B Zabel

Author PubWeight™ 118.27‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
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