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525 results

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Quoted phrase not found in phrase index: "Developmental anomaly of metabolic origin"
Page 1
Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.
Castella M, Pujol R, Callén E, Trujillo JP, Casado JA, Gille H, Lach FP, Auerbach AD, Schindler D, Benítez J, Porto B, Ferro T, Muñoz A, Sevilla J, Madero L, Cela E, Beléndez C, de Heredia CD, Olivé T, de Toledo JS, Badell I, Torrent M, Estella J, Dasí A, Rodríguez-Villa A, Gómez P, Barbot J, Tapia M, Molinés A, Figuera A, Bueren JA, Surrallés J. Castella M, et al. Blood. 2011 Apr 7;117(14):3759-69. doi: 10.1182/blood-2010-08-299917. Epub 2011 Jan 27. Blood. 2011. PMID: 21273304 Free PMC article.
Fanconi anemia is characterized by congenital abnormalities, bone marrow failure, and cancer predisposition. To investigate the origin, functional role, and clinical impact of FANCA mutations, we determined a FANCA mutational spectrum with 130 pathogenic alle …
Fanconi anemia is characterized by congenital abnormalities, bone marrow failure, and cancer predisposition. To investigate th …
Fetal cytomegalovirus infection.
Leruez-Ville M, Ville Y. Leruez-Ville M, et al. Best Pract Res Clin Obstet Gynaecol. 2017 Jan;38:97-107. doi: 10.1016/j.bpobgyn.2016.10.005. Epub 2016 Oct 20. Best Pract Res Clin Obstet Gynaecol. 2017. PMID: 27923540 Review.
Cytomegalovirus (CMV) congenital infection affects 0.7% of live births worldwide and is the leading cause of congenital neurological handicap of infectious origin. ...This review provides an update on the evidence for diagnosis, prognosis and treatment of …
Cytomegalovirus (CMV) congenital infection affects 0.7% of live births worldwide and is the leading cause of congenital neurol …
Epigenetics in epilepsy.
Kobow K, Blümcke I. Kobow K, et al. Neurosci Lett. 2018 Feb 22;667:40-46. doi: 10.1016/j.neulet.2017.01.012. Epub 2017 Jan 19. Neurosci Lett. 2018. PMID: 28111355 Review.
However, progression of seizure activity as well as the development of drug-resistance remains difficult to predict, irrespective of the underlying epileptogenic condition, i.e., traumatic brain injury, developmental brain lesions, brain tumors or genetic inheritanc …
However, progression of seizure activity as well as the development of drug-resistance remains difficult to predict, irrespective of …
Etiologies of uterine malformations.
Jacquinet A, Millar D, Lehman A. Jacquinet A, et al. Am J Med Genet A. 2016 Aug;170(8):2141-72. doi: 10.1002/ajmg.a.37775. Epub 2016 Jun 8. Am J Med Genet A. 2016. PMID: 27273803 Review.
Sequencing of candidate genes in series of individuals with isolated uterine abnormalities has been able to suggest an association for several genes, but confirmation of a strong causative effect is still lacking for the majority of them. We review the current state of kno …
Sequencing of candidate genes in series of individuals with isolated uterine abnormalities has been able to suggest an association fo …
NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice.
Jennings MJ, Kagiava A, Vendredy L, Spaulding EL, Stavrou M, Hathazi D, Grüneboom A, De Winter V, Gess B, Schara U, Pogoryelova O, Lochmüller H, Borchers CH, Roos A, Burgess RW, Timmerman V, Kleopa KA, Horvath R. Jennings MJ, et al. Brain. 2022 Nov 21;145(11):3999-4015. doi: 10.1093/brain/awac055. Brain. 2022. PMID: 35148379 Free PMC article.
The severity of neuropathy in the patients was assessed by the CMT Neuropathy Examination Score (CMTES). We performed multitargeted proteomics on both sample sets to identify proteins elevated across multiple mouse models and CMT patients. ...We also identify serum GDF15 a …
The severity of neuropathy in the patients was assessed by the CMT Neuropathy Examination Score (CMTES). We performed multitargeted p …
Rathke's cleft cysts.
Trifanescu R, Ansorge O, Wass JA, Grossman AB, Karavitaki N. Trifanescu R, et al. Clin Endocrinol (Oxf). 2012 Feb;76(2):151-60. doi: 10.1111/j.1365-2265.2011.04235.x. Clin Endocrinol (Oxf). 2012. PMID: 21951110 Review.
Rathke's cleft cysts (RCCs) are benign, sellar and/or suprasellar lesions originating from the remnants of Rathke's pouch. Although a common finding in routine autopsies (12-33% of normal pituitary glands), symptomatic cases are rare and comprise 5-15% of all surgically re …
Rathke's cleft cysts (RCCs) are benign, sellar and/or suprasellar lesions originating from the remnants of Rathke's pouch. Although a …
Cranial Pair 0: The Nervus Terminalis.
Peña-Melián Á, Cabello-de la Rosa JP, Gallardo-Alcañiz MJ, Vaamonde-Gamo J, Relea-Calatayud F, González-López L, Villanueva-Anguita P, Flores-Cuadrado A, Saiz-Sánchez D, Martínez-Marcos A. Peña-Melián Á, et al. Anat Rec (Hoboken). 2019 Mar;302(3):394-404. doi: 10.1002/ar.23826. Epub 2018 May 17. Anat Rec (Hoboken). 2019. PMID: 29663690 Free article. Review.
Developmentally, the nervus terminalis is clearly observed in human embryos; subsequently, during the fetal period loses some of its ganglion cells, and it is less recognizable in adults. Fibers originating in the nasal cavity passes into the cranium through the mid …
Developmentally, the nervus terminalis is clearly observed in human embryos; subsequently, during the fetal period loses some of its …
Ciliary Signalling and Mechanotransduction in the Pathophysiology of Craniosynostosis.
Tiberio F, Parolini O, Lattanzi W. Tiberio F, et al. Genes (Basel). 2021 Jul 14;12(7):1073. doi: 10.3390/genes12071073. Genes (Basel). 2021. PMID: 34356089 Free PMC article. Review.
Interestingly, a prevalent implication of midline sutures is observed in CS ciliopathies, possibly explained by the specific neural crest origin of the frontal bone....
Interestingly, a prevalent implication of midline sutures is observed in CS ciliopathies, possibly explained by the specific neural c …
Peroxisomal disorders.
Moser HW, Bergin A, Cornblath D. Moser HW, et al. Biochem Cell Biol. 1991 Jul;69(7):463-74. doi: 10.1139/o91-070. Biochem Cell Biol. 1991. PMID: 1724376 Review.
The recognition that the organelle is significant in mammals was ushered in by Paul Lazarow's observation that rat peroxisomes catalyze the beta-oxidation of fatty acids. ...Disturbances of very long chain fatty acid and ether phospholipid metabolism are present in …
The recognition that the organelle is significant in mammals was ushered in by Paul Lazarow's observation that rat peroxisomes cataly …
Effect of maternal PCOS and PCOS-like phenotype on the offspring's health.
Puttabyatappa M, Cardoso RC, Padmanabhan V. Puttabyatappa M, et al. Mol Cell Endocrinol. 2016 Nov 5;435:29-39. doi: 10.1016/j.mce.2015.11.030. Epub 2015 Nov 27. Mol Cell Endocrinol. 2016. PMID: 26639019 Free PMC article. Review.
Polycystic ovary syndrome (PCOS) is a heterogeneous endocrine disorder with both reproductive and metabolic abnormalities affecting women of reproductive age. While the exact origin of PCOS is unknown, observations from clinical and animal studies sugg …
Polycystic ovary syndrome (PCOS) is a heterogeneous endocrine disorder with both reproductive and metabolic abnormalities affe …
525 results