Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1979 1
2001 1
2005 1
2009 1
2010 1
2011 1
2012 1
2013 1
2018 1
2019 3
2020 1
2022 1
2023 3
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

13 results

Results by year

Filters applied: . Clear all
Page 1
Monogenic Etiology of Hypertension.
Singh V, Van Why SK. Singh V, et al. Med Clin North Am. 2024 Jan;108(1):157-172. doi: 10.1016/j.mcna.2023.06.005. Epub 2023 Jul 27. Med Clin North Am. 2024. PMID: 37951648 Review.
11Beta-hydroxylase deficiency and other syndromes of mineralocorticoid excess as a rare cause of endocrine hypertension.
Melcescu E, Phillips J, Moll G, Subauste JS, Koch CA. Melcescu E, et al. Horm Metab Res. 2012 Nov;44(12):867-78. doi: 10.1055/s-0032-1321851. Epub 2012 Aug 29. Horm Metab Res. 2012. PMID: 22932914 Review.
Apart from primary aldosteronism, mineralocorticoid excess can be caused by congenital adrenal hyperplasia (CAH) due to mutations of the 11beta-hydroxylase and 17alpha-hydroxylase genes, by inactivating mutations of the glucocorticoid receptor gene (Chrousos syndrome), endogenous …
Apart from primary aldosteronism, mineralocorticoid excess can be caused by congenital adrenal hyperplasia (CAH) due to mutations of the 11b …
Associated syndromes in patients with Pierre Robin Sequence.
Karempelis P, Hagen M, Morrell N, Roby BB. Karempelis P, et al. Int J Pediatr Otorhinolaryngol. 2020 Apr;131:109842. doi: 10.1016/j.ijporl.2019.109842. Epub 2019 Dec 30. Int J Pediatr Otorhinolaryngol. 2020. PMID: 31927149
Additionally, 3 patients had central hypoventilation syndrome, 3 patients had Duane syndrome, 2 patients had Cornelia de Lange syndrome, 2 patients had Emanuel syndrome, 2 patients had Gordon syndrome, 2 patients had Mobius syndrome, 2 patients had Nager syndrome. . …
Additionally, 3 patients had central hypoventilation syndrome, 3 patients had Duane syndrome, 2 patients had Cornelia de Lange syndrome, 2 p …
Gordon syndrome and succinylcholine.
Puura A, Schultz R. Puura A, et al. J Inherit Metab Dis. 2005;28(6):1157-8. doi: 10.1007/s10545-005-0165-z. J Inherit Metab Dis. 2005. PMID: 16435216
We present a case of 6-year-old boy who developed severe hyperkalaemia and ventricular tachycardia after administration of succinylcholine. Ventricular tachycardia was defibrillated and Gordon syndrome, which was diagnosed subsequently, was treated successfully. Pae …
We present a case of 6-year-old boy who developed severe hyperkalaemia and ventricular tachycardia after administration of succinylcholine. …
Phenotypic and genetic heterogeneity of familial hyperkalaemic hypertension (Gordon syndrome).
Achard JM, Disse-Nicodeme S, Fiquet-Kempf B, Jeunemaitre X. Achard JM, et al. Clin Exp Pharmacol Physiol. 2001 Dec;28(12):1048-52. doi: 10.1046/j.1440-1681.2001.03575.x. Clin Exp Pharmacol Physiol. 2001. PMID: 11903313
Familial hyperkalaemic hypertension (FHH), also called pseudohypoaldosteronism type II (PHA2) or Gordon syndrome, is a rare Mendelian-form of low-renin hypertension. ...
Familial hyperkalaemic hypertension (FHH), also called pseudohypoaldosteronism type II (PHA2) or Gordon syndrome, is a rare Me …
Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family.
Zapata-Aldana E, Al-Mobarak SB, Karp N, Campbell C. Zapata-Aldana E, et al. Am J Med Genet A. 2019 Jun;179(6):1034-1041. doi: 10.1002/ajmg.a.61143. Epub 2019 Apr 1. Am J Med Genet A. 2019. PMID: 30938034 Review.
Heterozygous mutations in PIEZO2 may lead to other phenotypes like Gordon Syndrome and Marden Walker syndrome. In this report, we present a 3-generation family affected with DA5, who all carry a variant of unknown clinical significance c.8068A>C (p.Ser2690Arg) in …
Heterozygous mutations in PIEZO2 may lead to other phenotypes like Gordon Syndrome and Marden Walker syndrome. In this report, …
Instrumented arthrodesis for non-traumatic craniocervical instability in very young children.
Janjua MB, Hwang SW, Samdani AF, Pahys JM, Baaj AA, Härtl R, Greenfield JP. Janjua MB, et al. Childs Nerv Syst. 2019 Jan;35(1):97-106. doi: 10.1007/s00381-018-3876-9. Epub 2018 Jun 29. Childs Nerv Syst. 2019. PMID: 29959504
Diagnoses and indications included severe or secondary Chiari malformation, skeletal dysplastic syndromes, Klippel-Feil syndrome, Pierre Robin syndrome, Gordon syndrome, hemivertebra and atlantal occipitalization, basilar impression, and iatrogenic causes. ...
Diagnoses and indications included severe or secondary Chiari malformation, skeletal dysplastic syndromes, Klippel-Feil syndrome, Pierre Rob …
Crystal structure of domain-swapped STE20 OSR1 kinase domain.
Lee SJ, Cobb MH, Goldsmith EJ. Lee SJ, et al. Protein Sci. 2009 Feb;18(2):304-13. doi: 10.1002/pro.27. Protein Sci. 2009. PMID: 19177573 Free PMC article.
OSR1 and SPAK are key regulators of NKCCs (Na(+)/K(+)/2Cl(-) cotransporters) and activated by WNK family members (with-no-lysine kinase), mutations of which are known to cause Gordon syndrome, an autosomal dominant form of inherited hypertension. ...
OSR1 and SPAK are key regulators of NKCCs (Na(+)/K(+)/2Cl(-) cotransporters) and activated by WNK family members (with-no-lysine kinase), mu …
Lethal variant in the C2A domain may cause severe SYT1-associated neurodevelopmental disorder in the newborns.
Huang W, Yang Y, Che F, Wu H, Ma Y, Zhao Y. Huang W, et al. Neurogenetics. 2024 Jan;25(1):27-31. doi: 10.1007/s10048-023-00738-4. Epub 2023 Nov 6. Neurogenetics. 2024. PMID: 37930470
SYT1 variants perturb synaptic vesicle endocytosis and exocytosis, resulting in a series of neurodevelopmental disorders defined as Baker-Gordon syndrome. Herein, we report the case of a newborn with dysmorphic facial appearance, severe hypotonia, poor feeding, gast …
SYT1 variants perturb synaptic vesicle endocytosis and exocytosis, resulting in a series of neurodevelopmental disorders defined as Baker- …
13 results