Related references
Note: Only part of the references are listed.Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants
Tulay Guran et al.
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY (2020)
Long-term follow-up of a female patient with non-classical 11β-hydroxylase deficiency and two novel mutations in CYP11B1
Sabina Zacharieva et al.
GYNECOLOGICAL ENDOCRINOLOGY (2019)
Typical characteristics of children with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency: a single-centre experience and review of the literature
Thomas Breil et al.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM (2019)
Congenital Adrenal Hyperplasia: Time to Replace 17OHP with 21-Deoxycortisol
Walter L. Miller
HORMONE RESEARCH IN PAEDIATRICS (2019)
Response to Letter to the Editor: Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline
Phyllis W. Speiser et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2019)
Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene
Firdevs Bas et al.
JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY (2018)
Non-classical 11 β-hydroxylase deficiency caused by compound heterozygous mutations: a case study and literature review
Dongdong Wang et al.
JOURNAL OF OVARIAN RESEARCH (2018)
Clinical, biochemical and genetic features with nonclassical 21-hydroxylase deficiency and final height
Senay Savas-Erdeve et al.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM (2017)
Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiency
Nurgun Kandemir et al.
JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY (2017)
Congenital adrenal hyperplasia
Diala El-Maouche et al.
LANCET (2017)
Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
Ahmed Khattab et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)
Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
Krupali Bulsari et al.
ENDOCRINE (2017)
Adrenal-derived 11-oxygenated 19-carbon steroids are the dominant androgens in classic 21-hydroxylase deficiency
Adina F. Turcu et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2016)
Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene
Huy-Hoang Nguyen et al.
JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY (2016)
PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels
Yongwook Choi et al.
BIOINFORMATICS (2015)
Characterization of the molecular genetic pathology in patients with 11-hydroxylase deficiency
Christiaan F. Mooij et al.
CLINICAL ENDOCRINOLOGY (2015)
Reference Values for Weight, Height, Head Circumference, and Body Mass Index in Turkish Children
Olcay Neyzi et al.
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY (2015)
Characterisation of three novel CYP11B1 mutations in classic and non-classic 11β-hydroxylase deficiency
Seher Polat et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2014)
MutationTaster2: mutation prediction for the deep-sequencing age
Jana Marie Schwarz et al.
NATURE METHODS (2014)
Z-Score Reference Values for Height in Turkish Children Aged 6 to 18 Years
Hulya Gunoz et al.
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY (2014)
Thyrotoxic Periodic Paralysis with Graves' Disease Leading to the Discovery of a Hidden Nonclassic 11 beta Hydroxylase Deficiency
Jin Hwa Kim et al.
INTERNAL MEDICINE (2013)
A Diagnosis Not to Be Missed: Nonclassic Steroid 11β-Hydroxylase Deficiency Presenting With Premature Adrenarche and Hirsutism
Nicole Reisch et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2013)
A prevalent and three novel mutations in CYP11B1 gene identified in Chinese patients with 11-beta hydroxylase deficiency
Manna Zhang et al.
JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY (2013)
An integrated map of genetic variation from 1,092 human genomes
David M. Altshuler et al.
NATURE (2012)
SIFT web server: predicting effects of amino acid substitutions on proteins
Ngak-Leng Sim et al.
NUCLEIC ACIDS RESEARCH (2012)
Functional Consequences of Seven Novel Mutations in the CYP11B1 Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency
Silvia Parajes et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)
Gas chromatography/mass spectrometry (GC/MS) remains a pre-eminent discovery tool in clinical steroid investigations even in the era of fast liquid chromatography tandem mass spectrometry (LC/MS/MS)
Nils Krone et al.
JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY (2010)
Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia resulting from 11-hydroxylase deficiency
Nils Krone et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2006)
Serum 21-deoxycortisol, 17-hydroxyprogesterone, and 11-deoxycortisol in classic congenital adrenal hyperplasia:: Clinical and hormonal correlations and identification of patients with 11β-hydroxylase deficiency among a large group with alleged 21-hydroxylase deficiency
Vania Tonetto-Fernandes et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2006)
Congenital adrenal hyperplasia due to 11-hydroxylase deficiency:: Functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 gene
N Krone et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2005)
Genotype-phenotype associations in non-classical steroid 21-hydroxylase deficiency
N Weintrob et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2000)
Share Paper
