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Meier-Gorlin syndrome.
de Munnik SA, Hoefsloot EH, Roukema J, Schoots J, Knoers NV, Brunner HG, Jackson AP, Bongers EM. de Munnik SA, et al. Orphanet J Rare Dis. 2015 Sep 17;10:114. doi: 10.1186/s13023-015-0322-x. Orphanet J Rare Dis. 2015. PMID: 26381604 Free PMC article. Review.
Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. ...
Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, pate
The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome.
Nielsen-Dandoroff E, Ruegg MSG, Bicknell LS. Nielsen-Dandoroff E, et al. Eur J Hum Genet. 2023 Aug;31(8):859-868. doi: 10.1038/s41431-023-01359-z. Epub 2023 Apr 14. Eur J Hum Genet. 2023. PMID: 37059840 Free PMC article. Review.
Consequently, this hypothesis-free testing manner has revealed the true breadth of clinical features for many established genetic disorders, including Meier-Gorlin syndrome (MGORS). Previously known as ear-patella short stature syndrome, MGORS is characterize …
Consequently, this hypothesis-free testing manner has revealed the true breadth of clinical features for many established genetic disorders, …
Further delineation of CDC45-related Meier-Gorlin syndrome with craniosynostosis and review of literature.
Ting CY, Bhatia NS, Lim JY, Goh CJ, Vasanwala RF, Ong CC, Seow WT, Yeow VK, Ting TW, Ng IS, Jamuar SS. Ting CY, et al. Eur J Med Genet. 2020 Feb;63(2):103652. doi: 10.1016/j.ejmg.2019.04.009. Epub 2019 Apr 13. Eur J Med Genet. 2020. PMID: 30986546 Review.
Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by the triad of short stature, microtia and absent or small patellae. ...
Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by the triad of short stature, microti
Meier-Gorlin syndrome: report of eight additional cases and review.
Bongers EM, Opitz JM, Fryer A, Sarda P, Hennekam RC, Hall BD, Superneau DW, Harbison M, Poss A, van Bokhoven H, Hamel BC, Knoers NV. Bongers EM, et al. Am J Med Genet. 2001 Aug 1;102(2):115-24. doi: 10.1002/ajmg.1452. Am J Med Genet. 2001. PMID: 11477602 Review.
The Meier-Gorlin syndrome or ear, patella, short stature syndrome (MIM 224690) is a rare autosomal recessive disorder, characterized by the association of bilateral microtia, aplasia/hypoplasia of the patellae, and severe pre- and postnatal growth retardation …
The Meier-Gorlin syndrome or ear, patella, short stature syndrome (MIM 224690) is a rare autosomal recessive disorder, …
Mechanisms and pathways of growth failure in primordial dwarfism.
Klingseisen A, Jackson AP. Klingseisen A, et al. Genes Dev. 2011 Oct 1;25(19):2011-24. doi: 10.1101/gad.169037. Genes Dev. 2011. PMID: 21979914 Free PMC article. Review.
Primordial dwarfism is a group of human single-gene disorders with extreme global growth failure (which includes Seckel syndrome, microcephalic osteodysplastic primordial dwarfism I [MOPD] types I and II, and Meier-Gorlin syndrome). Ten genes have now been id …
Primordial dwarfism is a group of human single-gene disorders with extreme global growth failure (which includes Seckel syndrome, microcepha …
Primordial dwarfism: overview of clinical and genetic aspects.
Khetarpal P, Das S, Panigrahi I, Munshi A. Khetarpal P, et al. Mol Genet Genomics. 2016 Feb;291(1):1-15. doi: 10.1007/s00438-015-1110-y. Epub 2015 Sep 1. Mol Genet Genomics. 2016. PMID: 26323792 Review.
Primordial dwarfism is a group of genetic disorders which include Seckel Syndrome, Silver-Russell Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism types I/III, II and Meier-Gorlin Syndrome. This genetic disorder group is characterized by intra-uter …
Primordial dwarfism is a group of genetic disorders which include Seckel Syndrome, Silver-Russell Syndrome, Microcephalic Osteodysplastic Pr …
Molecular and cellular basis of autosomal recessive primary microcephaly.
Barbelanne M, Tsang WY. Barbelanne M, et al. Biomed Res Int. 2014;2014:547986. doi: 10.1155/2014/547986. Epub 2014 Dec 8. Biomed Res Int. 2014. PMID: 25548773 Free PMC article. Review.
MCPH is genetically heterogeneous and can exhibit additional clinical features that overlap with related disorders including Seckel syndrome, Meier-Gorlin syndrome, and microcephalic osteodysplastic dwarfism. ...
MCPH is genetically heterogeneous and can exhibit additional clinical features that overlap with related disorders including Seckel syndrome …
Human syndromes with congenital patellar anomalies and the underlying gene defects.
Bongers EM, van Kampen A, van Bokhoven H, Knoers NV. Bongers EM, et al. Clin Genet. 2005 Oct;68(4):302-19. doi: 10.1111/j.1399-0004.2005.00508.x. Clin Genet. 2005. PMID: 16143015 Review.
In this review, the phenotype and gene defects of syndromes with congenital patellar aplasia or hypoplasia will be discussed, including the nail patella syndrome, small patella syndrome, isolated patella aplasia hypoplasia, Meier-Gorlin syndrome, RAPADILINO s …
In this review, the phenotype and gene defects of syndromes with congenital patellar aplasia or hypoplasia will be discussed, including the …
The origin recognition complex in human diseases.
Shen Z. Shen Z. Biosci Rep. 2013 Jun 11;33(3):e00044. doi: 10.1042/BSR20130036. Biosci Rep. 2013. PMID: 23662735 Free PMC article. Review.
Notably, a number of reports connect ORC to numerous human diseases, including MGS (Meier-Gorlin syndrome), EBV (Epstein-Barr virus)-infected diseases, American trypanosomiasis and African trypanosomiasis. ...
Notably, a number of reports connect ORC to numerous human diseases, including MGS (Meier-Gorlin syndrome), EBV (Epstei …
12 results