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Quoted phrase not found in phrase index: "Acromesomelic dysplasia 1, Maroteaux type"
Page 1
Evaluation of polysomnography findings in children with genetic skeletal disorders.
Nayır Büyükşahin H, Emiralioglu N, Simşek Kiper PÖ, Sunman B, Güzelkaş I, Alboğa D, Akgül Erdal M, Boduroglu K, Utine GE, Yalcın E, Doğru D, Kiper N, Ozcelik U. Nayır Büyükşahin H, et al. J Sleep Res. 2023 Oct;32(5):e13914. doi: 10.1111/jsr.13914. Epub 2023 May 1. J Sleep Res. 2023. PMID: 37128177
We aimed to review polysomnography findings, to assess the severity of sleep apnea, and to investigate the clinical variables predictive of sleep-disordered breathing in these patients. We retrospectively collected the medical records of patients with genetic skeletal diso …
We aimed to review polysomnography findings, to assess the severity of sleep apnea, and to investigate the clinical variables predictive …
Acromesomelic dysplasia Maroteaux type maps to human chromosome 9.
Kant SG, Polinkovsky A, Mundlos S, Zabel B, Thomeer RT, Zonderland HM, Shih L, van Haeringen A, Warman ML. Kant SG, et al. Am J Hum Genet. 1998 Jul;63(1):155-62. doi: 10.1086/301917. Am J Hum Genet. 1998. PMID: 9634515 Free PMC article.
Acromesomelic dysplasias are skeletal disorders that disproportionately affect the middle and distal segments of the appendicular skeleton. We report genetic mapping studies in four families with acromesomelic dysplasia Maroteaux type (AMDM), an autoso …
Acromesomelic dysplasias are skeletal disorders that disproportionately affect the middle and distal segments of the appendicular skeleton. …
Short Stature is Progressive in Patients with Heterozygous NPR2 Mutations.
Hanley PC, Kanwar HS, Martineau C, Levine MA. Hanley PC, et al. J Clin Endocrinol Metab. 2020 Oct 1;105(10):3190-202. doi: 10.1210/clinem/dgaa491. J Clin Endocrinol Metab. 2020. PMID: 32720985 Free PMC article.
BACKGROUND: NPR2 encodes atrial natriuretic peptide receptor B (ANPRB), a regulator of skeletal growth. Biallelic loss-of-function mutations in NPR2 result in acromesomelic dysplasia Maroteaux type (AMDM; OMIM 602875), while heterozygous mutations may …
BACKGROUND: NPR2 encodes atrial natriuretic peptide receptor B (ANPRB), a regulator of skeletal growth. Biallelic loss-of-function mutations …
C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia.
Olney RC, Prickett TC, Espiner EA, Mackenzie WG, Duker AL, Ditro C, Zabel B, Hasegawa T, Kitoh H, Aylsworth AS, Bober MB. Olney RC, et al. J Clin Endocrinol Metab. 2015 Feb;100(2):E355-9. doi: 10.1210/jc.2014-2814. Epub 2014 Nov 11. J Clin Endocrinol Metab. 2015. PMID: 25387261
In a previous report of a child with acromesomelic dysplasia, Maroteaux type (AMDM), caused by loss-of-function of the CNP receptor (natriuretic peptide receptor-B [NPR-B]), plasma levels of CNP were elevated. ...RESULTS: Plasma levels of CNP and NTpro …
In a previous report of a child with acromesomelic dysplasia, Maroteaux type (AMDM), caused by loss-of-function …
Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature.
Vasques GA, Amano N, Docko AJ, Funari MF, Quedas EP, Nishi MY, Arnhold IJ, Hasegawa T, Jorge AA. Vasques GA, et al. J Clin Endocrinol Metab. 2013 Oct;98(10):E1636-44. doi: 10.1210/jc.2013-2142. Epub 2013 Sep 3. J Clin Endocrinol Metab. 2013. PMID: 24001744
CONTEXT: Based on the stature observed in relatives of patients with acromesomelic dysplasia, type Maroteaux, homozygous for mutations in natriuretic peptide receptor B gene (NPR2), it has been suggested that heterozygous mutations in this gene …
CONTEXT: Based on the stature observed in relatives of patients with acromesomelic dysplasia, type Maroteaux …
Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature.
Wang SR, Jacobsen CM, Carmichael H, Edmund AB, Robinson JW, Olney RC, Miller TC, Moon JE, Mericq V, Potter LR, Warman ML, Hirschhorn JN, Dauber A. Wang SR, et al. Hum Mutat. 2015 Apr;36(4):474-81. doi: 10.1002/humu.22773. Epub 2015 Mar 16. Hum Mutat. 2015. PMID: 25703509 Free PMC article.
Based on the observation of reduced stature in relatives of patients with acromesomelic dysplasia, Maroteaux type (AMDM), caused by homozygous or compound heterozygous mutations in natriuretic peptide receptor-B gene (NPR2), it has been suggeste …
Based on the observation of reduced stature in relatives of patients with acromesomelic dysplasia, Maroteaux …
Heterozygous mutations in natriuretic peptide receptor-B (NPR2) are associated with short stature.
Olney RC, Bükülmez H, Bartels CF, Prickett TC, Espiner EA, Potter LR, Warman ML. Olney RC, et al. J Clin Endocrinol Metab. 2006 Apr;91(4):1229-32. doi: 10.1210/jc.2005-1949. Epub 2005 Dec 29. J Clin Endocrinol Metab. 2006. PMID: 16384845
Loss-of-function mutations affecting the CNP receptor natriuretic peptide receptor-B (gene NPR2) cause the autosomal recessive skeletal dysplasia, acromesomelic dysplasia, Maroteaux type (AMDM). The phenotype of heterozygous carriers of NPR2 mutations …
Loss-of-function mutations affecting the CNP receptor natriuretic peptide receptor-B (gene NPR2) cause the autosomal recessive skeletal dysp …