Published in Am J Hum Genet on December 01, 1999
Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene tg737, are required for assembly of cilia and flagella. J Cell Biol (2000) 7.04
Mucus clearance as a primary innate defense mechanism for mammalian airways. J Clin Invest (2002) 5.94
Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins. Nature (2008) 3.28
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. Am J Respir Crit Care Med (2006) 2.92
The 9 + 2 axoneme anchors multiple inner arm dyneins and a network of kinases and phosphatases that control motility. J Cell Biol (2000) 2.89
Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. Thorax (2011) 2.80
Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Genet Med (2009) 2.71
Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia. Am J Respir Crit Care Med (2005) 2.25
Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. Proc Natl Acad Sci U S A (2002) 2.21
Picking up speed: advances in the genetics of primary ciliary dyskinesia. Pediatr Res (2013) 2.17
DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. Am J Hum Genet (2008) 2.17
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. Am J Hum Genet (2009) 2.10
A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia. Proc Natl Acad Sci U S A (2007) 2.03
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. Am J Hum Genet (2012) 1.91
The transcription factor RFX3 directs nodal cilium development and left-right asymmetry specification. Mol Cell Biol (2004) 1.87
Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. Am J Respir Crit Care Med (2006) 1.80
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. Nat Genet (2012) 1.78
Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome). Am J Hum Genet (2001) 1.75
Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia. Am J Hum Genet (2012) 1.60
RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa. J Med Genet (2005) 1.56
Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes. J Med Genet (2005) 1.44
DYX1C1 is required for axonemal dynein assembly and ciliary motility. Nat Genet (2013) 1.44
Inactivation of Chibby affects function of motile airway cilia. J Cell Biol (2009) 1.38
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. Hum Mutat (2013) 1.31
Primary ciliary dyskinesia in mice lacking the novel ciliary protein Pcdp1. Mol Cell Biol (2007) 1.26
IC138 is a WD-repeat dynein intermediate chain required for light chain assembly and regulation of flagellar bending. Mol Biol Cell (2004) 1.25
Conditional deletion of dnaic1 in a murine model of primary ciliary dyskinesia causes chronic rhinosinusitis. Am J Respir Cell Mol Biol (2009) 1.22
Primary ciliary dyskinesia: improving the diagnostic approach. Curr Opin Pediatr (2009) 1.21
Mechanical control of tissue morphogenesis. Circ Res (2008) 1.20
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. Am J Hum Genet (2013) 1.17
Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia. Am J Hum Genet (2013) 1.17
An intronic insertion in KPL2 results in aberrant splicing and causes the immotile short-tail sperm defect in the pig. Proc Natl Acad Sci U S A (2006) 1.17
Primary ciliary dyskinesia, an orphan disease. Eur J Pediatr (2012) 1.14
Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. Am J Respir Crit Care Med (2014) 1.14
Diagnosis and management of primary ciliary dyskinesia. Cilia (2015) 1.14
The dynamic cilium in human diseases. Pathogenetics (2009) 1.13
Tales of the tail and sperm head aches: changing concepts on the prognostic significance of sperm pathologies affecting the head, neck and tail. Asian J Androl (2011) 1.12
CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia. PLoS One (2013) 1.12
Recent advances in primary ciliary dyskinesia genetics. J Med Genet (2014) 1.10
Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. Am J Hum Genet (2013) 1.08
LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects. PLoS One (2013) 1.04
Do we know anything about how left-right asymmetry is first established in the vertebrate embryo? J Mol Histol (2005) 1.03
Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients. PLoS One (2012) 1.02
Cilia and Diseases. Bioscience (2014) 1.02
Management of primary ciliary dyskinesia/Kartagener's syndrome in infertile male patients and current progress in defining the underlying genetic mechanism. Asian J Androl (2013) 1.00
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation. Am J Hum Genet (2014) 0.98
Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype. Am J Respir Cell Mol Biol (2008) 0.96
The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia. Hum Genet (2000) 0.95
Reptin/Ruvbl2 is a Lrrc6/Seahorse interactor essential for cilia motility. Proc Natl Acad Sci U S A (2013) 0.94
MNS1 is essential for spermiogenesis and motile ciliary functions in mice. PLoS Genet (2012) 0.93
Ciliary beating recovery in deficient human airway epithelial cells after lentivirus ex vivo gene therapy. PLoS Genet (2009) 0.93
Computer-assisted image analysis of human cilia and Chlamydomonas flagella reveals both similarities and differences in axoneme structure. Cytoskeleton (Hoboken) (2012) 0.92
Gene expression studies in cells from primary ciliary dyskinesia patients identify 208 potential ciliary genes. Hum Genet (2010) 0.91
FOXJ1 prevents cilia growth inhibition by cigarette smoke in human airway epithelium in vitro. Am J Respir Cell Mol Biol (2014) 0.90
Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects. Am J Respir Cell Mol Biol (2015) 0.90
Ion Torrent sequencing for conducting genome-wide scans for mutation mapping analysis. Mamm Genome (2013) 0.87
The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. Ann Am Thorac Soc (2014) 0.87
Systematic discovery of novel ciliary genes through functional genomics in the zebrafish. Development (2014) 0.86
Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder. F1000Prime Rep (2015) 0.86
Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD). Respir Res (2010) 0.84
Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex. Am J Hum Genet (2015) 0.84
Linkage analysis localises a Kartagener syndrome gene to a 3.5 cM region on chromosome 15q24-25. J Med Genet (2006) 0.83
Drosophila Dynein intermediate chain gene, Dic61B, is required for spermatogenesis. PLoS One (2011) 0.83
Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population. Eur J Hum Genet (2014) 0.83
Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families. Ann Hum Genet (2010) 0.81
DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes. Am J Respir Cell Mol Biol (2016) 0.80
HEATR2 plays a conserved role in assembly of the ciliary motile apparatus. PLoS Genet (2014) 0.80
RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes. Am J Hum Genet (2015) 0.80
Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder. Hum Genet (2014) 0.79
Ciliary ultrastructure in two sisters with Kartagener's syndrome. Med Mol Morphol (2007) 0.78
CRISPR/Cas9-Mediated Rapid Generation of Multiple Mouse Lines Identified Ccdc63 as Essential for Spermiogenesis. Int J Mol Sci (2015) 0.78
Chlamydomonas axonemal dynein assembly locus ODA8 encodes a conserved flagellar protein needed for cytoplasmic maturation of outer dynein arm complexes. Cytoskeleton (Hoboken) (2015) 0.78
In vitro culturing of ciliary respiratory cells--a model for studies of genetic diseases. J Appl Genet (2010) 0.78
Muco-ciliary differentiation of nasal epithelial cells is decreased after wound healing in vitro. Allergy (2009) 0.78
Restoring ciliary function to differentiated primary ciliary dyskinesia cells with a lentiviral vector. Gene Ther (2014) 0.78
Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects. Am J Hum Genet (2016) 0.77
Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities. J Pediatr (2013) 0.77
Ciliary genes are down-regulated in bronchial tissue of primary ciliary dyskinesia patients. PLoS One (2014) 0.77
Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms. Hum Mol Genet (2016) 0.76
An innovative lab-based training program to help patient groups understand their disease and the research process. PLoS Biol (2015) 0.75
Primary ciliary dyskinesia and associated sensory ciliopathies. Expert Rev Respir Med (2016) 0.75
Clinical findings and prevalence of the mutation associated with primary ciliary dyskinesia in Old English Sheepdogs. J Vet Intern Med (2014) 0.75
Various facets of vertebrate cilia: motility, signaling, and role in adult neurogenesis. Proc Jpn Acad Ser B Phys Biol Sci (2009) 0.75
Changing Faces of Transcriptional Regulation Reflected by Zic3. Curr Genomics (2015) 0.75
Kartagener's syndrome: review of a case series. Multidiscip Respir Med (2015) 0.75
The evolving spectrum of ciliopathies and respiratory disease. Curr Opin Pediatr (2016) 0.75
Successful treatment of chronic lower respiratory tract infection by macrolide administration in a patient with intralobar pulmonary sequestration and primary ciliary dyskinesia. Respir Med Case Rep (2015) 0.75
An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families. Sci Rep (2017) 0.75
Primary ciliary dyskinesia: mechanisms and management. Appl Clin Genet (2017) 0.75
CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Res (1994) 392.47
The neighbor-joining method: a new method for reconstructing phylogenetic trees. Mol Biol Evol (1987) 266.90
Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc Natl Acad Sci U S A (1986) 12.92
The ancient regulatory-protein family of WD-repeat proteins. Nature (1994) 9.33
The WD repeat: a common architecture for diverse functions. Trends Biochem Sci (1999) 8.39
A human syndrome caused by immotile cilia. Science (1976) 5.16
Multiple nucleotide-binding sites in the sequence of dynein beta heavy chain. Nature (1991) 3.36
DYNEINS: molecular structure and cellular function. Annu Rev Cell Biol (1994) 3.26
Four ATP-binding sites in the midregion of the beta heavy chain of dynein. Nature (1991) 2.59
Dynein arms are oscillating force generators. Nature (1998) 2.47
Identification of oda6 as a Chlamydomonas dynein mutant by rescue with the wild-type gene. J Cell Biol (1991) 2.42
The 78,000 M(r) intermediate chain of Chlamydomonas outer arm dynein isa WD-repeat protein required for arm assembly. J Cell Biol (1995) 2.26
The Mr 78,000 intermediate chain of Chlamydomonas outer arm dynein interacts with alpha-tubulin in situ. J Biol Chem (1991) 2.23
The light chain p28 associates with a subset of inner dynein arm heavy chains in Chlamydomonas axonemes. Mol Biol Cell (1995) 1.94
Phylogeny and expression of axonemal and cytoplasmic dynein genes in sea urchins. Mol Biol Cell (1994) 1.90
Molecular analysis of the gamma heavy chain of Chlamydomonas flagellar outer-arm dynein. J Cell Sci (1994) 1.90
Homology of the 74-kD cytoplasmic dynein subunit with a flagellar dynein polypeptide suggests an intracellular targeting function. J Cell Biol (1992) 1.81
A simple method for simultaneous R- or G-banding and fluorescence in situ hybridization of small single-copy genes. Cytogenet Cell Genet (1992) 1.64
Identification and molecular evolution of new dynein-like protein sequences in rat brain. J Cell Sci (1995) 1.59
The Mr 140,000 intermediate chain of Chlamydomonas flagellar inner arm dynein is a WD-repeat protein implicated in dynein arm anchoring. Mol Biol Cell (1998) 1.58
Mutations in the SUP-PF-1 locus of Chlamydomonas reinhardtii identify a regulatory domain in the beta-dynein heavy chain. J Cell Biol (1994) 1.49
A Chlamydomonas outer arm dynein mutant with a truncated beta heavy chain. J Cell Biol (1993) 1.48
A Chlamydomonas outer arm dynein mutant missing the alpha heavy chain. J Cell Biol (1991) 1.46
A family of dynein genes in Drosophila melanogaster. Mol Biol Cell (1994) 1.44
The immotile-cilia syndrome: a microtubule-associated defect. CRC Crit Rev Biochem (1985) 1.44
Axonemal dyneins. Curr Opin Cell Biol (1992) 1.41
Axonemal dyneins: assembly, organization, and regulation. Curr Opin Cell Biol (1996) 1.35
The dynein gene family in Chlamydomonas reinhardtii. Genetics (1996) 1.33
Molecular analysis of the microtubule motor dynein. Proc Natl Acad Sci U S A (1993) 1.32
The Chlamydomonas IDA7 locus encodes a 140-kDa dynein intermediate chain required to assemble the I1 inner arm complex. Mol Biol Cell (1998) 1.28
Cytoplasmic dynein intermediate-chain isoforms with different targeting properties created by tissue-specific alternative splicing. Mol Cell Biol (1998) 1.27
ida4-1, ida4-2, and ida4-3 are intron splicing mutations affecting the locus encoding p28, a light chain of Chlamydomonas axonemal inner dynein arms. Mol Biol Cell (1995) 1.26
The Chlamydomonas Dhc1 gene encodes a dynein heavy chain subunit required for assembly of the I1 inner arm complex. Mol Biol Cell (1997) 1.26
The 78,000-M(r) intermediate chain of Chlamydomonas outer arm dynein is a microtubule-binding protein. J Cell Biol (1995) 1.20
The sup-pf-2 mutations of Chlamydomonas alter the activity of the outer dynein arms by modification of the gamma-dynein heavy chain. J Cell Biol (1996) 1.17
Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome). J Med Genet (1994) 1.16
Multiple mouse chromosomal loci for dynein-based motility. Genomics (1996) 1.13
Is outer arm dynein intermediate chain 1 multifunctional? Mol Biol Cell (1996) 1.08
Genetic aspects of immotile cilia syndrome. Am J Med Genet (1986) 1.07
The dynein genes of Paramecium tetraurelia. Sequences adjacent to the catalytic P-loop identify cytoplasmic and axonemal heavy chain isoforms. J Cell Sci (1994) 1.05
Interspecies conservation of outer arm dynein intermediate chain sequences defines two intermediate chain subclasses. Mol Biol Cell (1995) 1.05
The dyskinetic cilia syndrome. Ciliary motility in immotile cilia syndrome. Chest (1980) 1.03
Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment. FEBS Lett (1997) 1.03
Flagella in prokaryotes and lower eukaryotes. Curr Opin Genet Dev (1992) 1.00
Genetic heterogeneity of dynein-deficiency in cilia from patients with respiratory disease. Am Rev Respir Dis (1982) 0.99
Identification of seven rat axonemal dynein heavy chain genes: expression during ciliated cell differentiation. Mol Biol Cell (1996) 0.98
Cloning and characterization of two cytoplasmic dynein intermediate chain genes in mouse and human. Genomics (1999) 0.96
Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene. Gene (1997) 0.93
Dissimilar expression of axonemal anomalies in respiratory cilia and sperm flagella in infertile men. Am Rev Respir Dis (1990) 0.92
Exclusion of chromosome 7 for Kartagener syndrome but suggestion of linkage in families with other forms of primary ciliary dyskinesia. Am J Hum Genet (1999) 0.89
Characterization of a novel human dynein-related gene that is specifically expressed in testis. Mamm Genome (1996) 0.87
Complementary deoxyribonucleic acid cloning and characterization of a putative human axonemal dynein light chain gene. J Clin Endocrinol Metab (1997) 0.85
SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet (1998) 3.82
DNA analysis in the diagnosis of hemoglobin disorders. Methods Enzymol (1981) 3.15
Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression. Proc Natl Acad Sci U S A (1988) 3.11
Homology and concerted evolution at the alpha 1 and alpha 2 loci of human alpha-globin. Nature (1981) 2.97
Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation. J Clin Invest (1998) 2.68
Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome. Hum Mol Genet (2000) 2.63
Triplicated alpha-globin loci in humans. Proc Natl Acad Sci U S A (1980) 2.61
Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase. Nucleic Acids Res (1986) 2.56
Laron dwarfism and mutations of the growth hormone-receptor gene. N Engl J Med (1989) 2.45
Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease. Proc Natl Acad Sci U S A (1998) 2.15
Mutations in NALP12 cause hereditary periodic fever syndromes. Proc Natl Acad Sci U S A (2008) 2.06
Molecular cloning and nucleotide sequence of a complete human uroporphyrinogen decarboxylase cDNA. J Biol Chem (1986) 2.05
Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis. Hum Genet (1990) 2.05
Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling. Arch Otolaryngol Head Neck Surg (2001) 1.97
Hepatosplenic T-cell lymphoma: sinusal/sinusoidal localization of malignant cells expressing the T-cell receptor gamma delta. Blood (1990) 1.81
Mowat-Wilson syndrome. J Med Genet (2003) 1.75
Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood (1995) 1.59
Extensive lymphangioma presenting with upper airway obstruction. Arch Otolaryngol Head Neck Surg (2000) 1.58
A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia. Eur Respir J (2009) 1.58
Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease. Hum Mol Genet (2001) 1.58
Mucin gene (MUC 2 and MUC 5AC) upregulation by Gram-positive and Gram-negative bacteria. Biochim Biophys Acta (1998) 1.57
RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa. J Med Genet (2005) 1.56
Haemophilia B: database of point mutations and short additions and deletions--eighth edition. Nucleic Acids Res (1998) 1.54
Mycobacterial lung disease in cystic fibrosis: a prospective study. Pediatr Infect Dis J (1997) 1.49
Haemophilia B: database of point mutations and short additions and deletions--fourth edition, 1993. Nucleic Acids Res (1993) 1.49
Large differences in cost of illness and wellbeing between patients with fibromyalgia, chronic low back pain, or ankylosing spondylitis. Ann Rheum Dis (2004) 1.49
A 5' splice-region G----C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemia. Proc Natl Acad Sci U S A (1989) 1.48
Haemophilia B (sixth edition): a database of point mutations and short additions and deletions. Nucleic Acids Res (1996) 1.44
Detection of five rare cystic fibrosis mutations peculiar to Southern Italy: implications in screening for the disease and phenotype characterization for patients with homozygote mutations. Clin Chem (1999) 1.44
MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications. Am J Hum Genet (1999) 1.44
Nasal dermoid sinus cysts in children. Laryngoscope (1997) 1.39
Rhinitis and epistaxis in patients treated by anti-angiogenic therapy. Invest New Drugs (2008) 1.39
Long-lasting catch-up growth under bio-methionyl growth hormone treatment in an infant with isolated growth hormone deficiency type 1A. Acta Paediatr Scand (1991) 1.38
A MspI polymorphism for the human porphobilinogen deaminase gene. Nucleic Acids Res (1987) 1.37
Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency. Nat Genet (2000) 1.37
Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10. Hum Mol Genet (2001) 1.37
Globin structural mutant alpha 125Leu leads to Pro is a novel cause of alpha-thalassaemia. Nature (1982) 1.37
Tissue-specific splicing mutation in acute intermittent porphyria. Proc Natl Acad Sci U S A (1989) 1.37
Haemophilia B: database of point mutations and short additions and deletions--third edition, 1992. Nucleic Acids Res (1992) 1.36
Functional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patients. J Biol Chem (1998) 1.36
Prenatal diagnosis of sickle-cell anemia in the first trimester of pregnancy. N Engl J Med (1983) 1.35
CFTR gene mutations in adults with disseminated bronchiectasis. Eur J Hum Genet (1997) 1.35
Ciliary abnormalities in bronchial epithelium of smokers, ex-smokers, and nonsmokers. Am J Respir Crit Care Med (1995) 1.32
The 12;21 translocation involving TEL and deletion of the other TEL allele: two frequently associated alterations found in childhood acute lymphoblastic leukemia. Blood (1996) 1.30
Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene. J Clin Invest (1992) 1.29
Haemophilia B: database of point mutations and short additions and deletions--second edition. Nucleic Acids Res (1991) 1.29
Congenital tracheoesophageal fistula without esophageal atresia. Int J Pediatr Otorhinolaryngol (1999) 1.29
Isolation and identification of a cDNA clone coding for rat uroporphyrinogen decarboxylase. Proc Natl Acad Sci U S A (1984) 1.27
Mutations in the catalytic domain of human coagulation factor IX: rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behavior. Genomics (1989) 1.26
Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France. Ann Rheum Dis (2010) 1.26
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. Am J Hum Genet (2000) 1.26
A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa. Nat Genet (1993) 1.25
Lisfranc's fracture-dislocations: etiology, radiology, and results of treatment. A review of 20 cases. Clin Orthop Relat Res (1983) 1.24
Haemophilia B due to a de novo insertion of a human-specific Alu subfamily member within the coding region of the factor IX gene. Eur J Hum Genet (1993) 1.24
Species-specific alternative splice mimicry at the growth hormone receptor locus revealed by the lineage of retroelements during primate evolution. J Biol Chem (2000) 1.23
Molecular cloning of a cDNA sequence complementary to porphobilinogen deaminase mRNA from rat. Proc Natl Acad Sci U S A (1984) 1.22
Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994. Nucleic Acids Res (1994) 1.21
Haemophilia B: database of point mutations and short additions and deletions. Nucleic Acids Res (1990) 1.20
Alveolar hemorrhage. Diagnostic criteria and results in 194 immunocompromised hosts. Am J Respir Crit Care Med (1995) 1.20
Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens. Eur J Hum Genet (1995) 1.19
Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease. Hum Mutat (2007) 1.19
Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. Am J Hum Genet (2001) 1.18
A dimorphic 4-bp repeat in the cystic fibrosis gene is in absolute linkage disequilibrium with the delta F508 mutation: implications for prenatal diagnosis and mutation origin. Am J Hum Genet (1991) 1.18
Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis. J Med Genet (2004) 1.18
A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. Hum Mol Genet (1999) 1.17
Molecular cloning and sequencing of the human erythrocyte 2,3-bisphosphoglycerate mutase cDNA: revised amino acid sequence. EMBO J (1986) 1.17
DNA polymorphism of human porphobilinogen deaminase gene in acute intermittent porphyria. Lancet (1987) 1.17
The MTCP-1/c6.1B gene encodes for a cytoplasmic 8 kD protein overexpressed in T cell leukemia bearing a t(X;14) translocation. Oncogene (1994) 1.17
Clinical versus genetic diagnosis of familial Mediterranean fever. QJM (2000) 1.17
Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer. Br J Cancer (2007) 1.16
Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever. Am J Hum Genet (2000) 1.16
Evaluation of parental mitochondrial inheritance in neonates born after intracytoplasmic sperm injection. Am J Hum Genet (1999) 1.15
Carbohydrate reserves as a competing sink: evidence from tapping rubber trees. Tree Physiol (2007) 1.15
Distribution of lysozyme and mucin (MUC2 and MUC3) mRNA in human bronchus. Exp Lung Res (1995) 1.15
Two cloned beta thalassemia genes are associated with amber mutations at codon 39. Nucleic Acids Res (1981) 1.14
Radiofrequency is a safe and effective treatment of turbinate hypertrophy. Laryngoscope (2001) 1.14
[Vincristine treatment for function- and life-threatening infantile hemangioma]. Arch Pediatr (2004) 1.13
Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa. Am J Hum Genet (1994) 1.10
Childhood cholesteatoma. Eur Ann Otorhinolaryngol Head Neck Dis (2010) 1.09
Selection of maternal human immunodeficiency virus type 1 variants in human placenta. European Network for In Utero Transmission of HIV-1. J Infect Dis (1999) 1.09
Defective membrane expression of human growth hormone (GH) receptor causes Laron-type GH insensitivity syndrome. Proc Natl Acad Sci U S A (1991) 1.06