Disease: Schinzel Giedion syndrome
- <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<sup>S858R</sup> 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
- 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 > 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