152 related articles for article (PubMed ID: 33496066)
1. Clinical and molecular characterization of four patients with Robinow syndrome from different families.
Rai A; Patil SJ; Srivastava P; Gaurishankar K; Phadke SR
Am J Med Genet A; 2021 Apr; 185(4):1105-1112. PubMed ID: 33496066
[TBL] [Abstract][Full Text] [Related]
2. DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.
White JJ; Mazzeu JF; Hoischen A; Bayram Y; Withers M; Gezdirici A; Kimonis V; Steehouwer M; Jhangiani SN; Muzny DM; Gibbs RA; ; van Bon BWM; Sutton VR; Lupski JR; Brunner HG; Carvalho CMB
Am J Hum Genet; 2016 Mar; 98(3):553-561. PubMed ID: 26924530
[TBL] [Abstract][Full Text] [Related]
3. Characterization of the Robinow syndrome skeletal phenotype, bone micro-architecture, and genotype-phenotype correlations with the osteosclerotic form.
Shayota BJ; Zhang C; Shypailo RJ; Mazzeu JF; Carvalho CMB; Sutton VR
Am J Med Genet A; 2020 Nov; 182(11):2632-2640. PubMed ID: 32888393
[TBL] [Abstract][Full Text] [Related]
4. Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation.
Danyel M; Kortüm F; Dathe K; Kutsche K; Horn D
Am J Med Genet A; 2018 Apr; 176(4):992-996. PubMed ID: 29575616
[TBL] [Abstract][Full Text] [Related]
5. Biallelic loss-of-function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome.
Birgmeier J; Esplin ED; Jagadeesh KA; Guturu H; Wenger AM; Chaib H; Buckingham JA; Bejerano G; Bernstein JA
Am J Med Genet A; 2018 Apr; 176(4):1030-1036. PubMed ID: 29575631
[TBL] [Abstract][Full Text] [Related]
6. Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.
Zhang C; Mazzeu JF; Eisfeldt J; Grochowski CM; White J; Akdemir ZC; Jhangiani SN; Muzny DM; Gibbs RA; Lindstrand A; Lupski JR; Sutton VR; Carvalho CMB
Am J Med Genet A; 2021 Dec; 185(12):3593-3600. PubMed ID: 33048444
[TBL] [Abstract][Full Text] [Related]
7. A novel de-novo WNT5A mutation in a Chinese patient with Robinow syndrome.
Xiong S; Chitayat D; Wei X; Zhu J; Lu W; Sun LM; Chopra M
Clin Dysmorphol; 2016 Oct; 25(4):186-9. PubMed ID: 27092434
[No Abstract] [Full Text] [Related]
8. De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype.
Roifman M; Marcelis CL; Paton T; Marshall C; Silver R; Lohr JL; Yntema HG; Venselaar H; Kayserili H; van Bon B; Seaward G; ; Brunner HG; Chitayat D
Clin Genet; 2015; 87(1):34-41. PubMed ID: 24716670
[TBL] [Abstract][Full Text] [Related]
9. Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome.
Schwartz DD; Fein RH; Carvalho CMB; Sutton VR; Mazzeu JF; Axelrad ME
Am J Med Genet A; 2021 Dec; 185(12):3576-3583. PubMed ID: 32954672
[TBL] [Abstract][Full Text] [Related]
10. Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.
Lima AR; Ferreira BM; Zhang C; Jolly A; Du H; White JJ; Dawood M; Lins TC; Chiabai MA; van Beusekom E; Cordoba MS; Caldas Rosa ECC; Kayserili H; Kimonis V; Wu E; Mellado C; Aggarwal V; Richieri-Costa A; Brunoni D; Canó TM; Jorge AAL; Kim CA; Honjo R; Bertola DR; Dandalo-Girardi RM; Bayram Y; Gezdirici A; Yilmaz-Gulec E; Gumus E; Yilmaz GC; Okamoto N; Ohashi H; Coban-Akdemir Z; Mitani T; Jhangiani SN; Muzny DM; Regattieri NAP; Pogue R; Pereira RW; Otto PA; Gibbs RA; Ali BR; van Bokhoven H; Brunner HG; Sutton VR; Lupski JR; Vianna-Morgante AM; Carvalho CMB; Mazzeu JF
Hum Mutat; 2022 Jul; 43(7):900-918. PubMed ID: 35344616
[TBL] [Abstract][Full Text] [Related]
11. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
White JJ; Mazzeu JF; Coban-Akdemir Z; Bayram Y; Bahrambeigi V; Hoischen A; van Bon BWM; Gezdirici A; Gulec EY; Ramond F; Touraine R; Thevenon J; Shinawi M; Beaver E; Heeley J; Hoover-Fong J; Durmaz CD; Karabulut HG; Marzioglu-Ozdemir E; Cayir A; Duz MB; Seven M; Price S; Ferreira BM; Vianna-Morgante AM; Ellard S; Parrish A; Stals K; Flores-Daboub J; Jhangiani SN; Gibbs RA; ; Brunner HG; Sutton VR; Lupski JR; Carvalho CMB
Am J Hum Genet; 2018 Jan; 102(1):27-43. PubMed ID: 29276006
[TBL] [Abstract][Full Text] [Related]
12. Extremity anomalies associated with Robinow syndrome.
Abu-Ghname A; Trost J; Davis MJ; Sutton VR; Zhang C; Guillen DE; Carvalho CMB; Maricevich RS
Am J Med Genet A; 2021 Dec; 185(12):3584-3592. PubMed ID: 32974972
[TBL] [Abstract][Full Text] [Related]
13. Abnormal WNT5A Signaling Causes Mandibular Hypoplasia in Robinow Syndrome.
Hosseini-Farahabadi S; Gignac SJ; Danescu A; Fu K; Richman JM
J Dent Res; 2017 Oct; 96(11):1265-1272. PubMed ID: 28662348
[TBL] [Abstract][Full Text] [Related]
14. Craniofacial phenotypes associated with Robinow syndrome.
Conlon CJ; Abu-Ghname A; Raghuram AC; Davis MJ; Guillen DE; Sutton VR; Carvalho CMB; Maricevich RS
Am J Med Genet A; 2021 Dec; 185(12):3606-3612. PubMed ID: 33237614
[TBL] [Abstract][Full Text] [Related]
15. Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.
Bunn KJ; Daniel P; Rösken HS; O'Neill AC; Cameron-Christie SR; Morgan T; Brunner HG; Lai A; Kunst HP; Markie DM; Robertson SP
Am J Hum Genet; 2015 Apr; 96(4):623-30. PubMed ID: 25817014
[TBL] [Abstract][Full Text] [Related]
16. Autosomal recessive Robinow syndrome with novel ROR2 variants: distinct cases exhibiting the clinical variability.
Kirat E; Mutlu Albayrak H; Sahinoglu B; Gurler AI; Karaer K
Clin Dysmorphol; 2020 Jul; 29(3):137-140. PubMed ID: 32195677
[No Abstract] [Full Text] [Related]
17. DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.
White J; Mazzeu JF; Hoischen A; Jhangiani SN; Gambin T; Alcino MC; Penney S; Saraiva JM; Hove H; Skovby F; Kayserili H; Estrella E; Vulto-van Silfhout AT; Steehouwer M; Muzny DM; Sutton VR; Gibbs RA; ; Lupski JR; Brunner HG; van Bon BW; Carvalho CM
Am J Hum Genet; 2015 Apr; 96(4):612-22. PubMed ID: 25817016
[TBL] [Abstract][Full Text] [Related]
18. Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations.
Aglan M; Amr K; Ismail S; Ashour A; Otaify GA; Mehrez MA; Aboul-Ezz EH; El-Ruby M; Mazen I; Abdel-Hamid MS; Temtamy SA
Am J Med Genet A; 2015 Dec; 167A(12):3054-61. PubMed ID: 26284319
[TBL] [Abstract][Full Text] [Related]
19. Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome.
Schwabe GC; Trepczik B; Süring K; Brieske N; Tucker AS; Sharpe PT; Minami Y; Mundlos S
Dev Dyn; 2004 Feb; 229(2):400-10. PubMed ID: 14745966
[TBL] [Abstract][Full Text] [Related]
20. Canine DVL2 variant contributes to brachycephalic phenotype and caudal vertebral anomalies.
Niskanen JE; Reunanen V; Salonen M; Bannasch D; Lappalainen AK; Lohi H; Hytönen MK
Hum Genet; 2021 Nov; 140(11):1535-1545. PubMed ID: 33599851
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
