213 related articles for article (PubMed ID: 34750192)
1. New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving
Romanelli Tavares VL; Guimarães-Ramos SL; Zhou Y; Masotti C; Ezquina S; Moreira DP; Buermans H; Freitas RS; Den Dunnen JT; Twigg SRF; Passos-Bueno MR
J Med Genet; 2022 Sep; 59(9):895-905. PubMed ID: 34750192
[TBL] [Abstract][Full Text] [Related]
2. Auriculocondylar syndrome: Pathogenesis, clinical manifestations and surgical therapies.
Li Q; Jiang Z; Zhang L; Cai S; Cai Z
J Formos Med Assoc; 2023 Sep; 122(9):822-842. PubMed ID: 37208246
[TBL] [Abstract][Full Text] [Related]
3. A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity.
Nabil A; El Shafei S; El Shakankiri NM; Habib A; Morsy H; Maddirevula S; Alkuraya FS
Eur J Med Genet; 2020 Jun; 63(6):103917. PubMed ID: 32201334
[TBL] [Abstract][Full Text] [Related]
4. A homozygous missense variant in the PLCB4 gene causes severe phenotype of auriculocondylar syndrome type 2.
El Fizazi K; Bouramtane A; Abbassi M; El Asri YA; Askander O; El Fahime M; Ouldim K; Ridal M; Bouguenouch L
Am J Med Genet A; 2023 Nov; 191(11):2673-2678. PubMed ID: 37596802
[TBL] [Abstract][Full Text] [Related]
5. Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.
Romanelli Tavares VL; Zechi-Ceide RM; Bertola DR; Gordon CT; Ferreira SG; Hsia GS; Yamamoto GL; Ezquina SA; Kokitsu-Nakata NM; Vendramini-Pittoli S; Freitas RS; Souza J; Raposo-Amaral CA; Zatz M; Amiel J; Guion-Almeida ML; Passos-Bueno MR
Am J Med Genet A; 2017 Apr; 173(4):938-945. PubMed ID: 28328130
[TBL] [Abstract][Full Text] [Related]
6. Loss-of-function of Endothelin receptor type A results in Oro-Oto-Cardiac syndrome.
Pritchard AB; Kanai SM; Krock B; Schindewolf E; Oliver-Krasinski J; Khalek N; Okashah N; Lambert NA; Tavares ALP; Zackai E; Clouthier DE
Am J Med Genet A; 2020 May; 182(5):1104-1116. PubMed ID: 32133772
[TBL] [Abstract][Full Text] [Related]
7. Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect.
Romanelli Tavares VL; Gordon CT; Zechi-Ceide RM; Kokitsu-Nakata NM; Voisin N; Tan TY; Heggie AA; Vendramini-Pittoli S; Propst EJ; Papsin BC; Torres TT; Buermans H; Capelo LP; den Dunnen JT; Guion-Almeida ML; Lyonnet S; Amiel J; Passos-Bueno MR
Eur J Hum Genet; 2015 Apr; 23(4):481-5. PubMed ID: 25026904
[TBL] [Abstract][Full Text] [Related]
8.
Hirsch N; Dahan I; D'haene E; Avni M; Vergult S; Vidal-García M; Magini P; Graziano C; Severi G; Bonora E; Nardone AM; Brancati F; Fernández-Jaén A; Rory OJ; Hallgrímsson B; Birnbaum RY
Genome Res; 2022 Jul; 32(7):1242-1253. PubMed ID: 35710300
[TBL] [Abstract][Full Text] [Related]
9. A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
Rieder MJ; Green GE; Park SS; Stamper BD; Gordon CT; Johnson JM; Cunniff CM; Smith JD; Emery SB; Lyonnet S; Amiel J; Holder M; Heggie AA; Bamshad MJ; Nickerson DA; Cox TC; Hing AV; Horst JA; Cunningham ML
Am J Hum Genet; 2012 May; 90(5):907-14. PubMed ID: 22560091
[TBL] [Abstract][Full Text] [Related]
10. Auriculocondylar syndrome 2 caused by a novel PLCB4 variant in a male Chinese neonate: A case report and review of the literature.
Zhang Y; Zhao Y; Dai L; Liu Y; Shi Z
Mol Genet Genomic Med; 2024 Apr; 12(4):e2441. PubMed ID: 38618928
[TBL] [Abstract][Full Text] [Related]
11. A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1.
Yanagi K; Morimoto N; Iso M; Abe Y; Okamura K; Nakamura T; Matsubara Y; Kaname T
J Hum Genet; 2021 Oct; 66(10):1029-1034. PubMed ID: 33723370
[TBL] [Abstract][Full Text] [Related]
12. Deletion of a conserved regulatory element required for Hmx1 expression in craniofacial mesenchyme in the dumbo rat: a newly identified cause of congenital ear malformation.
Quina LA; Kuramoto T; Luquetti DV; Cox TC; Serikawa T; Turner EE
Dis Model Mech; 2012 Nov; 5(6):812-22. PubMed ID: 22736458
[TBL] [Abstract][Full Text] [Related]
13. Bilateral choanal stenosis in auriculocondylar syndrome caused by a PLCB4 variant.
Peart LS; Gonzalez J; Bivona S; Latchman K; Torres L; ; Tekin M
Am J Med Genet A; 2022 Apr; 188(4):1307-1310. PubMed ID: 34995019
[TBL] [Abstract][Full Text] [Related]
14. Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.
Vegas N; Demir Z; Gordon CT; Breton S; Romanelli Tavares VL; Moisset H; Zechi-Ceide R; Kokitsu-Nakata NM; Kido Y; Marlin S; Gherbi Halem S; Meerschaut I; Callewaert B; Chung B; Revencu N; Lehalle D; Petit F; Propst EJ; Papsin BC; Phillips JH; Jakobsen L; Le Tanno P; Thévenon J; McGaughran J; Gerkes EH; Leoni C; Kroisel P; Tan TY; Henderson A; Terhal P; Basel-Salmon L; Alkindy A; White SM; Passos-Bueno MR; Pingault V; De Pontual L; Amiel J
Hum Mutat; 2022 May; 43(5):582-594. PubMed ID: 35170830
[TBL] [Abstract][Full Text] [Related]
15. Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.
Gordon CT; Vuillot A; Marlin S; Gerkes E; Henderson A; AlKindy A; Holder-Espinasse M; Park SS; Omarjee A; Sanchis-Borja M; Bdira EB; Oufadem M; Sikkema-Raddatz B; Stewart A; Palmer R; McGowan R; Petit F; Delobel B; Speicher MR; Aurora P; Kilner D; Pellerin P; Simon M; Bonnefont JP; Tobias ES; García-Miñaúr S; Bitner-Glindzicz M; Lindholm P; Meijer BA; Abadie V; Denoyelle F; Vazquez MP; Rotky-Fast C; Couloigner V; Pierrot S; Manach Y; Breton S; Hendriks YM; Munnich A; Jakobsen L; Kroisel P; Lin A; Kaban LB; Basel-Vanagaite L; Wilson L; Cunningham ML; Lyonnet S; Amiel J
J Med Genet; 2013 Mar; 50(3):174-86. PubMed ID: 23315542
[TBL] [Abstract][Full Text] [Related]
16. Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies.
Clouthier DE; Passos-Bueno MR; Tavares AL; Lyonnet S; Amiel J; Gordon CT
Am J Med Genet C Semin Med Genet; 2013 Nov; 163C(4):306-17. PubMed ID: 24123988
[TBL] [Abstract][Full Text] [Related]
17. Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.
Gordon CT; Petit F; Kroisel PM; Jakobsen L; Zechi-Ceide RM; Oufadem M; Bole-Feysot C; Pruvost S; Masson C; Tores F; Hieu T; Nitschké P; Lindholm P; Pellerin P; Guion-Almeida ML; Kokitsu-Nakata NM; Vendramini-Pittoli S; Munnich A; Lyonnet S; Holder-Espinasse M; Amiel J
Am J Hum Genet; 2013 Dec; 93(6):1118-25. PubMed ID: 24268655
[TBL] [Abstract][Full Text] [Related]
18. Prenatal diagnosis of auriculocondylar syndrome with a novel missense variant of GNAI3: a case report.
Liu X; Sun W; Wang J; Chu G; He R; Zhang B; Zhao Y
BMC Pregnancy Childbirth; 2021 Nov; 21(1):780. PubMed ID: 34789173
[TBL] [Abstract][Full Text] [Related]
19. Intercellular Genetic Interaction Between Irf6 and Twist1 during Craniofacial Development.
Fakhouri WD; Metwalli K; Naji A; Bakhiet S; Quispe-Salcedo A; Nitschke L; Kousa YA; Schutte BC
Sci Rep; 2017 Aug; 7(1):7129. PubMed ID: 28769044
[TBL] [Abstract][Full Text] [Related]
20. Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells.
Middelkamp S; van Heesch S; Braat AK; de Ligt J; van Iterson M; Simonis M; van Roosmalen MJ; Kelder MJ; Kruisselbrink E; Hochstenbach R; Verbeek NE; Ippel EF; Adolfs Y; Pasterkamp RJ; Kloosterman WP; Kuijk EW; Cuppen E
Genome Med; 2017 Jan; 9(1):9. PubMed ID: 28126037
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
