Published in Am J Med Genet A on May 15, 2004
Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A. Mol Syndromol (2010) 0.93
Partial monosomy 7q34-qter and 21pter-q22.13 due to cryptic unbalanced translocation t(7;21) but not monosomy of the whole chromosome 21: a case report plus review of the literature. Mol Cytogenet (2008) 0.82
Modeling partial monosomy for human chromosome 21q11.2-q21.1 reveals haploinsufficient genes influencing behavior and fat deposition. PLoS One (2012) 0.80
Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region. PLoS Genet (2015) 0.79
Full monosomy 21: echocardiographic findings in the third molecularly confirmed case. Pediatr Cardiol (2012) 0.79
Broadening our understanding by the use of molecular cytogenetic techniques: full monosomy 21. J Assist Reprod Genet (2011) 0.75
Diagnosis of chromosomal abnormalities in a patient with thanatophoric dysplasia (TD) type I: The first report describing an important association between cytogenetic findings and TD. Am J Case Rep (2012) 0.75
Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novo del(21)(q22) characterised by molecular karyotyping: Case report. Mol Cytogenet (2010) 0.75
Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development. Mol Cytogenet (2016) 0.75
Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. Am J Hum Genet (2003) 2.24
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. Am J Med Genet A (2006) 1.94
Adrenalectomy for solid tumor metastases: results of a multicenter European study. Surgery (2013) 1.71
Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment. Genome Res (2014) 1.64
Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta. Hum Mutat (2011) 1.42
NOTCH2 mutations in Alagille syndrome. J Med Genet (2011) 1.40
Mutations in WNT1 cause different forms of bone fragility. Am J Hum Genet (2013) 1.39
Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma. Proc Natl Acad Sci U S A (2009) 1.27
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest (2014) 1.24
Cardiovascular support for low birth weight infants and cerebral hemodynamics: a randomized, blinded, clinical trial. Pediatrics (2005) 1.22
Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. Hum Mutat (2009) 1.19
Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence. Hum Mutat (2008) 1.19
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. Am J Med Genet A (2007) 1.18
Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain. PLoS Genet (2013) 1.16
Reduced hepatic expression of farnesoid X receptor in hereditary cholestasis associated to mutation in ATP8B1. Hum Mol Genet (2004) 1.13
Cancer genes hypermethylated in human embryonic stem cells. PLoS One (2008) 1.12
Macrocephaly-cutis marmorata telangiectatica congenita: report of six new patients and a review. Am J Med Genet A (2004) 1.12
Video-assisted surgery in gastric cancer. Clin Transl Oncol (2006) 1.10
Methylation screening of reciprocal genome-wide UPDs identifies novel human-specific imprinted genes. Hum Mol Genet (2011) 1.09
Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes. Hum Mutat (2013) 1.09
Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria. Am J Med Genet A (2010) 1.08
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. Hum Mutat (2010) 1.08
A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review. BMC Med Genet (2009) 1.07
Familial occurrence of the IMAGe association: additional clinical variants and a proposed mode of inheritance. J Clin Endocrinol Metab (2005) 1.06
CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms. Am J Med Genet A (2010) 1.06
Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum. Hum Mutat (2012) 1.05
Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option. Epilepsia (2013) 1.04
Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease. Am J Med Genet A (2006) 1.00
The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia. Hum Mol Genet (2012) 1.00
PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands. Hum Mutat (2006) 1.00
Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype. Am J Hum Genet (2011) 0.96
Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques. Eur J Hum Genet (2011) 0.95
Stratification of Wilms tumor by genetic and epigenetic analysis. Oncotarget (2012) 0.95
Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome. Hum Genet (2006) 0.94
Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations. Am J Med Genet A (2013) 0.92
Simpson-Golabi-Behmel syndrome types I and II. Orphanet J Rare Dis (2014) 0.90
Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism. J Med Genet (2010) 0.89
Multiple giant pilomatricoma in familial Sotos syndrome. Pediatr Dermatol (2008) 0.89
Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion. Am J Med Genet A (2008) 0.89
Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus. J Clin Endocrinol Metab (2012) 0.89
Adults with Sotos syndrome: review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person. Am J Med Genet A (2011) 0.87
A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2. J Biol Chem (2012) 0.87
A novel insertion in the FGFR2 gene in a patient with Crouzon phenotype and sacrococcygeal tail. Birth Defects Res A Clin Mol Teratol (2005) 0.86
A parallel study of different array-CGH platforms in a set of Spanish patients with developmental delay and intellectual disability. Gene (2013) 0.85
Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta. Am J Med Genet A (2014) 0.84
Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples. Am J Med Genet A (2013) 0.84
Acute hand compartment syndromes after closed crush: a reappraisal. Plast Reconstr Surg (2002) 0.84
Follow-up and risk of tumors in overgrowth syndromes. J Pediatr Endocrinol Metab (2005) 0.84
Beckwith-Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a "de novo" pericentric inversion of chromosome Y. Eur J Med Genet (2005) 0.84
Laurin-Sandrow syndrome: review and redefinition. Am J Med Genet A (2008) 0.83
Segmental uniparental disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases. Mol Genet Metab (2011) 0.83
Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization. Am J Med Genet A (2015) 0.82
Molecular diagnosis of Beckwith-Wiedemann syndrome using quantitative methylation-sensitive polymerase chain reaction. Genet Med (2006) 0.82
The G397A (E133K) change in the AGGF1 (VG5Q) gene is a single nucleotide polymorphism in the Spanish population. Am J Med Genet A (2006) 0.82
Sotos syndrome is associated with leukemia/lymphoma. Am J Med Genet A (2007) 0.82
Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes. Am J Med Genet A (2012) 0.82
Direct tandem duplication in chromosome 19q characterized by array CGH. Eur J Med Genet (2008) 0.81
Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects. Am J Med Genet A (2014) 0.81
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest (2015) 0.80
Constitutional and somatic methylation status of DMRH19 and KvDMR in Wilms tumor patients. Genet Mol Biol (2012) 0.80
Prevention of senescence progression in reversibly immortalized human ensheathing glia permits their survival after deimmortalization. Mol Ther (2009) 0.80
A new overgrowth syndrome is due to mutations in RNF125. Hum Mutat (2014) 0.79
Higher frequency of uncommon 1.5-2 Mb deletions found in familial cases of 22q11.2 deletion syndrome. Am J Med Genet A (2005) 0.79
A comparative anchorage control study between conventional and self-ligating bracket systems using differential moments. Angle Orthod (2013) 0.79
Craniofacial dyssynostosis: description of the first four Spanish cases and review. Am J Med Genet A (2005) 0.78
Segmental uniparental isodisomy of chromosome 6 causing transient diabetes mellitus and merosin-deficient congenital muscular dystrophy. Am J Med Genet A (2014) 0.77
Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings. Am J Med Genet A (2007) 0.77
Hyperekplexia (startle disease): a novel mutation (S270T) in the M2 domain of the GLRA1 gene and a molecular review of the disorder. Mol Diagn (2003) 0.77
A neuroregenerative human ensheathing glia cell line with conditional rapid growth. Cell Transplant (2010) 0.76
Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome. Am J Med Genet A (2005) 0.76
Salvage and functional rehabilitation of a massively crushed hand with two sequential free flaps. J Trauma (2002) 0.76
Alagille syndrome: cutaneous manifestations in 38 children. Pediatr Dermatol (2005) 0.76
Celiac disease and microcephaly. J Pediatr (2002) 0.75
New findings in craniofacial dyssynostosis. Am J Med Genet A (2005) 0.75
Other tumors in Sotos syndrome. Am J Med Genet A (2005) 0.75
Capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry and partial/generalized overgrowth (CLAPO): report of six cases of a new syndrome/association. Am J Med Genet A (2008) 0.75
Mietens-Weber syndrome: two new patients and a review. Clin Dysmorphol (2006) 0.75
Fetal gonadoblastoid testicular dysplasia: a focal failure of testicular development. Pediatr Dev Pathol (2007) 0.75
Umbilical cord stricture is not a genetic anomaly: a study in twins. Pediatr Dev Pathol (2007) 0.75
Unusual four-generation chromosome-22 rearrangement: when "normality" masks abnormality. Am J Med Genet A (2009) 0.75
Molecular characterization of an atypical inv dup del 8q. Proposal of a mechanism of formation. Am J Med Genet A (2011) 0.75
[Extracorporeal membrane oxygenation (ECMO): consolidation of a neonatal-pediatric program in Chile and report of three cases]. Rev Med Chil (2005) 0.75
Minimizing impairment in laborers with finger losses distal to the proximal interphalangeal joint by second toe transfer. Plast Reconstr Surg (2003) 0.75
A novel mutation in CDKN1C in sibs with Beckwith-Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases. Am J Med Genet A (2012) 0.75