Published in Am J Med Genet on April 01, 2001
Molecular karyotyping using an SNP array for genomewide genotyping. J Med Genet (2004) 1.95
Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. Am J Hum Genet (2003) 1.67
Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome. J Med Genet (2007) 1.45
Mowat-Wilson syndrome. Orphanet J Rare Dis (2007) 1.37
Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome. Eur J Hum Genet (2011) 1.20
Mdm38 interacts with ribosomes and is a component of the mitochondrial protein export machinery. J Cell Biol (2006) 1.19
Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk. PLoS One (2011) 1.06
Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn Syndrome. Eur J Hum Genet (2013) 0.97
Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports. Case Rep Genet (2012) 0.92
Suppression of lung tumorigenesis by leucine zipper/EF hand-containing transmembrane-1. PLoS One (2010) 0.84
Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome. J Med Genet (2016) 0.82
LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition. Dis Model Mech (2014) 0.81
Transgenic rescue of the mouse t complex haplolethal locus Thl1. Mamm Genome (2005) 0.81
Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype. Mol Cytogenet (2012) 0.78
Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth. Mol Cytogenet (2014) 0.77
The genetic overlap of attention deficit hyperactivity disorder and autistic spectrum disorder. Appl Clin Genet (2009) 0.76
Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature. Mol Cytogenet (2012) 0.75
Exploring the developmental mechanisms underlying Wolf-Hirschhorn Syndrome: Evidence for defects in neural crest cell migration. Dev Biol (2016) 0.75
C4ORF48, a gene from the Wolf-Hirschhorn syndrome critical region, encodes a putative neuropeptide and is expressed during neocortex and cerebellar development. Neurogenetics (2011) 0.75
Wolf-Hirschhorn Syndrome: Clinical and Genetic Data from a First Case Diagnosed in Central Africa. J Pediatr Genet (2017) 0.75
The origin of the major cystic fibrosis mutation (delta F508) in European populations. Nat Genet (1994) 4.94
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. Nat Genet (1998) 4.91
Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell (1998) 4.72
Genome-wide, large-scale production of mutant mice by ENU mutagenesis. Nat Genet (2000) 3.92
WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma. Hum Mol Genet (1998) 2.77
Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq. Am J Hum Genet (1988) 2.47
Exclusion of the neuronal nicotinic acetylcholine receptor alpha7 subunit gene as a candidate for catatonic schizophrenia in a large family supporting the chromosome 15q13-22 locus. Mol Psychiatry (2002) 2.01
In situ studies with membrane diffusion chambers of antibiotic resistance transfer in Escherichia coli. Appl Environ Microbiol (1982) 2.00
A genome-wide search for linkage to asthma. German Asthma Genetics Group. Genomics (1999) 2.00
Molecular karyotyping using an SNP array for genomewide genotyping. J Med Genet (2004) 1.95
Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B. Nat Genet (1999) 1.93
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. Am J Hum Genet (1998) 1.87
Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity. Am J Hum Genet (1999) 1.77
Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL). Cancer Res (2001) 1.75
Actinin-associated LIM protein: identification of a domain interaction between PDZ and spectrin-like repeat motifs. J Cell Biol (1997) 1.73
A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. Hum Mol Genet (1997) 1.71
Characterization of a mutation in the lens-specific MP70 encoding gene of the mouse leading to a dominant cataract. Exp Eye Res (2001) 1.69
The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease. Chromosome Res (1994) 1.63
Genome search for susceptibility loci of common idiopathic generalised epilepsies. Hum Mol Genet (2000) 1.61
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. Hum Mol Genet (1997) 1.60
Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster. Hum Mol Genet (1996) 1.59
High resolution characterization of an interstitial deletion of less than 1.9 Mb at 4p16.3 associated with Wolf-Hirschhorn syndrome. Am J Med Genet (1997) 1.56
A novel mutation and novel features in Nijmegen breakage syndrome. J Med Genet (2001) 1.50
Neonatal diabetes and intra-uterine growth retardation. Eur J Pediatr (1997) 1.44
Further observations of true mosaic trisomy 17 ascertained in amniotic fluid cell cultures. Prenat Diagn (1998) 1.44
Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9. Hum Genet (1996) 1.43
Thyroid function in paediatric and young adult patients after sarcoma therapy: a report from the Late Effects Surveillance System. Clin Endocrinol (Oxf) (2007) 1.42
The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21. Am J Hum Genet (1997) 1.41
Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree. Am J Hum Genet (2000) 1.41
Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation. Am J Dis Child (1971) 1.38
[Problems of delayed diagnosis of an uncomplicated adrenogenital syndrome (AGS) with 21-hydroxylase defect in a 7-year-old boy]. Dtsch Med Wochenschr (1998) 1.38
Acrocallosal syndrome in a child with de novo inverted tandem duplication of 12p11.2-p13.3. Ann Genet (1992) 1.38
Deficiency of coagulation factors VII and X associated with deletion of a chromosome 13 (q34). Evidence from two cases with 46,XY,t(13;Y)(q11;q34). Hum Genet (1982) 1.37
[Neonatal hyperthyroidism in non-diagnosed Basedow's disease of the mother. Problems of diagnosis and therapy illustrated by a case history]. Dtsch Med Wochenschr (1994) 1.37
Role of fatty acids in energy provision during oocyte maturation and early embryo development. Reprod Domest Anim (2009) 1.37
A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene. J Med Genet (2001) 1.31
Genomewide scan in german families reveals evidence for a novel psoriasis-susceptibility locus on chromosome 19p13. Am J Hum Genet (2000) 1.30
Partial trisomy 14 following a balanced reciprocal translocation t(14q-;21q+). Humangenetik (1973) 1.30
Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia. Am J Hum Genet (2006) 1.30
An integrated physical map of human chromosome 16. Nature (1995) 1.29
Successful treatment of ocular invasive mould infection (fusariosis) with the new antifungal agent voriconazole. Br J Ophthalmol (2000) 1.28
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene. Eur J Hum Genet (2000) 1.27
Reduced penetrance of the Huntington's disease mutation. Hum Mol Genet (1997) 1.25
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome. Am J Med Genet (2000) 1.24
The acute lymphoblastic leukaemia cell line SEM with t(4;11) chromosomal rearrangement is biphenotypic and responsive to interleukin-7. Br J Haematol (1994) 1.24
Systemic mycophenolate mofetil in comparison with systemic cyclosporin A in high-risk keratoplasty patients: 3 years' results of a randomized prospective clinical trial. Graefes Arch Clin Exp Ophthalmol (2001) 1.23
[Polysyndactyly, short limbs, and genital malformations--a new syndrome?]. Z Kinderheilkd (1971) 1.22
Methadone: applied pharmacology and use as adjunctive treatment in chronic pain. Postgrad Med J (2004) 1.22
Localisation of a gene for Papillon-Lefèvre syndrome to chromosome 11q14-q21 by homozygosity mapping. Hum Genet (1997) 1.21
Gene localization for an autosomal dominant familial periodic fever to 12p13. Am J Hum Genet (1998) 1.21
A novel 22q11.2 microdeletion in DiGeorge syndrome. Am J Hum Genet (1999) 1.20
Predictive value of nuclear beta-catenin expression for the occurrence of distant metastases in rectal cancer. Dis Colon Rectum (1998) 1.20
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. Nat Genet (2001) 1.20
A major susceptibility locus for atopic dermatitis maps to chromosome 3q21. Nat Genet (2000) 1.19
The oto-onycho-peroneal syndrome. A probably new genetic entity. Eur J Pediatr (1982) 1.18
Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27. Am J Hum Genet (1999) 1.18
Wnt inhibitory factor 1 induces apoptosis and inhibits cervical cancer growth, invasion and angiogenesis in vivo. Oncogene (2011) 1.17
Splitting schizophrenia: periodic catatonia-susceptibility locus on chromosome 15q15. Am J Hum Genet (2000) 1.17
Comparative analysis of a novel gene from the Wolf-Hirschhorn/Pitt-Rogers-Danks syndrome critical region. Genomics (1999) 1.15
Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations. Eur J Hum Genet (2000) 1.15
Breakdown of the inner and outer blood retinal barrier in streptozotocin-induced diabetes. Exp Eye Res (1998) 1.15
A study of ten small supernumerary (marker) chromosomes identified by fluorescence in situ hybridization (FISH). Clin Genet (1992) 1.14
The illiterate brain. Learning to read and write during childhood influences the functional organization of the adult brain. Brain (1998) 1.14
Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation. Neuroreport (2001) 1.13
The evolutionary distribution and structural organization of the homeobox-containing repeat D4Z4 indicates a functional role for the ancestral copy in the FSHD region. Hum Mol Genet (1996) 1.11
Primary structure and chromosomal localization of human and mouse rod photoreceptor cGMP-gated cation channel. J Biol Chem (1992) 1.11
In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome. Mol Syndromol (2012) 1.11
Plasma levels of aldosterone, corticosterone, 11-deoxycorticosterone, progesterone, 17-hydroxyprogesterone, cortisol, and cortisone during infancy and childhood. Pediatr Res (1980) 1.10
Environmental trichlorfon and cluster of congenital abnormalities. Lancet (1993) 1.10
Genetic and physical maps of human chromosome 4 based on dinucleotide repeats. Genomics (1992) 1.09
Neocentric small supernumerary marker chromosomes (sSMC)--three more cases and review of the literature. Cytogenet Genome Res (2007) 1.09
Partial trisomies of chromosome 21 in man. Two new observations due to translocations 19;21 and 4;21. Clin Genet (1977) 1.08
[The oro-facial-digital syndrome. Symptoms and prognosis]. Z Kinderheilkd (1972) 1.08
Phenotypic classification of male pseudohermaphroditism due to steroid 5 alpha-reductase 2 deficiency. Am J Med Genet (1996) 1.07
Acrofacial dysostosis (Nager syndrome): synopsis and report of a new case. Am J Med Genet (1983) 1.06
The ataxia-telangiectasia-variant genes 1 and 2 are distinct from the ataxia-telangiectasia gene on chromosome 11q23.1. Am J Hum Genet (1995) 1.06
[Observations on the problem of sex-linked recessive mental retardation]. Arch Psychiatr Nervenkr (1970) (1969) 1.06
Hereditary spastic paraplegia caused by mutations in the SPG4 gene. Eur J Hum Genet (2000) 1.06
A novel in situ method for the detection of deficient transglutaminase activity in the skin. Arch Dermatol Res (1998) 1.05
Spectrum of mutations and genotype-phenotype analysis in Currarino syndrome. Eur J Hum Genet (2001) 1.05
Nijmegen breakage syndrome: consequences of defective DNA double strand break repair. Bioessays (1999) 1.05
Deletion 15q24-26 in prenatally detected diaphragmatic hernia: increasing evidence of a candidate region for diaphragmatic development. Prenat Diagn (2001) 1.04
Atelosteogenesis. Am J Med Genet (1982) 1.04
Evidence for susceptibility determinant(s) to psoriasis vulgaris in or near PTPN22 in German patients. J Med Genet (2005) 1.03
Localisation of gene for the naevoid basal-cell carcinoma syndrome. Lancet (1992) 1.03
[First guidelines of the Brazilian Society of Cardiology on Cardiopulmonary Resuscitation and Cardiovascular Emergency Care]. Arq Bras Cardiol (2013) 1.03
A YAC contig spanning a cluster of human type III receptor protein tyrosine kinase genes (PDGFRA-KIT-KDR) in chromosome segment 4q12. Genomics (1994) 1.03
Fine mapping and single nucleotide polymorphism association results of candidate genes for asthma and related phenotypes. Hum Mutat (2001) 1.03
[Reciprocal translocation between a chromosome number 21 (G1) and a chromosome of the group C(C6)]. Helv Paediatr Acta (1967) 1.02
Characterisation of psoriasis susceptibility locus 6 (PSORS6) in patients with early onset psoriasis and evidence for interaction with PSORS1. J Med Genet (2009) 1.02
A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4. Genomics (1991) 1.02
The Fanconi anemia group E gene, FANCE, maps to chromosome 6p. Am J Hum Genet (1999) 1.02
An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region. Hum Genet (1987) 1.02
A family with Huntington disease and reciprocal translocation 4;5. Am J Hum Genet (1986) 1.02
Mutation screening at the RNA level of the STK11/LKB1 gene in Peutz-Jeghers syndrome reveals complex splicing abnormalities and a novel mRNA isoform (STK11 c.597(insertion mark)598insIVS4). Hum Mutat (2001) 1.02
Missense variations in the cystic fibrosis gene: heteroduplex formation in the F508C mutation. Am J Hum Genet (1992) 1.01
Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromsome 4q35 recombination events. Nat Genet (1993) 1.01
The endocrine spectrum of arachnoid cysts in childhood. Pediatr Neurosurg (1999) 1.01