype.
Wilmink FA; Papatsonis DN; Grijseels EW; Wessels MW
Fetal Diagn Ther; 2009; 26(1):50-3. PubMed ID: 19816032
[TBL] [Abstract][Full Text] [Related]
3. Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings.
Chong K; Keating S; Hurst S; Summers A; Berger H; Seaward G; Martin N; Friedberg T; Chitayat D
Prenat Diagn; 2009 May; 29(5):489-94. PubMed ID: 19242925
[TBL] [Abstract][Full Text] [Related]
4. Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally.
Dempsey MA; Knight Johnson AE; Swope BS; Moldenhauer JS; Sroka H; Chong K; Chitayat D; Briere L; Lyon H; Palmer N; Gopalani S; Siebert JR; Lévesque S; Leblanc J; Menzies D; Haverfield E; Das S
Prenat Diagn; 2014 Feb; 34(2):163-7. PubMed ID: 24218399
[TBL] [Abstract][Full Text] [Related]
5. Cornelia de Lange syndrome: antenatal diagnosis in two consecutive pregnancies due to rare gonadal mosaicism of NIPBL gene mutation.
Weichert J; Schröer A; Beyer DA; Gillessen-Kaesbach G; Stefanova I
J Matern Fetal Neonatal Med; 2011 Jul; 24(7):978-82. PubMed ID: 21338332
[TBL] [Abstract][Full Text] [Related]
6. A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.
Nizon M; Henry M; Michot C; Baumann C; Bazin A; Bessières B; Blesson S; Cordier-Alex MP; David A; Delahaye-Duriez A; Delezoïde AL; Dieux-Coeslier A; Doco-Fenzy M; Faivre L; Goldenberg A; Layet V; Loget P; Marlin S; Martinovic J; Odent S; Pasquier L; Plessis G; Prieur F; Putoux A; Rio M; Testard H; Bonnefont JP; Cormier-Daire V
Clin Genet; 2016 May; 89(5):584-9. PubMed ID: 26701315
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. A Novel Frameshift Mutation (c.5387_5388insTT) in
Kang MJ; Ahn SM; Hwang IT
Ann Clin Lab Sci; 2018 Jan; 48(1):106-109. PubMed ID: 29531005
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Ultrasound detection of eyelashes: a clue for prenatal diagnosis of Cornelia de Lange syndrome.
Spaggiari E; Vuillard E; Khung-Savatovsky S; Muller F; Oury JF; Delezoide AL; Guimiot F
Ultrasound Obstet Gynecol; 2013 Mar; 41(3):341-2. PubMed ID: 22903543
[No Abstract] [Full Text] [Related]
11. Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report.
Santoro C; Apicella A; Casale F; La Manna A; Di Martino M; Di Pinto D; Indolfi C; Perrotta S
BMC Cancer; 2016 Jun; 16():365. PubMed ID: 27291393
[TBL] [Abstract][Full Text] [Related]
12. Abnormal first-trimester fetal nuchal translucency and Cornelia De Lange syndrome.
Huang WH; Porto M
Obstet Gynecol; 2002 May; 99(5 Pt 2):956-8. PubMed ID: 11975974
[TBL] [Abstract][Full Text] [Related]
13. Fetal phenotype of Cornelia de Lange syndrome with a molecular confirmation.
Yu QX; Jing XY; Lin XM; Zhen L; Li DZ
Eur J Obstet Gynecol Reprod Biol; 2023 May; 284():16-19. PubMed ID: 36913886
[TBL] [Abstract][Full Text] [Related]
14. Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene.
Borck G; Zarhrate M; Cluzeau C; Bal E; Bonnefont JP; Munnich A; Cormier-Daire V; Colleaux L
Hum Mutat; 2006 Aug; 27(8):731-5. PubMed ID: 16799922
[TBL] [Abstract][Full Text] [Related]
15. Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome.
Yan J; Saifi GM; Wierzba TH; Withers M; Bien-Willner GA; Limon J; Stankiewicz P; Lupski JR; Wierzba J
Am J Med Genet A; 2006 Jul; 140(14):1531-41. PubMed ID: 16770807
[TBL] [Abstract][Full Text] [Related]
16. Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome.
Oliveira J; Dias C; Redeker E; Costa E; Silva J; Reis Lima M; den Dunnen JT; Santos R
Hum Mutat; 2010 Nov; 31(11):1216-22. PubMed ID: 20824775
[TBL] [Abstract][Full Text] [Related]
17. A case of third trimester diagnosis of Cornelia de Lange syndrome.
Kanellopoulos V; Iavazzo C; Tzanatou C; Papadakis E; Tassis K
Arch Gynecol Obstet; 2011 Jan; 283(1):59-63. PubMed ID: 19908052
[TBL] [Abstract][Full Text] [Related]
18. Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study.
Nallasamy S; Kherani F; Yaeger D; McCallum J; Kaur M; Devoto M; Jackson LG; Krantz ID; Young TL
Arch Ophthalmol; 2006 Apr; 124(4):552-7. PubMed ID: 16606884
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Cornelia de Lange Syndrome with NIPBL gene mutation: a case report.
Park KH; Lee ST; Ki CS; Byun SY
J Korean Med Sci; 2010 Dec; 25(12):1821-3. PubMed ID: 21165303
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]