scholarly article | Q13442814 |
P50 | author | Cheng-Zhi Wang | Q95975804 |
P2093 | author name string | Yan Qin | |
Bao-An Wang | |||
Jing-Tao Dou | |||
Yi-Ming Mu | |||
An-Ping Wang | |||
Qing-Hua Guo | |||
Bai-Yu Han | |||
Xiao-Sheng Wu | |||
Zhi-Qiang Wu | |||
P2860 | cites work | 17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome. | Q51809831 |
Molecular analysis of PROP1, PIT1, HESX1, LHX3, and LHX4 shows high frequency of PROP1 mutations in patients with familial forms of combined pituitary hormone deficiency. | Q51968780 | ||
Genetic screening of combined pituitary hormone deficiency: experience in 195 patients. | Q53254800 | ||
Hypopituitarism | Q61846582 | ||
Pituitary stalk dysgenesis-induced hypopituitarism in adult patients: prevalence, evolution of hormone dysfunction and genetic analysis | Q83389707 | ||
Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype | Q84991026 | ||
Physical and functional interactions between Zic and Gli proteins | Q24290895 | ||
Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism | Q24531513 | ||
Transcription factor Zic2 inhibits Wnt/β-catenin protein signaling | Q24634753 | ||
Wnt/β-catenin signaling in midbrain dopaminergic neuron specification and neurogenesis | Q27692055 | ||
Identification of a Wnt/Dvl/beta-Catenin --> Pitx2 pathway mediating cell-type-specific proliferation during development | Q28216579 | ||
WNT signaling affects gene expression in the ventral diencephalon and pituitary gland growth | Q28509925 | ||
The canonical Notch signaling pathway: unfolding the activation mechanism | Q29547725 | ||
Genetic regulation of pituitary gland development in human and mouse | Q33590141 | ||
Genetic characterization of SF3B1 mutations in single chronic lymphocytic leukemia cells | Q33828825 | ||
Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms. | Q34160940 | ||
Zic2-associated holoprosencephaly is caused by a transient defect in the organizer region during gastrulation | Q34794546 | ||
Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome | Q34810924 | ||
Understanding synergy in genetic interactions | Q34996319 | ||
Endocrine disorders in Fanconi anemia: recommendations for screening and treatment | Q35096884 | ||
HESX1- and TCF3-mediated repression of Wnt/β-catenin targets is required for normal development of the anterior forebrain | Q35445338 | ||
Notch signaling in postnatal pituitary expansion: proliferation, progenitors, and cell specification | Q37732555 | ||
Mastermind-like 1 (MamL1) and mastermind-like 3 (MamL3) are essential for Notch signaling in vivo | Q38330440 | ||
Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort. | Q38543146 | ||
Pituitary Stalk Interruption Syndrome: From Clinical Findings to Pathogenesis | Q38787264 | ||
NKD2, a negative regulator of Wnt signaling, suppresses tumor growth and metastasis in osteosarcoma | Q38921006 | ||
Fanconi anemia: correlating central nervous system malformations and genetic complementation groups. | Q39173536 | ||
Pituitary stalk interruption syndrome in 58 Chinese patients: clinical features and genetic analysis | Q43750873 | ||
A Nonsense Mutation in the Hedgehog Receptor CDON Associated With Pituitary Stalk Interruption Syndrome | Q46224633 | ||
Alu-element insertion in the homeodomain of HESX1 and aplasia of the anterior pituitary. | Q46446572 | ||
Ncor2 is required for hematopoietic stem cell emergence by inhibiting Fos signaling in zebrafish. | Q47074066 | ||
Developmental regulation of Notch signaling genes in the embryonic pituitary: Prop1 deficiency affects Notch2 expression | Q48090609 | ||
Pituitary stalk interruption syndrome and isolated pituitary hypoplasia may be caused by mutations in holoprosencephaly-related genes | Q48132138 | ||
A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency | Q48234928 | ||
Hormonal, pituitary magnetic resonance, LHX4 and HESX1 evaluation in patients with hypopituitarism and ectopic posterior pituitary lobe | Q48320173 | ||
Congenital adenohypophysis aplasia: clinical features and analysis of the transcriptional factors for embryonic pituitary development | Q48549891 | ||
PROKR2 variants in multiple hypopituitarism with pituitary stalk interruption. | Q48588361 | ||
Pituitary stalk interruption syndrome: a clinical-biological-genetic assessment of its pathogenesis | Q48607890 | ||
Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia | Q49120156 | ||
P433 | issue | 12 | |
P304 | page(s) | 3626-3632 | |
P577 | publication date | 2017-07-14 | |
P1433 | published in | Journal of Cellular and Molecular Medicine | Q1524063 |
P1476 | title | Multi-genic pattern found in rare type of hypopituitarism: a whole-exome sequencing study of Han Chinese with pituitary stalk interruption syndrome | |
P478 | volume | 21 |
Q92039578 | Congenital pituitary hypoplasia model demonstrates hypothalamic OTX2 regulation of pituitary progenitor cells |
Q99631802 | Identification of novel candidate pathogenic genes in pituitary stalk interruption syndrome by whole-exome sequencing |
Q98177844 | NBPF9 Gene May Be Involved in Congenital Hypopituitarism: A Whole-Genome Study of a Boy with Pituitary Stalk Interruption Syndrome and His Family |
Q64106762 | Osteogenesis Imperfecta Due to Combined Heterozygous Mutations in Both and , Coexisting With Pituitary Stalk Interruption Syndrome |
Q96953533 | SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD) |
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