Disease: Chromosome 4 short arm deletion
- 109 kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome
- 4p16.1-p15.31 duplication and 4p terminal deletion in a 3-years old Chinese girl: Array-CGH, genotype-phenotype and neurological characterization
- 4q35 deletion and 10p15 duplication associated with immunodeficiency
- A case of mosaic ring chromosome 4 with subtelomeric 4p deletion
- A case of Wolf-Hirschhorn syndrome and hypoplastic left heart syndrome
- A case of Wolf-Hirschhorn syndrome progressing to resistant epilepsy
- A Case Report of a Feto-Placental Mosaicism Involving a Segmental Aneuploidy: A Challenge for Genome Wide Screening by Non-Invasive Prenatal Testing of Cell-Free DNA in Maternal Plasma
- A family with partial duplication/deletion 4p due to a balanced t (4; 15) (p16.2; p11.2) translocation
- A practical approach to dental care for patients with Wolf-Hirschhorn syndrome
- A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosis
- A rare subtelomeric deletion syndrome: Wolf Hirschhorn syndrome
- A short history of the initial discovery of the Wolf-Hirschhorn syndrome
- Affinity for music in Wolf-Hirschhorn syndrome: two case reports
- An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster
- An unusual ophthalmic presentation of Wolf-Hirschhorn syndrome
- Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic Hybridization
- Benign and pathogenic copy number variation on the short arm of chromosome 4
- Brain magnetic resonance imaging in Wolf-Hirschhorn syndrome
- Case report: cytogenetic and molecular analysis of proximal interstitial deletion of 4p, review of the literature and comparison with wolf-hirschhorn syndrome
- Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome
- Clinical features in adult patient with Wolf-Hirschhorn syndrome
- Clinical utility gene card for: Wolf-Hirschhorn (4p-) syndrome
- Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations
- Congenital cavitary optic disc anomaly and Axenfeld's anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature
- Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn Syndrome
- Diabetes Mellitus Secondary to Acute Pancreatitis in a Child with Wolf-Hirschhorn Syndrome
- Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalances
- Disorders of sex development in Wolf-Hirschhorn syndrome: a genotype-phenotype correlation and MSX1 as candidate gene
- Distal 4p microdeletion in a case of Wolf-Hirschhorn syndrome with congenital diaphragmatic hernia
- Efficacy of Antiseizure Medications in Wolf-Hirschhorn Syndrome
- Exploring the developmental mechanisms underlying Wolf-Hirschhorn Syndrome: Evidence for defects in neural crest cell migration
- Extremely low birthweight infant with wolf-hirschhorn syndrome: a dilemma in determination of the optimal timing of delivery
- Familial interstitial deletion of the short arm of chromosome 4 (p15.33-p16.3) characterized by molecular cytogenetic analysis
- Features of the Wolf-Hirschhorn Syndrome (WHS) from Infant to Young Teenager
- Fine mapping of the pleiotropic locus B for black spine and orange mature fruit color in cucumber identifies a 50 kb region containing a R2R3-MYB transcription factor
- Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome
- Genetically unresolved case of Rauch-Steindl syndrome diagnosed by its wolf-hirschhorn associated DNA methylation episignature
- Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)
- Genotype/phenotype analysis in a male patient with partial trisomy 4p and monosomy 20q due to maternal reciprocal translocation (4;20): A case report
- Growth charts for Wolf-Hirschhorn syndrome (0-4 years of age)
- Growth profiles of 34 patients with Wolf-Hirschhorn syndrome
- Hip displacement in Wolf-Hirschhorn syndrome: Report on three cases and review of associated musculoskeletal pathologies
- Identification of an 85-kb Heterozygous 4p Microdeletion With Full Genome Analysis in Autosomal Dominant Charcot-Marie-Tooth Disease
- Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome
- Inherited unbalanced translocation (4p16.3p15.32 duplication/8p23.3p23.2deletion) in the four generation pedigree with intellectual disability/developmental delay
- Interstitial deletions of the short arm of chromosome 4 in a patient with mental retardation and focal seizure
- Introgression browser: high-throughput whole-genome SNP visualization
- Isolation of a novel mutant gene for soil-surface rooting in rice (Oryza sativa L.)
- LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability
- Mandibular distraction in the setting of chromosome 4q deletion
- Maternal complex chromosome rearrangements involving five chromosomes 1, 4, 10, 12 and 20 ascertained through a del(4)(p14p15) detected in a mother's first affected daughter
- Microarray analysis of unbalanced translocation in Wolf-Hirschhorn syndrome
- Molecular cytogenetic analysis of chromosomal aberrations in cells of low grade gliomas and its contribution for tumour classification
- Molecular cytogenetic characterization of a 4p15.1-pter duplication and a 4q35.1-qter deletion in a recombinant of chromosome 4 pericentric inversion
- Molecular cytogenetic characterization of partial trisomy of the long arm of chromosome 11 in a patient with multiple congenital anomalies
- Monosomy 18p is a risk factor for facioscapulohumeral dystrophy
- Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion
- Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice
- Multiple hemangiomas in a patient with a t(3q;4p) translocation: an infrequent association with Wolf-Hirschhorn syndrome
- Natural histories of patients with Wolf-Hirschhorn syndrome derived from variable chromosomal abnormalities
- Natural history study of adults with Wolf-Hirschhorn syndrome 1: Case series of personally observed 35 individuals
- Natural history study of adults with Wolf-Hirschhorn syndrome 2: Patient-reported outcomes study
- Neuroblastoma in a Child With Wolf-Hirschhorn Syndrome
- Nonossified cervical vertebrae in Wolf-Hirschhorn Syndrome: A case report
- Ocular manifestations in Wolf-Hirschhorn syndrome
- Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis
- PARTIAL TRISOMY 4p AND PARTIAL MONOSOMY 13q: CASE REPORT AND A LITERATURE REVIEW
- Partial trisomy 4q and monosomy 5p inherited from a maternal translocationt(4;5)(q33; p15) in three adverse pregnancies
- Pediatric diagnosis not made until adulthood: a case of Wolf-Hirschhorn syndrome
- Periventricular heterotopia in a boy with interstitial deletion of chromosome 4p
- Phenotypic variations in wolf-hirschhorn syndrome
- Physical and developmental phenotype analyses in a boy with Wolf-Hirschhorn syndrome
- Polycystic kidneys and del (4)(q21.1q21.3): further delineation of a distinct phenotype
- Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype
- Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital diaphragmatic hernia, cystic hygroma and IUGR
- Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature
- Prenatal forehead edema in 4p- deletion: the 'Greek warrior helmet' profile revisited
- Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm
- Screening of subtelomeric rearrangements in 100 Korean Pediatric patients with unexplained mental retardation and anomalies using subtelomeric FISH (fluorescence in situ hybridization)
- Seizure and EEG patterns in Wolf-Hirschhorn (4p-) syndrome
- Severe congenital bilateral corneal ulceration due to Wolf-Hirschhorn syndrome: a case-report and review of the ophthalmic literature
- Submicroscopic duplication of the Wolf-Hirschhorn critical region with a 4p terminal deletion
- Subtelomeric Copy Number Variations: The Importance of 4p/4q Deletions in Patients with Congenital Anomalies and Developmental Disability
- Subtelomeric screening in Serbian children with dysmorphic features and unexplained developmental delay/intellectual disabilities
- The etiology of Wolf-Hirschhorn syndrome
- The Wolf-Hirschhorn Syndrome
- Three patients with Wolf-Hirschhorn syndrome carrying a satellited chromosome 4p
- Trisomy 12p and monosomy 4p: phenotype-genotype correlation
- Unexpected identification of two interstitial deletions in a patient with a pericentric inversion of a chromosome 4 and an abnormal phenotype
- Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome
- Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervision
- Wolf-Hirschhorn (4p-) syndrome: prenatal diagnosis, molecular cytogenetic characterization and association with a 1.2-Mb microduplication at 8p22-p21.3 and a 1.1-Mb microduplication at 10p15.3 in a fetus with an apparently pure 4p deletion
- Wolf-Hirschhorn syndrome
- Wolf-Hirschhorn syndrome candidate 1 is involved in the cellular response to DNA damage
- Wolf-Hirschhorn syndrome with improvement of renal function
- Wolf-Hirschhorn syndrome: a case study and disease overview
- Wolf-Hirschhorn syndrome: a case with normal karyotype, demonstrated by array CGH (aCGH)
- Wolf-Hirschhorn syndrome. A series of 27 patients: their epidemiological and clinical characteristics. The current situation of the patients and the opinions of their caregivers regarding the diagnostic process
- Wolf-Hirschhorn syndrome. Description of a Spanish cohort of 51 cases and a literature review
- Wolf-Hirschhorn syndrome. Description of five cases characterized by means of single nucleotide polymorphism microarrays