Found: 242
Select item for more details and to access through your institution.
Long-term Effect of Aromatase Inhibition in Aromatase Excess Syndrome.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance.
- Published in:
- Clinical Epigenetics, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13148-024-01744-5
- By:
- Publication type:
- Article
Intrauterine Hyponutrition Reduces Fetal Testosterone Production and Postnatal Sperm Count in the Mouse.
- Published in:
- Journal of the Endocrine Society, 2022, v. 6, n. 4, p. 1, doi. 10.1210/jendso/bvac022
- By:
- Publication type:
- Article
SOX10 Mutation Screening for 117 Patients with Kallmann Syndrome.
- Published in:
- Journal of the Endocrine Society, 2021, v. 5, n. 7, p. 1, doi. 10.1210/jendso/bvab056
- By:
- Publication type:
- Article
De novo variants in <italic>SETD1B</italic> are associated with intellectual disability, epilepsy and autism.
- Published in:
- Human Genetics, 2018, v. 137, n. 1, p. 95, doi. 10.1007/s00439-017-1863-y
- By:
- Publication type:
- Article
Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.
- Published in:
- Human Genetics, 2016, v. 135, n. 2, p. 209, doi. 10.1007/s00439-015-1627-5
- By:
- Publication type:
- Article
A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency.
- Published in:
- Human Genetics, 2010, v. 127, n. 6, p. 721, doi. 10.1007/s00439-010-0820-9
- By:
- Publication type:
- Article
Clinical and molecular studies in 15 females with ring X chromosomes: implications for r(X) formation and mental development.
- Published in:
- Human Genetics, 2000, v. 107, n. 5, p. 433, doi. 10.1007/s004390000377
- By:
- Publication type:
- Article
Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features.
- Published in:
- Human Genetics, 2000, v. 106, n. 3, p. 306, doi. 10.1007/s004390051042
- By:
- Publication type:
- Article
Expression of Xenobiotic Biomarkers CYP1 Family in Preputial Tissue of Patients with Hypospadias and Phimosis and Its Association with DNA Methylation Level of SRD5A2 Minimal Promoter.
- Published in:
- Archives of Environmental Contamination & Toxicology, 2018, v. 74, n. 2, p. 240, doi. 10.1007/s00244-017-0466-x
- By:
- Publication type:
- Article
Case Report: Molecular autopsy underlie COVID-19-associated sudden, unexplained child mortality.
- Published in:
- Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1121059
- By:
- Publication type:
- Article
Severe Alport syndrome in a young woman caused by a t(X;1)(q22.3;p36.32) balanced translocation.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
Familial cases of atypical clinical features genetically diagnosed as LEOPARD syndrome (multiple lentigines syndrome).
- Published in:
- International Journal of Dermatology, 2010, v. 49, n. 10, p. 1146, doi. 10.1111/j.1365-4632.2010.04559.x
- By:
- Publication type:
- Article
Human Chorionic Gonadotropin Stimulation Test in Prepubertal Children with Micropenis Can Accurately Predict Leydig Cell Function in Pubertal or Postpubertal Adolescents.
- Published in:
- Hormone Research in Paediatrics, 2015, v. 84, n. 5, p. 305, doi. 10.1159/000439234
- By:
- Publication type:
- Article
Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris Hypopigmentation.
- Published in:
- Hormone Research in Paediatrics, 2015, v. 84, n. 3, p. 212, doi. 10.1159/000436965
- By:
- Publication type:
- Article
De novo Frameshift Mutation in Fibroblast Growth Factor 8 in a Male Patient with Gonadotropin Deficiency.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 81, n. 2, p. 139, doi. 10.1159/000355380
- By:
- Publication type:
- Article
Hypothalamic Dysfunction in a Female with Isolated Hypogonadotropic Hypogonadism and Compound Heterozygous TACR3 Mutations and Clinical Manifestation in Her Heterozygous Mother.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
Pathogenic sequence variant and microdeletion affecting HMGA2 in Silver–Russell syndrome: case reports and literature review.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Human Spermatogenesis Tolerates Massive Size Reduction of the Pseudoautosomal Region.
- Published in:
- Genome Biology & Evolution, 2020, v. 12, n. 11, p. 1961, doi. 10.1093/gbe/evaa168
- By:
- Publication type:
- Article
Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Development of waist circumference percentiles for Japanese children and an examination of their screening utility for childhood metabolic syndrome: a population-based cross-sectional study.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Rationale and study design of the Japan environment and children's study (JECS).
- Published in:
- BMC Public Health, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1471-2458-14-25
- By:
- Publication type:
- Article
Rationale and study design of the Japan environment and children's study (JECS).
- Published in:
- 2014
- By:
- Publication type:
- journal article
Molecular and clinical findings and their correlations in Silver-Russell syndrome: implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2–H19 domain in bodies and placentas.
- Published in:
- Journal of Molecular Medicine, 2008, v. 86, n. 10, p. 1171, doi. 10.1007/s00109-008-0377-4
- By:
- Publication type:
- Article
Random X chromosome inactivation in patients with Klinefelter syndrome.
- Published in:
- Molecular & Cellular Pediatrics, 2020, v. 7, n. 1, p. 1, doi. 10.1186/s40348-020-0093-x
- By:
- Publication type:
- Article
Cytochrome P450 oxidoreductase deficiency: Rare congenital disorder leading to skeletal malformations and steroidogenic defects.
- Published in:
- Pediatrics International, 2014, v. 56, n. 6, p. 805, doi. 10.1111/ped.12518
- By:
- Publication type:
- Article
Cognitive outcome of very-low-birthweight infants at 6 years of age.
- Published in:
- Pediatrics International, 2013, v. 55, n. 5, p. 594, doi. 10.1111/ped.12156
- By:
- Publication type:
- Article
Sex determining gene on the X chromosome short arm: Dosage sensitive sex reversal.
- Published in:
- Pediatrics International, 1996, v. 38, n. 4, p. 390, doi. 10.1111/j.1442-200X.1996.tb03513.x
- By:
- Publication type:
- Article
Effect of Cornstarch Formula in an Infant with Type I Glycogen Storage Disease.
- Published in:
- Pediatrics International, 1988, v. 30, n. 5, p. 547, doi. 10.1111/j.1442-200X.1988.tb01578.x
- By:
- Publication type:
- Article
Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Genome-wide methylation analysis in Silver–Russell syndrome, Temple syndrome, and Prader–Willi syndrome.
- Published in:
- Clinical Epigenetics, 2020, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13148-020-00949-8
- By:
- Publication type:
- Article
Assisted reproductive technology represents a possible risk factor for development of epimutation-mediated imprinting disorders for mothers aged ≥ 30 years.
- Published in:
- Clinical Epigenetics, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13148-020-00900-x
- By:
- Publication type:
- Article
Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients.
- Published in:
- Clinical Epigenetics, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13148-020-00865-x
- By:
- Publication type:
- Article
Temple syndrome in a patient with variably methylated CpGs at the primary MEG3/DLK1:IG-DMR and severely hypomethylated CpGs at the secondary MEG3:TSS-DMR.
- Published in:
- Clinical Epigenetics, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13148-019-0640-2
- By:
- Publication type:
- Article
Exploring the unique function of imprinting control centers in the PWS/AS-responsible region: finding from array-based methylation analysis in cases with variously sized microdeletions.
- Published in:
- Clinical Epigenetics, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13148-019-0633-1
- By:
- Publication type:
- Article
Association of four imprinting disorders and ART.
- Published in:
- Clinical Epigenetics, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13148-019-0623-3
- By:
- Publication type:
- Article
Female external genitalia, absent uterus, and probable agonadism in a 46,XY infant with bilateral upper amelia.
- Published in:
- Clinical Genetics, 1998, v. 54, n. 1, p. 52, doi. 10.1111/j.1399-0004.1998.tb03693.x
- By:
- Publication type:
- Article
Identification of monogenic gene mutations in Japanese subjects diagnosed with type 1B diabetes between > 5 and 15.1 years of age.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 9, p. 1047, doi. 10.1515/jpem-2016-0030
- By:
- Publication type:
- Article
Paradoxical gain-of-function mutant of the G-protein-coupled receptor PROKR2 promotes early puberty.
- Published in:
- Journal of Cellular & Molecular Medicine, 2017, v. 21, n. 10, p. 2623, doi. 10.1111/jcmm.13146
- By:
- Publication type:
- Article
Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature.
- Published in:
- Endocrine Journal, 2024, v. 71, n. 1, p. 75, doi. 10.1507/endocrj.EJ23-0502
- By:
- Publication type:
- Article
Human glutathione S-transferase A (GSTA) family genes are regulated by steroidogenic factor 1 (SF-1) and are involved in steroidogenesis.
- Published in:
- FASEB Journal, 2013, v. 27, n. 8, p. 3198, doi. 10.1096/fj.12-222745
- By:
- Publication type:
- Article
STX2 is a causative gene for nonobstructive azoospermia.
- Published in:
- Human Mutation, 2018, v. 39, n. 6, p. 830, doi. 10.1002/humu.23423
- By:
- Publication type:
- Article
Case Report: Novel compound heterozygous TPRKB variants cause Galloway-Mowat syndrome.
- Published in:
- Frontiers in Pediatrics, 2024, p. 01, doi. 10.3389/fped.2024.1360867
- By:
- Publication type:
- Article
GATA4 variant identified by whole‐exome sequencing in a Japanese family with atrial septal defect: Implications for male sex development.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Mosaic upd(14)pat in a patient with mild features of Kagami–Ogata syndrome.
- Published in:
- Clinical Case Reports, 2018, v. 6, n. 1, p. 91, doi. 10.1002/ccr3.1300
- By:
- Publication type:
- Article
The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia.
- Published in:
- Pediatric Nephrology, 2004, v. 19, n. 7, p. 728, doi. 10.1007/s00467-004-1424-1
- By:
- Publication type:
- Article
Impaired urinary water excretion in a three-generation family.
- Published in:
- Pediatric Nephrology, 2001, v. 16, n. 10, p. 820, doi. 10.1007/s004670100663
- By:
- Publication type:
- Article
The p.R92W variant of NR5A1/Nr5a1 induces testicular development of 46,XX gonads in humans, but not in mice: phenotypic comparison of human patients and mutation-induced mice.
- Published in:
- Biology of Sex Differences, 2016, v. 7, p. 1, doi. 10.1186/s13293-016-0114-6
- By:
- Publication type:
- Article
Nucleotide substitutions in CD101, the human homolog of a diabetes susceptibility gene in non-obese diabetic mouse, in patients with type 1 diabetes.
- Published in:
- Journal of Diabetes Investigation, 2017, v. 8, n. 3, p. 286, doi. 10.1111/jdi.12586
- By:
- Publication type:
- Article
Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency.
- Published in:
- EMBO Molecular Medicine, 2016, v. 8, n. 12, p. 1455, doi. 10.15252/emmm.201606623
- By:
- Publication type:
- Article