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Abbreviation : SW
Long Form : salt-wasting
No. Year Title Co-occurring Abbreviation
2021 A novel 9 bp deletion (c.1271_1279delGTGCCCGCG) in exon 10 of CYP21A2 gene causing severe congenital adrenal hyperplasia. CAH, SV
2021 Aldosterone signaling defect in young infants: single-center report and review. ALD, CAH
2021 Analysis of the Screening Results for Congenital Adrenal Hyperplasia Involving 7.85 Million Newborns in China: A Systematic Review and Meta-Analysis. CAH, CI, SV
2021 Challenges of CYP21A2 genotyping in children with 21-hydroxylase deficiency: determination of genotype-phenotype correlation using next generation sequencing in Southeastern Anatolia. NC, NGS, SV
2021 Clinical outcomes in 21-hydroxylase deficiency. ---
2021 Congenital Adrenal Hyperplasia (CAH) and Gitelman Syndrome (GS): Overlapping Symptoms in an Uncommon Association. CAH, GS
2021 Genetic aetiology of primary adrenal insufficiency in Chinese children. CAH, DHEAS, NC, PAI, SV, TES
2021 Genotypic spectrum of 21-hydroxylase deficiency in an endogamous population. CAH, CYP21, PCR, SV
2021 Prevalence and ultrasound patterns of testicular adrenal rest tumors in adults with congenital adrenal hyperplasia. CAH, CD, CEUS, NC, TARTs, US
10  2021 The validity of the Bayley-Pinneau method in predicting final adult height at the onset of puberty in patients with classic congenital adrenal hyperplasia. BA, CAH, FAH, PAH, SV
11  2020 Assessment of health-related quality of life in Egyptian children and adolescents with congenital adrenal hyperplasia. CAH, HRQOL, QoL, WHO
12  2020 Assessment of medication adherence in children and adults with congenital adrenal hyperplasia and the impact of knowledge and self-management. CAH, NC, SV
13  2020 Behavioral assessment of females with congenital adrenal hyperplasia. BA, CAH, SDQ, SV
14  2020 Late diagnosis of 3β-Hydroxysteroid dehydrogenase deficiency: the pivotal role of gas chromatography-mass spectrometry urinary steroid metabolome analysis and a novel homozygous nonsense mutation in the HSD3B2 gene. 3beta-HSD, DSD, GC-MS
15  2020 Timing of hyponatremia development in patients with salt-wasting-type 21-hydroxylase deficiency. NBS
16  2020 Update on the Swedish Newborn Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency. CAH, DBS, PPV, SV
17  2020 [Analysis of the degree of clinical suspect in patients with congenital adrenal hyperplasia by 21-hydroxylase deficiency before obtaining the result of the newborn screening program of the autonomous Community of Madrid.] SV
18  2019 Analysis of phenotypes and genotypes in 84 patients with 21-Hydroxylase deficiency in southern China. 21-OHD, CAH, SV
19  2019 Clinical perspectives in congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase type 2 deficiency. 3betaHSD2D, CAH, DHEA
20  2019 CYP21A2 Gene Pathogenic Variants: A Multicenter Study on Genotype-Phenotype Correlation from a Portuguese Pediatric Cohort. CAH, NC, SV
21  2019 Evaluation of the Dutch neonatal screening for congenital adrenal hyperplasia. CAH, SV
22  2019 Genotype-phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21-hydroxylase deficiency. 21OHD, NC, SV
23  2019 Identification of novel and rare CYP21A2 variants in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 21-OHD
24  2019 Long-term follow-up of children with classic congenital adrenal hyperplasia: suggestions for age dependent treatment in childhood and puberty. BA, CAH, FH, HC, HSDS-THSDS, SDSs, SV, THSDSs
25  2019 The distribution of intrafamilial CYP21A2 mutant alleles and investigation of clinical features in Turkish children and their siblings in Southeastern Anatolia. NCCAH, SV
26  2019 The Spectrum of Genetic Defects in Congenital Adrenal Hyperplasia in the Population of Cyprus: A Retrospective Analysis. CAH, IQR, NC, SV
27  2018 Clinical presentation and mutational spectrum in a series of 166 patients with classical 21-hydroxylase deficiency from South China. CAH, CYP21A2, I2G, MLPA, SV
28  2018 Cognitive function in children with classic congenital adrenal hyperplasia. CAH, FS, IQ, SBST4
29  2018 Genotype Is Associated to the Degree of Virilization in Patients With Classic Congenital Adrenal Hyperplasia. CAH, SV
30  2018 Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants CAH, DBS
31  2018 Phenotypic Variation of 46,XX Late Identified Congenital Adrenal Hyperplasia among Indonesians. CAH, SD, SV
32  2017 Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening. CAH, SV
33  2017 Intima media thickness of common carotids and abdominal aorta in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in relation to their genotypes. AIMT, CAH, FAI, NC, SV
34  2017 Long-term Consequences of Congenital Adrenal Hyperplasia due to Classic 21-hydroxylase Deficiency in Adolescents and Adults. CAH, SV
35  2017 Obesity in children with congenital adrenal hyperplasia in the Minnesota cohort: importance of adjusting body mass index for height-age. BMI, BMIHA, CAH, HC, SV
36  2017 Reduced Frequency of Biological and Increased Frequency of Adopted Children in Males With 21-Hydroxylase Deficiency: A Swedish Population-Based National Cohort Study. CI, NC, OR, SV
37  2016 Growth curves for congenital adrenal hyperplasia from a national retrospective cohort. CAH, OR, SV
38  2016 Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia. SV
39  2016 Neonatal mass screening for 21-hydroxylase deficiency. CAH, NC, PPV, SV
40  2016 Newborn screening for congenital adrenal hyperplasia in New York State. CAH, NBS, NYS, SV
41  2016 Syndrome-Related Stigma in the General Social Environment as Reported by Women with Classical Congenital Adrenal Hyperplasia. CAH, SV
42  2015 Congenital adrenal hyperplasia and risk for psychiatric disorders in girls and women born between 1915 and 2010: A total population study. CAH, NC, SV
43  2015 Direct Molecular Diagnosis of CYP21A2 Point Mutations in Macedonian and Serbian Patients with 21-Hydroxylase Deficiency. CAH, SV
44  2015 Research Resource: Correlating Human Cytochrome P450 21A2 Crystal Structure and Phenotypes of Mutations in Congenital Adrenal Hyperplasia. CAH, NC, SV
45  2014 Functional studies of novel CYP21A2 mutations detected in Norwegian patients with congenital adrenal hyperplasia. CAH, NC, SV
46  2014 Increased mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. CAH
47  2014 Results from 28 years of newborn screening for congenital adrenal hyperplasia in sapporo. CAH, HPLC, MS, NC, SV
48  2014 Suboptimal psychosocial outcomes in patients with congenital adrenal hyperplasia: epidemiological studies in a nonbiased national cohort in Sweden. CAH, OR
49  2013 A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ASO-PCR, CAH, MLPA, NC, SV
50  2013 No evidence of an increase in early infant mortality from congenital adrenal hyperplasia in the absence of screening. CAH
51  2012 A girl with 45,X/46,XX Turner syndrome and salt wasting form of congenital adrenal hyperplasia due to regulatory changes. CAH, MLPA
52  2011 Fertility, sexuality and testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia. CAH, TARTs
53  2011 High frequency of adrenal myelolipomas and testicular adrenal rest tumours in adult Norwegian patients with classical congenital adrenal hyperplasia because of 21-hydroxylase deficiency. CT, SV, TART
54  2011 Molecular testing in congenital adrenal hyperplasia due to 21alpha-hydroxylase deficiency in the era of newborn screening. 21alpha-OHase, CAH, NBS, SV
55  2011 Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia. CAH, NC, RFLP
56  2010 Carrier detection and prenatal diagnosis of congenital adrenal hyperplasia must identify 'apparently mild' CYP21A2 alleles which associate neonatal salt-wasting disease. CAH
57  2010 Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in the pre-screening era. SV
58  2010 Zona fasciculata 21-hydroxysteroids and precursor-to-product ratios in 21-hydroxylase deficiency: further characterization of classic and non-classic patients and heterozygote carriers. DOC, NC, SV, WT, ZF
59  2009 Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia between 1995 and 2006. CAH, SV
60  2009 Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in croatia between 1995 and 2006. CAH, SV
61  2009 CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children. CAH, IVS-2, NC, SV
62  2009 Hydrocortisone dosing during puberty in patients with classical congenital adrenal hyperplasia: an evidence-based recommendation. CAH, FH, SV
63  2008 CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation. 21OHD, CAH, SV
64  2008 Prenatal diagnosis and treatment of steroid 21-hydroxylase deficiency. 21-OHD, CAH, CVS, NC, SV
65  2008 Salt-wasting congenital adrenal hyperplasia: genotypical peculiarities in a Sicilian ethnic group. CAH
66  2008 Severity of virilization of external genitalia in Japanese patients with salt-wasting 21-hydroxylase deficiency. ---
67  2007 Congenital adrenal hyperplasia: problems with developmental anomalies of the external genitalia and sex assignment. CAH, KHMC
68  2007 Growth and pubertal characteristics in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. FH, NC, SV
69  2007 Reduced final height outcome in congenital adrenal hyperplasia under prednisone treatment: deceleration of growth velocity during puberty. CAH, FH, SDS, SV
70  2007 Three novel CYP21A2 mutations and their protein modelling in patients with classical 21-hydroxylase deficiency from northeastern Iran. CAH, PCR
71  2006 Gender development in women with congenital adrenal hyperplasia as a function of disorder severity. CAH, COs, NC, SV
72  2006 [Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: final height in 27 patients with the classical form]. CAH, FH, SV, TH
73  2005 21-Hydroxylase deficiency: an exemplary model of the contribution of molecular biology in the understanding and management of the disease. 21-OHD, CAH, SV
74  2005 Delayed diagnosis of congenital adrenal hyperplasia with salt wasting due to type II 3beta-hydroxysteroid dehydrogenase deficiency. 3beta-HSD
75  2005 Estimation of the false-negative rate in newborn screening for congenital adrenal hyperplasia. CAH
76  2005 Pregnancy outcomes in women with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. SV
77  2005 Puberty and fertility in congenital adrenal hyperplasia. CAH, NC, SV
78  2005 Serum cortisol and cortisone levels in newborns with congenital adrenal hyperplasia before the start of therapy. CAH, SV
79  2005 [Salt wasting syndrome caused by congenital, insufficient synthesis or aldosterone function--etiology, diagnosis and management]. AHC, CAH
80  2004 Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. CAH
81  2004 [Analysis of the association of HLA-DQ1 alleles with mutation of the 21-hydroxylase gene in patients with congenital adrenal hyperplasia]. CAH, NC
82  2003 Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a cross-sectional study of factors involved in bone mineral density. BMD, BMD/CA, BMI, CAH, SV
83  2003 Final height in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: the Italian experience. FH, LO, SV, TH
84  2003 Twenty years experience in rapid identification of congenital adrenal hyperplasia in Hungary. CAH, SV
85  2002 Adrenomedullary function may predict phenotype and genotype in classic 21-hydroxylase deficiency. CAH, SV
86  2002 Classical and nonclassical 21-hydroxylase deficiency: a molecular study of Argentine patients. NC, SV
87  2002 Early growth, pubertal development, body mass index and final height of patients with congenital adrenal hyperplasia: factors influencing the outcome. BMI, CAH, FH, NC, SV, TH
88  2001 Growth patterns and final height in congenital adrenal hyperplasia due to classical 21-hydroxylase deficiency. Results of a multicenter study. BA, CAH, SV
89  2001 Height, bone mineral density and bone markers in congenital adrenal hyperplasia. aBMD, CAH, MI, NC, SDS, SV, vBMD
90  2001 Lessons from 30 years of clinical diagnosis and treatment of congenital adrenal hyperplasia in five middle European countries. CAH, SV
91  2001 Molecular characterization of mutations in Indian children with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. CAH, SV
92  1998 Congenital adrenal hyperplasia. Molecular characterization. ACRS, CAH, CD, I236N, NC, PCR, SV
93  1996 Psychosexual development of women with congenital adrenal hyperplasia. CAH, SV
94  1995 Divergence between genotype and phenotype in relatives of patients with the intron 2 mutation of steroid-21-hydroxylase. SV
95  1993 Cognitive functioning in female patients with 21-hydroxylase deficiency. CAH, SV
96  1993 Prenatal dexamethasone treatment in pregnancies at risk for congenital adrenal hyperplasia due to 21-hydroxylase deficiency: effect on midgestational amniotic fluid steroid levels. AC, AF, CAH, DEX, SV
97  1992 Body positions and movement patterns in female patients with congenital adrenal hyperplasia. CAH, SV
98  1992 Urinary excretion of 17-hydroxypregnanolones in patients with different forms of congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. 11-O-PT, 15 beta OH-PO, CAH, LO, PT, SV, THE
99  1990 Congenital adrenal hyperplasia. II: Gender-related behavior and attitudes in female salt-wasting and simple-virilizing patients. CAH, SV
100  1990 HLA associations in patients with polycystic ovaries and in patients with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency. CAH, HLA, PCO, SV