1
|
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.
|
Cell
|
2001
|
11.99
|
2
|
Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9.
|
Cell
|
1994
|
7.39
|
3
|
Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene.
|
Nat Genet
|
1996
|
4.36
|
4
|
Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome.
|
Nat Genet
|
1998
|
3.18
|
5
|
Regulation of chondrocyte differentiation by Cbfa1.
|
Mech Dev
|
1999
|
2.73
|
6
|
Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter.
|
Nature
|
1991
|
2.45
|
7
|
Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I.
|
Nat Genet
|
2000
|
2.23
|
8
|
The type II collagenopathies: a spectrum of chondrodysplasias.
|
Eur J Pediatr
|
1994
|
2.07
|
9
|
Nuclear localization of the protein encoded by the Wilms' tumor gene WT1 in embryonic and adult tissues.
|
Development
|
1993
|
2.02
|
10
|
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13.
|
Am J Hum Genet
|
1996
|
1.89
|
11
|
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
|
Am J Hum Genet
|
2000
|
1.80
|
12
|
PAX8, a human paired box gene: isolation and expression in developing thyroid, kidney and Wilms' tumors.
|
Development
|
1992
|
1.77
|
13
|
Anaplastic Wilms' tumour, a subtype displaying poor prognosis, harbours p53 gene mutations.
|
Nat Genet
|
1994
|
1.76
|
14
|
A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein.
|
Genes Dev
|
1994
|
1.65
|
15
|
Mutation analysis of LMX1B gene in nail-patella syndrome patients.
|
Am J Hum Genet
|
1998
|
1.49
|
16
|
Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome.
|
Nat Genet
|
2001
|
1.37
|
17
|
Functional characterization of human nucleosome assembly protein-2 (NAP1L4) suggests a role as a histone chaperone.
|
Genomics
|
1997
|
1.28
|
18
|
Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11.
|
Am J Hum Genet
|
1996
|
1.23
|
19
|
[Partial trisomy for the distal part of the long arm of chromosome 15 due to a balanced maternal X/15 tranlsocation].
|
Ann Genet
|
1977
|
1.19
|
20
|
LMX1B transactivation and expression in nail-patella syndrome.
|
Hum Mol Genet
|
2000
|
1.15
|
21
|
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.
|
Am J Hum Genet
|
2001
|
1.12
|
22
|
Identification and characterization of MTR1, a novel gene with homology to melastatin (MLSN1) and the trp gene family located in the BWS-WT2 critical region on chromosome 11p15.5 and showing allele-specific expression.
|
Hum Mol Genet
|
2000
|
1.09
|
23
|
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.
|
J Med Genet
|
2003
|
1.07
|
24
|
A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes.
|
Proc Natl Acad Sci U S A
|
1992
|
1.07
|
25
|
Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).
|
Am J Med Genet
|
1998
|
1.06
|
26
|
Mtr1, a novel biallelically expressed gene in the center of the mouse distal chromosome 7 imprinting cluster, is a member of the Trp gene family.
|
Genomics
|
2000
|
1.05
|
27
|
Mutations in the basic core promotor and the precore region of hepatitis B virus and their selection in children with fulminant and chronic hepatitis B.
|
Hepatology
|
1999
|
1.05
|
28
|
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.
|
J Med Genet
|
2010
|
1.05
|
29
|
Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype.
|
Pediatr Radiol
|
2001
|
1.04
|
30
|
One gene, two transcripts: isolation of an alternative transcript encoding for the autoantigen La/SS-B from a cDNA library of a patient with primary Sjögrens' syndrome.
|
J Exp Med
|
1994
|
1.04
|
31
|
Ten novel mutations found in Aniridia.
|
Hum Mutat
|
1998
|
1.03
|
32
|
A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia.
|
Physiol Genomics
|
2000
|
1.03
|
33
|
Developmental expression of splicing variants of fibroblast growth factor receptor 3 (FGFR3) in mouse.
|
Int J Dev Biol
|
1996
|
1.02
|
34
|
Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2).
|
Eur J Hum Genet
|
1998
|
1.00
|
35
|
FISH mapping of the sex-reversal region on human chromosome 9p in two XY females and in primates.
|
Eur J Hum Genet
|
2000
|
1.00
|
36
|
Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene.
|
Am J Med Genet A
|
2005
|
1.00
|
37
|
The Wilms' tumor suppressor gene (wt1) product regulates Dax-1 gene expression during gonadal differentiation.
|
Mol Cell Biol
|
1999
|
1.00
|
38
|
Molecular genetics of intestinal glucose transport.
|
J Clin Invest
|
1991
|
0.99
|
39
|
Report of the Fifth International Workshop on Human Chromosome 11 Mapping 1996.
|
Cytogenet Cell Genet
|
1996
|
0.98
|
40
|
Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.
|
J Med Genet
|
1996
|
0.97
|
41
|
Partial trisomy for short and long arm of chromosome no. 5: Two cases of two possible syndromes.
|
J Med Genet
|
1978
|
0.96
|
42
|
Partial trisomy 12q.
|
J Med Genet
|
1981
|
0.95
|
43
|
Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II.
|
Am J Med Genet
|
1992
|
0.95
|
44
|
Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome.
|
Am J Hum Genet
|
1991
|
0.94
|
45
|
Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia.
|
Am J Hum Genet
|
1999
|
0.94
|
46
|
Acromesomelic dysplasia Maroteaux type maps to human chromosome 9.
|
Am J Hum Genet
|
1998
|
0.93
|
47
|
RNAi knock-down mice: an emerging technology for post-genomic functional genetics.
|
Cytogenet Genome Res
|
2004
|
0.93
|
48
|
Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: implications for genetic counselling.
|
J Med Genet
|
2000
|
0.92
|
49
|
Systematic screening of an arrayed cDNA library by PCR.
|
Proc Natl Acad Sci U S A
|
1995
|
0.92
|
50
|
WT1 mutations associated with incomplete Denys-Drash syndrome define a domain predicted to behave in a dominant-negative fashion.
|
Genomics
|
1994
|
0.91
|
51
|
An unknown spondylo-meta-epiphyseal dysplasia in sibs with extreme short stature.
|
Am J Med Genet
|
1996
|
0.90
|
52
|
Non-radioactive multiplex-SSCP analysis: detection of a new type II procollagen gene (COL2A1) mutation.
|
Hum Genet
|
1995
|
0.89
|
53
|
Human fibroblast growth factor receptor 3 gene (FGFR3): genomic sequence and primer set information for gene analysis.
|
Hum Genet
|
1997
|
0.89
|
54
|
Distribution of osteonectin mRNA and protein during human embryonic and fetal development.
|
J Histochem Cytochem
|
1992
|
0.88
|
55
|
Short arm deletion of an X chromosome, 46,XXp-.
|
Hum Genet
|
1976
|
0.87
|
56
|
SSCP and segregation analysis of the human type X collagen gene (COL10A1) in heritable forms of chondrodysplasia.
|
Am J Hum Genet
|
1992
|
0.87
|
57
|
Direct pulsed field gel electrophoresis of Wilms' tumors shows that DNA deletions in 11p13 are rare.
|
Genes Chromosomes Cancer
|
1991
|
0.86
|
58
|
Schmid-type metaphyseal chondrodysplasia as the result of a collagen type X defect due to a novel COL10A1 nonsense mutation: A case report of a novel COL10A1 mutation.
|
J Orthop Sci
|
2011
|
0.86
|
59
|
Severe factor V deficiency presenting as subdural haematoma in the newborn.
|
Eur J Pediatr
|
1998
|
0.85
|
60
|
Mapping and structure of DMXL1, a human homologue of the DmX gene from Drosophila melanogaster coding for a WD repeat protein.
|
Genomics
|
2000
|
0.85
|
61
|
Oncogene-blocking therapies: new insights from conditional mouse tumor models.
|
Curr Cancer Drug Targets
|
2006
|
0.85
|
62
|
Genomic imbalances in 61 renal cancers from the proximal tubulus detected by comparative genomic hybridization.
|
Cytogenet Cell Genet
|
2001
|
0.85
|
63
|
Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defect.
|
Am J Med Genet
|
1997
|
0.84
|
64
|
Equal expression of typ X collagen mRNA fom mutant and wild type COL10A1 alleles in growth plate cartilage from a patient with metaphyseal chondrodysplasia type Schmid.
|
J Med Genet
|
2000
|
0.84
|
65
|
Somatic cell hybrid and long-range physical mapping of 11p13 microdissected genomic clones.
|
Proc Natl Acad Sci U S A
|
1990
|
0.83
|
66
|
Comparative genomic sequencing reveals a strikingly similar architecture of a conserved syntenic region on human chromosome 11p15.3 (including gene ST5) and mouse chromosome 7.
|
Cytogenet Cell Genet
|
2001
|
0.83
|
67
|
Supernumerary small ring chromosome.
|
Humangenetik
|
1974
|
0.83
|
68
|
Developmental expression of human cartilage matrix protein.
|
Dev Dyn
|
1994
|
0.82
|
69
|
New point mutation (R243W) in the hormone binding domain of the c-erbA beta 1 gene in a family with generalized resistance to thyroid hormone.
|
Hum Mutat
|
1996
|
0.82
|
70
|
A girl with partial long-arm deletion of chromosome 11 and familial pericentric inversion of chromosome 9.
|
Hum Genet
|
1977
|
0.82
|
71
|
Cloning, characterization, and chromosomal assignment of the human ortholog of murine Zfp-37, a candidate gene for Nager syndrome.
|
Mamm Genome
|
1998
|
0.82
|
72
|
Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia.
|
Hum Mol Genet
|
1994
|
0.82
|
73
|
Distribution of cartilage proteoglycan (aggrecan) core protein and link protein gene expression during human skeletal development.
|
Matrix
|
1991
|
0.81
|
74
|
Improved definition of chromosomal breakpoints using high-resolution multicolour banding.
|
Hum Genet
|
2001
|
0.81
|
75
|
[Molecular genetic study of the PAX6 gene in aniridia patients].
|
Ophthalmologe
|
1998
|
0.80
|
76
|
Short-arm deletion of an X chromosome (45,XO/46,XX p--).
|
Hum Genet
|
1977
|
0.80
|
77
|
The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia.
|
J Med Genet
|
1996
|
0.80
|
78
|
No evidence for sequences structurally related to the RB1 gene in the human genome.
|
Hum Genet
|
1991
|
0.80
|
79
|
Human CLAPS2 encoding AP17, a small chain of the clathrin-associated protein complex: cDNA cloning and chromosomal assignment to 19q13.2-->q13.3.
|
Cytogenet Cell Genet
|
1996
|
0.80
|
80
|
Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia.
|
Pediatr Radiol
|
1994
|
0.79
|
81
|
4-Epidoxycycline: an alternative to doxycycline to control gene expression in conditional mouse models.
|
Biochem Biophys Res Commun
|
2004
|
0.79
|
82
|
Nephropathy with Wilms tumour or gonadal dysgenesis: incomplete Denys-Drash syndrome or separate diseases?
|
Eur J Pediatr
|
1995
|
0.78
|
83
|
Retracted
Loss of heterozygosity studies and deletion mapping identify two putative chromosome 14q tumor suppressor loci in renal oncocytomas.
|
Cancer Res
|
1997
|
0.78
|
84
|
A disorder resembling pseudoachondroplasia but without COMP mutation.
|
Am J Med Genet A
|
2005
|
0.78
|
85
|
Phenotypic variability in patients with generalised resistance to thyroid hormone.
|
J Med Genet
|
1995
|
0.78
|
86
|
Isolation, characterization, and mapping of a zinc finger gene, ZFP95, containing both a SCAN box and an alternatively spliced KRAB A domain.
|
Genomics
|
1999
|
0.77
|
87
|
Autosomal dominant spondylarthropathy due to a type II procollagen gene (COL2A1) point mutation.
|
Hum Mutat
|
1994
|
0.77
|
88
|
Distribution of type I and type II collagen gene expression during the development of human long bones.
|
Bone
|
1990
|
0.77
|
89
|
A tumor chromosome rearrangement further defines the 11p13 Wilms tumor locus.
|
Genomics
|
1991
|
0.77
|
90
|
A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic father.
|
Am J Med Genet A
|
2007
|
0.77
|
91
|
Osteopathia striata with cranial sclerosis: variable expressivity in a four generation pedigree.
|
Am J Med Genet
|
1996
|
0.76
|
92
|
Ehlers-Danlos syndrome type VII: phenotype and genotype.
|
Arch Dermatol Res
|
1994
|
0.76
|
93
|
Partial trisomy 2q and familial translocation t(2;12)(q31;q24).
|
Hum Genet
|
1976
|
0.76
|
94
|
Microdissection and DOP-PCR-based reverse chromosome painting as a fast and reliable strategy in the analysis of various structural chromosome abnormalities.
|
Prenat Diagn
|
1996
|
0.76
|
95
|
Genomic structure and in vivo expression of the human organic anion transporter 1 (hOAT1) gene.
|
Biochem Biophys Res Commun
|
2000
|
0.75
|
96
|
[Ophthalmologic symptoms in trisomy 22 (author's transl)].
|
Klin Monbl Augenheilkd
|
1979
|
0.75
|
97
|
A new case of XX-male (XX/XXY mosaic).
|
Hum Genet
|
1977
|
0.75
|
98
|
Detection of hepatitis B virus DNA in the liver of children with chronic hepatitis B by in situ hybridization and its relation to other viral markers.
|
J Pediatr Gastroenterol Nutr
|
1992
|
0.75
|
99
|
Retraction.
|
Cancer Res
|
1999
|
0.75
|
100
|
[Familial pericentric inversion of the X chromosome [inv(X)(p11q28)]].
|
Ann Genet
|
1984
|
0.75
|
101
|
[Cytogenetic findings in Wilms' tumor].
|
Klin Padiatr
|
1989
|
0.75
|
102
|
Resistance to thyroid hormone in a family caused by a new point mutation L330S in the thyroid receptor (TR) beta gene.
|
Thyroid
|
1997
|
0.75
|
103
|
Prenatal identification of a heterozygous status in two fetuses at risk for glucose-galactose malabsorption.
|
Prenat Diagn
|
1996
|
0.75
|
104
|
Hepatitis B virus DNA in liver tissue of chronic HBsAg carriers in childhood and its relationship to other viral markers.
|
J Pediatr Gastroenterol Nutr
|
1992
|
0.75
|
105
|
Two different PAX3 gene mutations causing Waardenburg syndrome type I.
|
Mol Cell Probes
|
1996
|
0.75
|
106
|
[Hepatitis B virus DNA. Current diagnosis in children with chronic hepatitis B].
|
Monatsschr Kinderheilkd
|
1991
|
0.75
|
107
|
[Hepatitis B virus DNA. Detection with polymerase chain reaction in liver tissue of children with chronic hepatitis B].
|
Monatsschr Kinderheilkd
|
1992
|
0.75
|
108
|
[Klinefelter syndrome - an unusual occurrence. Observations on 59 patients].
|
Med Welt
|
1981
|
0.75
|
109
|
Characterization of two 11q23.3-11q24 deletions and mapping of associated anonymous DNA markers.
|
Genes Chromosomes Cancer
|
1993
|
0.75
|
110
|
[Lung diseases - pulmonary hypertension].
|
Internist (Berl)
|
2009
|
0.75
|
111
|
Molecular hybridization techniques in current diagnosis of chronic hepatitis B in childhood.
|
Eur J Pediatr
|
1992
|
0.75
|
112
|
Assignment of the human diacylglycerol kinase 4 (DAGK4) gene to chromosome 4p16.3.
|
Genomics
|
1996
|
0.75
|
113
|
[Skeletal dysplasias. The network SKELNET].
|
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz
|
2007
|
0.75
|
114
|
[Simultaneous double fluorescence flow cytometry of lysed whole blood for prenatal diagnosis of combined immunodeficiency].
|
Monatsschr Kinderheilkd
|
1989
|
0.75
|
115
|
[Clinical importance of hepatitis B virus DNA detection in serum of children with chronic hepatitis B].
|
Klin Padiatr
|
1992
|
0.75
|
116
|
A NOVEL MUTATION ASSOCIATED WITH NEPHROLITIHASIS IN ELLIS-VAN CREVELD SYNDROME.
|
Genet Couns
|
2015
|
0.75
|
117
|
Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia.
|
Clin Genet
|
2014
|
0.75
|
118
|
[Improvement in the longitudinal growth in Ullrich-Turner syndrome with oxandrolone. Function of urinary excretion of steroid hormones].
|
Dtsch Med Wochenschr
|
1982
|
0.75
|