相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Xq27.1 Duplication EncompassingSOX3: Variable Phenotype and Smallest Duplication Associated with Hypopituitarism to Date - A Large Case Series of Unrelated Patients and a Literature Review
Ved Bhushan Arya et al.
HORMONE RESEARCH IN PAEDIATRICS (2020)
Neural Tube Defects and Associated Anomalies before and after Folic Acid Fortification
Jane H. Dean et al.
JOURNAL OF PEDIATRICS (2020)
SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects
Marguerite Hureaux et al.
PRENATAL DIAGNOSIS (2019)
Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects
Catherine J. Spellicy et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2018)
Duplication of SOX3 (Xq27) may be a Risk Factor For Neural Tube Defects
Arnaud Uguen et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)
Evidence for Increased SOX3 Dosage as a Risk Factor for X-Linked Hypopituitarism and Neural Tube Defects
Marijke Bauters et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism
MR Bowl et al.
JOURNAL OF CLINICAL INVESTIGATION (2005)
Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism
KS Woods et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency
F Laumonnier et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes
FA Hol et al.
GENOMICS (2000)
分享论文
