115 related articles for article (PubMed ID: 27442045)
21. Otocephaly: prenatal diagnosis of a new case and etiopathogenetic considerations.
Ibba RM; Zoppi MA; Floris M; Putzolu M; Monni G; Todde PF; Sardu G
Am J Med Genet; 2000 Feb; 90(5):427-9. PubMed ID: 10706365
[No Abstract] [Full Text] [Related]
22. A Postzygotic SMO Mutation Caused the Original Case of Happle-Tinschert Syndrome.
Zenker M; Tinschert S; Wieland I; Schanze D; Happle R
Acta Derm Venereol; 2018 Apr; 98(5):534-535. PubMed ID: 29335739
[No Abstract] [Full Text] [Related]
23. Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.
Martinez F; Marín-Reina P; Sanchis-Calvo A; Perez-Aytés A; Oltra S; Roselló M; Mayo S; Monfort S; Pantoja J; Orellana C
Pediatr Res; 2015 Nov; 78(5):533-9. PubMed ID: 26200704
[TBL] [Abstract][Full Text] [Related]
24. Agnathia-otocephaly complex: a case report and examination of the OTX2 and PRRX1 genes.
Herman S; Delio M; Morrow B; Samanich J
Gene; 2012 Feb; 494(1):124-9. PubMed ID: 22198066
[TBL] [Abstract][Full Text] [Related]
25. Tracheobronchial complications in a preterm infant with agnathia-otocephaly.
Tamaki S; Iwatani S; Izumi A; Yoshida M; Yoshimoto S
Pediatr Int; 2021 Oct; 63(10):1262-1263. PubMed ID: 34322968
[No Abstract] [Full Text] [Related]
26. Prenatal diagnosis of otocephaly using two-dimensional and three-dimensional ultrasonography.
Lin HH; Liang RI; Chang FM; Chang CH; Yu CH; Yang HB
Ultrasound Obstet Gynecol; 1998 May; 11(5):361-3. PubMed ID: 9644778
[TBL] [Abstract][Full Text] [Related]
27. Prenatal ultrasound diagnosis in 51 cases of holoprosencephaly: craniofacial anatomy, associated malformations, and genetics.
Wenghoefer M; Ettema AM; Sina F; Geipel A; Kuijpers-Jagtman AM; Hansmann H; Borstlap WA; Bergé S
Cleft Palate Craniofac J; 2010 Jan; 47(1):15-21. PubMed ID: 19860496
[TBL] [Abstract][Full Text] [Related]
28. Three-dimensional ultrasound in prenatal diagnosis of isolated otocephaly.
Ducarme G; Largilliere C; Amarenco B; Davitian C; Bucourt M; Vazquez MP; Uzan M; Carbillon L
Prenat Diagn; 2007 May; 27(5):481-3. PubMed ID: 17471605
[No Abstract] [Full Text] [Related]
29. OTX2 mutations contribute to the otocephaly-dysgnathia complex.
Chassaing N; Sorrentino S; Davis EE; Martin-Coignard D; Iacovelli A; Paznekas W; Webb BD; Faye-Petersen O; Encha-Razavi F; Lequeux L; Vigouroux A; Yesilyurt A; Boyadjiev SA; Kayserili H; Loget P; Carles D; Sergi C; Puvabanditsin S; Chen CP; Etchevers HC; Katsanis N; Mercer CL; Calvas P; Jabs EW
J Med Genet; 2012 Jun; 49(6):373-9. PubMed ID: 22577225
[TBL] [Abstract][Full Text] [Related]
30. Recurrent agnathia-otocephaly caused by DNA replication slippage in PRRX1.
Dasouki M; Andrews B; Parimi P; Kamnasaran D
Am J Med Genet A; 2013 Apr; 161A(4):803-8. PubMed ID: 23444262
[TBL] [Abstract][Full Text] [Related]
31. Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype.
Dateki S; Kosaka K; Hasegawa K; Tanaka H; Azuma N; Yokoya S; Muroya K; Adachi M; Tajima T; Motomura K; Kinoshita E; Moriuchi H; Sato N; Fukami M; Ogata T
J Clin Endocrinol Metab; 2010 Feb; 95(2):756-64. PubMed ID: 19965921
[TBL] [Abstract][Full Text] [Related]
32. [Update on prenatal diagnosis of osteogenesis imperfecta type II : an index case report diagnosed by ultrasonography in the first trimester].
Buisson O; Senat MV; Laurenceau N; Ville Y
J Gynecol Obstet Biol Reprod (Paris); 2002 Nov; 31(7):672-6. PubMed ID: 12457140
[TBL] [Abstract][Full Text] [Related]
33. A case of agnathia-otocephaly complex assessed prenatally for ex utero intrapartum treatment (EXIT) by three-dimensional ultrasonography.
Umekawa T; Sugiyama T; Yokochi A; Suga S; Uchida K; Sagawa N
Prenat Diagn; 2007 Jul; 27(7):679-81. PubMed ID: 17497748
[No Abstract] [Full Text] [Related]
34. New SMARCE1 variant in a patient with features overlapping with oculoauriculofrontonasal syndrome.
Yano S; Fujimoto A; Morin-Leisk J; Matumoto N; Miyake N; Gillespie M; Gao H
Clin Genet; 2018 Nov; 94(5):487-488. PubMed ID: 30209809
[No Abstract] [Full Text] [Related]
35. A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome.
Niida Y; Mitani Y; Kuroda M; Yokoi A; Nakagawa H; Kato A
Congenit Anom (Kyoto); 2017 May; 57(3):86-88. PubMed ID: 27696664
[TBL] [Abstract][Full Text] [Related]
36. Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type-2.
El-Ruby M; El-Din Fayez A; El-Dessouky SH; Aglan MS; Mazen I; Ismail N; Afifi HH; Eid MM; Mostafa MI; Mehrez MI; Khalil Y; Zaki MS; Gaber KR; Abdel-Hamid MS; Abdel-Salam GMH
Am J Med Genet A; 2018 May; 176(5):1190-1194. PubMed ID: 29681084
[TBL] [Abstract][Full Text] [Related]
37. A Novel Frameshift Mutation in ESCO2 Gene in Roberts Syndrome.
Mengen E; Kotan LD; Ucakturk SA; Topaloglu AK; Yuksel B
J Coll Physicians Surg Pak; 2018 May; 28(5):403-405. PubMed ID: 29690975
[TBL] [Abstract][Full Text] [Related]
38. Prenatal diagnosis of pseudothalidomide syndrome in consecutive pregnancies of a consanguineous couple.
Petrikovsky BM; Gross B; Bialer M; Solamanzadeh K; Simhaee E
Ultrasound Obstet Gynecol; 1997 Dec; 10(6):425-8. PubMed ID: 9476331
[TBL] [Abstract][Full Text] [Related]
39. Roberts syndrome: first-trimester prenatal diagnosis.
Otaño L; Matayoshi T; Gadow EC
Prenat Diagn; 1996 Aug; 16(8):770-1. PubMed ID: 8878291
[No Abstract] [Full Text] [Related]
40. Re-focusing on Agnathia-Otocephaly complex.
Dubucs C; Chassaing N; Sergi C; Aubert-Mucca M; Attié-Bitach T; Lacombe D; Thauvin-Robinet C; Arpin S; Perez MJ; Cabrol C; Chen CP; Aziza J; Colin E; Martinovic J; Calvas P; Plaisancié J
Clin Oral Investig; 2021 Mar; 25(3):1353-1362. PubMed ID: 32643087
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
