123 related articles for article (PubMed ID: 38773883)
1. Functional studies in yeast confirm the pathogenicity of a new GINS3 Meier-Gorlin syndrome variant.
Mehrjoo Y; Campeau PM; Al Abdi L; Aldowaish A; Abouyousef O; Alkuraya FS; Codina-Solà M; Cueto-González AM; Wurtele H
Clin Genet; 2024 May; ():. PubMed ID: 38773883
[TBL] [Abstract][Full Text] [Related]
2. Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome.
McQuaid ME; Ahmed K; Tran S; Rousseau J; Shaheen R; Kernohan KD; Yuki KE; Grover P; Dreseris ES; Ahmed S; Dupuis L; Stimec J; Shago M; Al-Hassnan ZN; Tremblay R; Maass PG; Wilson MD; Grunebaum E; Boycott KM; Boisvert FM; Maddirevula S; Faqeih EA; Almanjomi F; Khan ZU; Alkuraya FS; Campeau PM; Kannu P; Campos EI; Wurtele H
JCI Insight; 2022 May; 7(10):. PubMed ID: 35603789
[TBL] [Abstract][Full Text] [Related]
3. Biallelic
Nabais Sá MJ; Miller KA; McQuaid M; Koelling N; Wilkie AOM; Wurtele H; de Brouwer APM; Oliveira J
J Med Genet; 2022 Aug; 59(8):776-780. PubMed ID: 34353863
[TBL] [Abstract][Full Text] [Related]
4. MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome.
Vetro A; Savasta S; Russo Raucci A; Cerqua C; Sartori G; Limongelli I; Forlino A; Maruelli S; Perucca P; Vergani D; Mazzini G; Mattevi A; Stivala LA; Salviati L; Zuffardi O
Eur J Hum Genet; 2017 May; 25(5):646-650. PubMed ID: 28198391
[TBL] [Abstract][Full Text] [Related]
5. A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis.
Knapp KM; Fellows B; Aggarwal S; Dalal A; Bicknell LS
Eur J Med Genet; 2021 Apr; 64(4):104182. PubMed ID: 33639314
[TBL] [Abstract][Full Text] [Related]
6. Linked-read genome sequencing identifies biallelic pathogenic variants in
Knapp KM; Sullivan R; Murray J; Gimenez G; Arn P; D'Souza P; Gezdirici A; Wilson WG; Jackson AP; Ferreira C; Bicknell LS
J Med Genet; 2020 Mar; 57(3):195-202. PubMed ID: 31784481
[TBL] [Abstract][Full Text] [Related]
7. Successful pregnancies in an adult with Meier-Gorlin syndrome harboring biallelic CDT1 variants.
Knapp KM; Murray J; Temple IK; Bicknell LS
Am J Med Genet A; 2021 Mar; 185(3):871-876. PubMed ID: 33338304
[TBL] [Abstract][Full Text] [Related]
8. MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency.
Knapp KM; Jenkins DE; Sullivan R; Harms FL; von Elsner L; Ockeloen CW; de Munnik S; Bongers EMHF; Murray J; Pachter N; Denecke J; Kutsche K; Bicknell LS
Eur J Hum Genet; 2021 Jul; 29(7):1110-1120. PubMed ID: 33654309
[TBL] [Abstract][Full Text] [Related]
9. The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome.
Nielsen-Dandoroff E; Ruegg MSG; Bicknell LS
Eur J Hum Genet; 2023 Aug; 31(8):859-868. PubMed ID: 37059840
[TBL] [Abstract][Full Text] [Related]
10. Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities.
Karaca E; Posey JE; Bostwick B; Liu P; Gezdirici A; Yesil G; Coban Akdemir Z; Bayram Y; Harms FL; Meinecke P; Alawi M; Bacino CA; Sutton VR; Kortüm F; Lupski JR
Am J Med Genet A; 2019 Oct; 179(10):2056-2066. PubMed ID: 31407851
[TBL] [Abstract][Full Text] [Related]
11. De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
Burrage LC; Charng WL; Eldomery MK; Willer JR; Davis EE; Lugtenberg D; Zhu W; Leduc MS; Akdemir ZC; Azamian M; Zapata G; Hernandez PP; Schoots J; de Munnik SA; Roepman R; Pearring JN; Jhangiani S; Katsanis N; Vissers LE; Brunner HG; Beaudet AL; Rosenfeld JA; Muzny DM; Gibbs RA; Eng CM; Xia F; Lalani SR; Lupski JR; Bongers EM; Yang Y
Am J Hum Genet; 2015 Dec; 97(6):904-13. PubMed ID: 26637980
[TBL] [Abstract][Full Text] [Related]
12. Microcephalic primordial dwarfism with predominant Meier-Gorlin phenotype, ichthyosis, and multiple joint deformities-Further expansion of DONSON Cell Cycle-opathy phenotypic spectrum.
Nerakh G; Vineeth VS; Tallapaka K; Nair L; Dalal A; Aggarwal S
Am J Med Genet A; 2022 Jul; 188(7):2139-2146. PubMed ID: 35298084
[TBL] [Abstract][Full Text] [Related]
13. Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.
de Munnik SA; Bicknell LS; Aftimos S; Al-Aama JY; van Bever Y; Bober MB; Clayton-Smith J; Edrees AY; Feingold M; Fryer A; van Hagen JM; Hennekam RC; Jansweijer MC; Johnson D; Kant SG; Opitz JM; Ramadevi AR; Reardon W; Ross A; Sarda P; Schrander-Stumpel CT; Schoots J; Temple IK; Terhal PA; Toutain A; Wise CA; Wright M; Skidmore DL; Samuels ME; Hoefsloot LH; Knoers NV; Brunner HG; Jackson AP; Bongers EM
Eur J Hum Genet; 2012 Jun; 20(6):598-606. PubMed ID: 22333897
[TBL] [Abstract][Full Text] [Related]
14. Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly.
Sabbagh Q; Tharreau M; Cenni C; Sanchez E; Ruiz-Pallares N; Alkar F; Amouroux C; David S; Prodhomme O; Leboucq N; Meunier I; Bessis D; Theron A; Barat-Houari M; Willems M
Eur J Med Genet; 2023 May; 66(5):104733. PubMed ID: 36842471
[TBL] [Abstract][Full Text] [Related]
15. Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.
Fenwick AL; Kliszczak M; Cooper F; Murray J; Sanchez-Pulido L; Twigg SR; Goriely A; McGowan SJ; Miller KA; Taylor IB; Logan C; ; Bozdogan S; Danda S; Dixon J; Elsayed SM; Elsobky E; Gardham A; Hoffer MJ; Koopmans M; McDonald-McGinn DM; Santen GW; Savarirayan R; de Silva D; Vanakker O; Wall SA; Wilson LC; Yuregir OO; Zackai EH; Ponting CP; Jackson AP; Wilkie AO; Niedzwiedz W; Bicknell LS
Am J Hum Genet; 2016 Jul; 99(1):125-38. PubMed ID: 27374770
[TBL] [Abstract][Full Text] [Related]
16. Novel Compound Heterozygous Variants in the
Zabnenkova V; Shchagina O; Makienko O; Matyushchenko G; Ryzhkova O
Appl Clin Genet; 2022; 15():1-10. PubMed ID: 35023948
[TBL] [Abstract][Full Text] [Related]
17. A second hotspot for pathogenic exon-skipping variants in CDC45.
Schoch K; Ruegg MSG; Fellows BJ; Cao J; Uhrig S; Einsele-Scholz S; Biskup S; Hawarden SRA; Salpietro V; Capra V; ; Brown CM; Accogli A; Shashi V; Bicknell LS
Eur J Hum Genet; 2024 Mar; ():. PubMed ID: 38467731
[TBL] [Abstract][Full Text] [Related]
18. Meier-Gorlin syndrome.
de Munnik SA; Hoefsloot EH; Roukema J; Schoots J; Knoers NV; Brunner HG; Jackson AP; Bongers EM
Orphanet J Rare Dis; 2015 Sep; 10():114. PubMed ID: 26381604
[TBL] [Abstract][Full Text] [Related]
19. Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.
de Munnik SA; Otten BJ; Schoots J; Bicknell LS; Aftimos S; Al-Aama JY; van Bever Y; Bober MB; Borm GF; Clayton-Smith J; Deal CL; Edrees AY; Feingold M; Fryer A; van Hagen JM; Hennekam RC; Jansweijer MC; Johnson D; Kant SG; Opitz JM; Ramadevi AR; Reardon W; Ross A; Sarda P; Schrander-Stumpel CT; Sluiter AE; Temple IK; Terhal PA; Toutain A; Wise CA; Wright M; Skidmore DL; Samuels ME; Hoefsloot LH; Knoers NV; Brunner HG; Jackson AP; Bongers EM
Am J Med Genet A; 2012 Nov; 158A(11):2733-42. PubMed ID: 23023959
[TBL] [Abstract][Full Text] [Related]
20. Dentofacial characteristics in a child with Meier-Gorlin syndrome: A rare case report.
Morankar RG; Goyal A; Gauba K; Kapur A
Saudi Dent J; 2018 Jul; 30(3):260-264. PubMed ID: 29942112
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
