• <em>SETBP1</em> dysregulation in congenital disorders and myeloid neoplasms
• 372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment
• A case of Schinzel-Giedion syndrome complicated with progressive severe gingival hyperplasia and progressive brain atrophy
• A Croatian case of the Schinzel-Giedion syndrome
• A further case of a new syndrome including midface retraction, hypertrichosis, and skeletal anomalies
• A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease
• A Novel <em>SETBP1</em> Gene Disruption by a De Novo Balanced Translocation in a Patient with Speech Impairment, Intellectual, and Behavioral Disorder
• A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome
• A patient with Schinzel-Giedion syndrome and a review of 20 patients
• A Schinzel-Giedion-like syndrome--a milder version or a separate condition?
• A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs
• Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations
• Agenesis of the corpus callosum in Schinzel-Giedion syndrome associated with 47,XXY karyotype
• Balanced SET levels favor the correct enhancer repertoire during cell fate acquisition
• Bilateral hydronephrosis due to megacalicosis as a prenatal sonographic finding in a female with Schinzel-Giedion syndrome
• Cell-type-specific gene expression and regulation in the cerebral cortex and kidney of atypical Setbp1(S858R) Schinzel Giedion Syndrome mice
• Cell-type-specific gene expression and regulation in the cerebral cortex and kidney of atypical Setbp1^S858R Schinzel Giedion Syndrome mice
• Cerebroarthrodigital syndrome: a newly recognized formal genesis syndrome in three patients with apparent arthromyodysplasia and sacral agenesis, brain malformation and digital hypoplasia
• Clinical and radiological findings in Schinzel-Giedion syndrome
• Cobblestone lissencephaly in Schinzel-Giedion syndrome
• Congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation: the Schinzel-Giedion syndrome
• Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysis
• De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
• Delayed Bone Age in a Child with a Novel Loss-of-Function Variant in <em>SETBP1</em> Gene Sheds Light on the Potential Role of SETBP1 Protein in Skeletal Development
• Detection of a novel <em>SETBP1</em> variant in a Chinese neonate with Schinzel-Giedion syndrome
• Detection of a novel SETBP1 variant in a Chinese neonate with Schinzel-Giedion syndrome
• Distinct neurological features in a patient with Schinzel-Giedion syndrome caused by a recurrent SETBP1 mutation
• Extradural ependymal tumor with myxopapillary and ependymoblastic differentiation in a case of Schinzel-Giedion syndrome
• Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islands
• Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases
• Genetic and prenatal findings in two Japanese patients with Schinzel-Giedion syndrome
• Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis
• Identification of <em>SETBP1</em> Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With "Developmental and Epileptic Encephalopathy"
• Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations
• Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications
• Malignant retroperitoneal tumor arising in a multicystic dysplastic kidney of a girl with Schinzel-Giedion syndrome
• Microdeletion syndromes, balanced translocations, and gene mapping
• Neurosonography and pathology in the Schinzel-Giedion syndrome
• New finding of Schinzel-Giedion syndrome: a case with a malignant sacrococcygeal teratoma
• Newly discovered structural chromosome aberrations in long familial syndromes, associations and sequences. Prader-Willi syndrome, Miller-Dieker syndrome, Giedion-Langer syndrome, Aniridia-Wilms' tumor association, DiGeorge sequence, Wiedemann-Beckwit
• Novel SETBP1 D874V adjacent to the degron causes canonical schinzel-giedion syndrome: a case report and review of the literature
• Okamoto syndrome in a girl of Caucasian origin
• Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies
• Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of 18q12.3 encompassing SETBP1
• Prenatal diagnosis of Schwartz-Jampel syndrome with early manifestation
• Prenatally detected ureteropelvic junction obstruction: clinical features and associated urologic abnormalities
• Progressive brain atrophy in Schinzel-Giedion syndrome with a SETBP1 mutation
• Putative Roles of SETBP1 Dosage on the SET Oncogene to Affect Brain Development
• Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk
• Recurrent SETBP1 mutations in atypical chronic myeloid leukemia
• Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome
• Refractory sacrococcygeal germ cell tumor in Schinzel-Giedion syndrome
• Sacral tumors in Schinzel-Giedion syndrome
• Schinzel-Giedion Syndrome
• Schinzel-Giedion syndrome
• Schinzel-Giedion syndrome
• Schinzel-Giedion syndrome
• Schinzel-Giedion syndrome
• Schinzel-Giedion syndrome
• Schinzel-Giedion syndrome and alacrima: a case first described in 1996
• Schinzel-Giedion syndrome and congenital megacalyces
• Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features
• Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features
• Schinzel-Giedion syndrome with sacrococcygeal teratoma
• Schinzel-Giedion syndrome with severe deafness and neurodegenerative process
• Schinzel-Giedion syndrome: a case with sacrococcygeal teratoma and cor-triatriatum dexter
• Schinzel-Giedion syndrome: a further cause of early myoclonic encephalopathy and vacuolating myelinopathy
• Schinzel-Giedion syndrome: a further cause of West syndrome
• Schinzel-Giedion syndrome: a new mutation in SETBP1
• Schinzel-Giedion syndrome: a novel case, review and revised diagnostic criteria
• Schinzel-Giedion syndrome: autopsy report and additional clinical manifestations
• Schinzel-Giedion syndrome: evidence for a neurodegenerative process
• Schinzel-Giedion syndrome: further delineation of the phenotype
• Schinzel-Giedion syndrome: interesting facial and orodental features, and dental management
• Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria
• Schinzel-Giedion syndrome: report of two sibs
• Schinzel-Giedion syndrome. A patient with hypothyroidism and diabetes insipidus
• Scoliosis in a case of Schinzel-Giedion syndrome
• SET(BP1)-ing the stage for a better understanding of Schinzel-Giedion syndrome
• SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome
• SETBP1 induces transcription of a network of development genes by acting as an epigenetic hub
• SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome
• Somatic SETBP1 mutations in myeloid malignancies
• Somatic SETBP1 mutations in myeloid neoplasms
• The impact of SETBP1 mutations in neurological diseases and cancer
• The landscape of <em>SETBP1</em> gene expression and transcription factor activity across human tissues
• The landscape of SETBP1 gene expression and transcription factor activity across human tissues
• The recurrent SETBP1 c.2608G &gt; A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate
• The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate
• The Schinzel-Giedion syndrome
• The Schinzel-Giedion syndrome. A case report and review of the literature
• Three new cases of the Schinzel-Giedion syndrome and review of the literature
• Unknown syndrome: ischiadic hypoplasia, renal dysfunction, immunodeficiency, and a pattern of minor congenital anomalies
• Unusual facies with delayed development and multiple malformations in a 14-month-old boy
• Unusual neuroradiological features in Schinzel-Giedion syndrome: a novel case
• West syndrome in a patient with Schinzel-Giedion syndrome
• Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective
• World-Renowned "Swiss" Pediatricians, Their Syndromes, and Matching Imaging Findings: A Historical Perspective