Karl‐heinz Grzeschik

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Karl‐heinz Grzeschik

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#2233

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Karl‐heinz Grzeschik's Published Works

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Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

The precursor of Alzheimer's disease amyloid A4 protein resembles a cell-surface receptor (1987) (3948)
The skeletal muscle chloride channel in dominant and recessive human myotonia. (1992) (689)
The precursor of Alzheimer??s disease amyloid A4 protein resembles a cell-surface receptor (1987) (642)
GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families (1991) (551)
Hepatitis B virus DNA integration in a sequence homologous to v-erb-A and steroid receptor genes in a hepatocellular carcinoma (1986) (385)
Chromosome localization in normal human cells and neuroblastomas of a gene related to c-myc (1984) (311)
Differential expression of myogenic determination genes in muscle cells: possible autoactivation by the Myf gene products. (1989) (307)
Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia (2007) (270)
Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. (2000) (264)
Human Chromosome 7: DNA Sequence and Biology (2003) (208)
Cloning of cDNA encoding steroid 11 beta-hydroxylase (P450c11). (1987) (179)
Point mutations in human GLI3 cause Greig syndrome. (1997) (178)
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations. (1999) (174)
Mutation in GLI3 in postaxial polydactyly type A (1997) (173)
THIK-1 and THIK-2, a Novel Subfamily of Tandem Pore Domain K+ Channels* 210 (2001) (171)
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2 (2003) (169)
Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. International Collaborative Study Group for Bartter-like Syndromes. (1997) (156)
Simple repeat sequences on the human Y chromosome are equally polymorphic as their autosomal counterparts (1992) (148)
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. (1999) (142)
Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus). (1984) (138)
Localization of the human beta-catenin gene (CTNNB1) to 3p21: a region implicated in tumor development. (1994) (136)
Expression Pattern in Brain of TASK-1, TASK-3, and a Tandem Pore Domain K+ Channel Subunit, TASK-5, Associated with the Central Auditory Nervous System (2001) (128)
IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response. (2009) (123)
Serotonin transporter gene-linked polymorphic region: allele distributions in relationship to body weight and in anorexia nervosa. (1997) (121)
Molecular Characterization of Human Zyxin* (1996) (118)
The human lysozyme gene. Sequence organization and chromosomal localization. (1989) (116)
Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome (2002) (91)
Six genes of the human connexin gene family coding for gap junctional proteins are assigned to four different human chromosomes. (1990) (87)
Cytovillin, a microvillar Mr 75,000 protein. cDNA sequence, prokaryotic expression, and chromosomal localization. (1989) (86)
Expression of an X-linked gene from an inactive human X chromosome in mouse-human hybrid cells: further evidence for the noninactivation of the steroid sulfatase locus in man. (1980) (84)
The LGI1 gene involved in lateral temporal lobe epilepsy belongs to a new subfamily of leucine‐rich repeat proteins (2002) (82)
β3-adrenergic-receptor allele distributions in children, adolescents and young adults with obesity, underweight or anorexia nervosa (1997) (81)
Mutational spectrum of NSDHL in CHILD syndrome (2005) (80)
Multiple Familial Trichoepithelioma Caused by Mutations in the Cylindromatosis Tumor Suppressor Gene (2004) (77)
The gene for SP-40,40, human homolog of rat sulfated glycoprotein 2, rat clusterin, and rat testosterone-repressed prostate message 2, maps to chromosome 8. (1991) (77)
PORCN mutations in focal dermal hypoplasia: coping with lethality (2009) (76)
Report of the Committee on the Genetic Constitution of Chromosomes 10, 11, and 12. (1985) (74)
Human CC10, the homologue of rabbit uteroglobin: genomic cloning, chromosomal localization and expression in endometrial cell lines. (1992) (72)
All known human H1 histone genes except the H1(0) gene are clustered on chromosome 6. (1993) (69)
Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome. (1997) (69)
Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt) (2004) (68)
Cloning of a cDNA encoding the human cation-dependent mannose 6-phosphate-specific receptor. (1987) (67)
Human ornithine decarboxylase sequences map to chromosome regions 2pter----p23 and 7cen----qter but are not coamplified with the NMYC oncogene. (1986) (64)
Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2 (2010) (63)
Synpolydactyly: clinical and molecular advances (2007) (61)
Cytological mapping of human X-linked genes by use of somatic cell hybrids involving an X-autosome translocation (mouse-hamster-human X-linked markers). (1972) (59)
A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement. (2002) (59)
CHILD syndrome in 3 generations: the importance of mild or minimal skin lesions. (2006) (56)
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. (2010) (53)
Human GLI3 Intragenic Conserved Non-Coding Sequences Are Tissue-Specific Enhancers (2007) (51)
Dispersed human immunoglobulin κ light-chain genes (1986) (51)
Variable phenotype in Greig cephalopolysyndactyly syndrome: Clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations (2003) (51)
Identification of optimized target sequences for the GLI3 zinc finger protein. (1995) (51)
Rearrangement of a common cellular DNA domain on chromosome 4 in human primary liver tumors (1988) (50)
A variant allele of Growth Factor Independence 1 (GFI1) is associated with acute myeloid leukemia. (2007) (48)
Primary gene structure and expression studies of rodent paracellin-1. (2001) (47)
Evaluation of a Cys23Ser mutation within the human 5-HT2C receptor gene: no evidence for an association of the mutant allele with obesity or underweight in children, adolescents and young adults. (1997) (47)
Nucleotide sequence of the gene for human transition protein 1 and its chromosomal localization on chromosome 2. (1990) (47)
PCR mediated detection of a new human receptor-tyrosine-kinase, HEK 2. (1993) (46)
A long-range restriction map of the human chromosome 19q13 region: close physical linkage between CKMM and the ERCC1 and ERCC2 genes. (1990) (45)
Lisch corneal dystrophy is genetically distinct from Meesmann corneal dystrophy and maps to xp22.3. (2000) (44)
The molecular genetic approach to ”Bartter’s syndrome” (1998) (44)
Assignment of two human cell cycle genes, CDC25C and CCNB1, to 5q31 and 5q12, respectively. (1992) (43)
X-linkage of human phosphoglycerate kinase confirmed in man-mouse and man-Chinese hamster somatic cell hybrids. (1971) (42)
The cellular homologue of the transforming gene of SKV avian retrovirus maps to human chromosome region 1q22----q24. (1986) (41)
Ultraconserved non‐coding sequence element controls a subset of spatiotemporal GLI3 expression (2007) (40)
Dissecting (CAC)5/(GTG)5 multilocus fingerprints from man into individual locus-specific, hypervariable components. (1992) (40)
Organization and chromosomal localization of the gene for the human bombesin receptor subtype expressed in pregnant uterus (1994) (39)
Human intronic enhancers control distinct sub-domains of Gli3 expression during mouse CNS and limb development (2010) (38)
The human hepatocyte nuclear factor 3/fork head gene FKHL13: genomic structure and pattern of expression. (1997) (38)
X-Linkage of Human α-Galactosidase (1972) (36)
Involvement of GTA protein NC2beta in Neuroblastoma pathogenesis suggests that it physiologically participates in the regulation of cell proliferation (2008) (36)
Regional localization of 725 human chromosome 7-specific yeast artificial chromosome clones. (1994) (35)
An insight into the phylogenetic history of HOX linked gene families in vertebrates (2007) (35)
Genotype–Phenotype Correlations Emerging from the Identification of Missense Mutations in MBTPS2 (2013) (34)
Spectrum of the acrocallosal syndrome. (2002) (33)
Further support for linkage of extreme obesity to the obese gene in a study group of obese children and adolescents. (2009) (33)
The human transmembrane secretory component (poly-Ig receptor): molecular cloning, restriction fragment length polymorphism and chromosomal sublocalization (1991) (32)
Chromosome assignment of genes encoding the alpha and beta subunits of glycoprotein hormones in man and mouse. (1983) (32)
Mapping of DNA markers linked to the cystic fibrosis locus on the long arm of chromosome 7. (1987) (32)
The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome (2002) (31)
Human limb malformations; an approach to the molecular basis of development. (2002) (30)
Human gap junction protein connexin31: molecular cloning and expression analysis. (1998) (30)
The structural gene for transferrin (TF) maps to 3q21----3qter. (1984) (28)
Regional localization of two human cellular Kirsten ras genes on chromosomes 6 and 12 (1984) (28)
CHILD Syndrome Caused by a Deletion of Exons 6–8 of the NSDHL Gene (2005) (28)
Further evidence for the dispersion of the human fibrillar collagen genes. (1986) (28)
Alkali myosin light chains in man are encoded by a multigene family that includes the adult skeletal muscle, the embryonic or atrial, and nonsarcomeric isoforms. (1988) (28)
Point Mutations in GLI3 Lead to Misregulation of its Subcellular Localization (2009) (28)
Transmission disequilibrium and sequence variants at the leptin receptor gene in extremely obese German children and adolescents (1998) (27)
Regional assignment of human protooncogenec-myb to 6q21→qter (1984) (26)
Assignment of the gene coding for human catalase to the short arm of chromosome 11. (1980) (26)
Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type. (2014) (25)
An Xp11.23 deletion containing PORCN may also cause angioma serpiginosum, a cosmetic skin disease associated with extreme skewing of X-inactivation (2008) (25)
Assignment of the genes for human glyoxalase I to chromosome 6 and for human esterase D to chromosome 13. (1976) (25)
Tandem pore domain K(+)-channel TASK-3 (KCNK9) and idiopathic absence epilepsies. (2002) (24)
Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis. (2008) (24)
A novel type of autosomal recessive syndactyly: Clinical and molecular studies in a family of Pakistani origin (2004) (24)
Abstracts of workshop presentations (Part 13 of 13) (1985) (23)
Genetic heterogeneity of synpolydactyly: a novel locus SPD3 maps to chromosome 14q11.2‐q12 (2006) (23)
Novel interaction partners of Bardet-Biedl syndrome proteins. (2008) (23)
A human autosomal phosphoglycerate kinase locus maps near the HLA cluster. (1984) (23)
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome. (2020) (22)
Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3 (2005) (22)
Report of the Committee on the Genetic Constitution of Chromosomes 10, 11, and 12. (1984) (22)
Evidence for clinical and genetic heterogeneity of syndactyly type I: the phenotype of second and third toe syndactyly maps to chromosome 3p21.31 (2005) (22)
Assignment of a structural gene forβ-glucuronidase to human chromosome C7 (1976) (22)
Partial gene structure and assignment to chromosome 2q37 of the human inwardly rectifying K+ channel (Kir7.1) gene (KCNJ13). (1998) (21)
Assignment of the human aminopeptidase N (peptidase E) gene to chromosome 15q13‐qter (1988) (21)
Genomics and transcription analysis of human TFIID (1998) (20)
Donor Dominance Cures CHILD Nevus (2010) (20)
Partial reactivation of a human inactive X chromosome in human-mouse somatic cell hybrids. (1978) (20)
Congenital, low penetrance lymphedema of lower limbs maps to chromosome 6q16.2–q22.1 in an inbred Pakistani family (2008) (20)
Evolution and Functional Diversification of the GLI Family of Transcription Factors in Vertebrates (2009) (20)
Selective Differential Display of RNAs containing interspersed repeats: analysis of changes in the transcription of HERV-K LTRs in germ cell tumors (2001) (20)
Syrian Hamster-human somatic cell hybrids: Isolation and characterization (1973) (19)
A somatic cell hybrid panel and DNA probes for physical mapping of human chromosome 7p. (1991) (19)
A simple method for characterising syndactyly in clinical practice. (2005) (19)
The human PGM-2 and its chromosomal localization in man-mouse hybrids (1977) (19)
Anhidrotic ectodermal dysplasia gene region cloned in yeast artificial chromosomes. (1993) (19)
Clinical variation in X‐linked dominant chondrodysplasia punctata (X‐linked dominant ichthyosis) (2006) (19)
Human Sp3 transcriptional regulator gene (SP3) maps to chromosome 2q31. (1996) (19)
Report and abstracts of the First International Workshop on Human Chromosome 7 Mapping 1993. (1994) (19)
Standardization in human cytogenetics (1975) (19)
Regional submapping of human chromosome 6 by the use of human-mouse somatic cell hybrids. (1978) (19)
Positioning of 72 potentially full size LTRs of human endogenous retroviruses HERV-K on the human chromosome 19 map. Occurrences of the LTRs in human gene sites. (1997) (19)
Localization of the catalytic subunit C gamma of the cAMP-dependent protein kinase gene (PRKACG) to human chromosome region 9q13. (1992) (19)
Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome Due to Mutation of the Gene MBTPS2 in a Large Australian Kindred (2009) (19)
High-resolution genomic mapping of the three human replication protein A genes (RPA1, RPA2, and RPA3). (1994) (18)
Cloning, structure and assignment to Chromosome 19q13 of the human Kir2.4 inwardly rectifying potassium channel gene (KCNJ14) (2000) (18)
Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences (2007) (18)
Assignment of human genes: beta-glucuronidase to chromosome 7, adenylate kinase-1 to 9, a second enzyme with enolase activity to 12, and mitochondrial IDH to 15. (1976) (17)
Behold the CHILD, it's only one: CHILD syndrome is not caused by deficiency of 3?-hydroxysteroid-?8, ?7-isomerase (2000) (17)
Significant association between a silent polymorphism in the neuromedin B gene and body weight in German children and adolescents (2000) (17)
Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome (2011) (17)
Assignment of a gene for arylsulfatase B to human chromosome 5 using human-mouse somatic cell hybrids. (1978) (17)
Isolation of a yeast artificial chromosome contig spanning the Greig cephalopolysyndactyly syndrome (GCPS) gene region. (1994) (16)
Report of the second international workshop on human chromosome 7 mapping 1994. (1995) (16)
Actin‐like sequences are present on human X and Y chromosomes. (1984) (16)
The genes for the highly homologous Ca(2+)-binding proteins oncomodulin and parvalbumin are not linked in the human genome. (1992) (16)
Isolation and characterisation of a cDNA clone for human apolipoprotein CI and assignment of the gene to chromosome 19 (2004) (16)
A member of the mouse LRR transcript family with homology to the human Sp100 gene. (2004) (16)
The Kidd (JK) blood group locus assigned to chromosome 18 by close linkage to a DNA-RFLP (1987) (16)
Assignment of the gene for human glucose dehydrogenase (E.C. 1.1.1.47) to chromosome 1 using somatic cell hybrids. (1978) (15)
Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual. (2000) (15)
Genomic structure and chromosome mapping of human and mouse RAMP genes (2000) (15)
Progress towards cloning the cystic fibrosis gene. (1988) (15)
Localization, analysis and evolution of transposed human immunoglobulin Vκ genes (1988) (14)
Laser Microdissection in the Search for the Molecular Basis of Diseases A Molecular Library from a Human Chromosome Segment (1989) (14)
Physical mapping at 6q27 of the locus for the TATA box-binding protein, the DNA-binding subunit of TFIID and a component of SL1 and TFIIIB, strongly suggests that it is single copy in the human genome. (1994) (14)
Regional localization of loci on chromosome 14 using somatic cell hybrids. (1994) (14)
A large duplication involving the IHH locus mimics acrocallosal syndrome (2012) (14)
Human interleukin 2 gene is located on chromosome 4. (1984) (13)
Chromosomal localization to 3q21----qter and two TaqI RFLPs of the human prostate-specific acid phosphatase gene (ACPP). (1989) (13)
Two nonallelic tRNAiMet genes are located in the p23 leads to q12 region of human chromosome 6. (1983) (13)
Gitelman’s syndrome is genetically distinct from other forms of Bartter’s syndrome (1996) (13)
A NONSENSE PORCN MUTATION IN SEVERE FOCAL DERMAL HYPOPLASIA WITH NATAL TEETH (2010) (13)
The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly (2007) (13)
Abstracts of workshop presentations (Part 1 of 13) (1985) (13)
The gene for 17beta-hydroxysteroid dehydrogenase maps to human chromosome 17, bands q12–q21, and shows an RFLP with ScaI (1990) (13)
A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia. (2012) (12)
Different patterns of X chromosome inactivity in lymphocytes and fibroblasts of a human balanced X; autosome translocation (2004) (12)
Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome. (2003) (12)
Characterization of a set of X-linked sequences and of a panel of somatic cell hybrids useful for the regional mapping of the human X chromosome (2004) (12)
Isolation and regional localization of a large collection (2,000) of single-copy DNA fragments on human chromosome 3 for mapping and cloning tumor suppressor genes (1991) (12)
Possible assignment of the glyoxalase I (GLO) gene to chromosome 6 using man-mouse somatic cell hybrids (1976) (12)
Two mosaic cases with nonfluorescent Y chromosome analysed with Y-specific DNA probes. (1988) (11)
Localization of MPI, PKM2, IDHM, and the α subunit of hexosaminidase (HEXA) to the q21→qter region of human chromosome 15 (1978) (10)
Abstracts of workshop presentations (Part 9 of 13) (1985) (10)
Behold the CHILD, it's only one: CHILD syndrome is not caused by deficiency of 3 beta-hydroxysteroid-Delta 8, Delta 7-isomerase. (2000) (10)
Platelet-derived growth factor A chain: confirmation of localization of PDGFA to chromosome 7p22 and description of an unusual minisatellite. (1992) (10)
Cis‐regulatory underpinnings of human GLI3 expression in embryonic craniofacial structures and internal organs (2013) (10)
Abstracts of meeting presentations (Part 11 of 11) (1984) (10)
Genetics of human S-adenosylhomocysteine hydrolase. A new polymorphism in man (2004) (10)
Identification of human RNA transcripts among heterogeneous nuclear RNA from man-mouse somatic cell hybrids. (1975) (10)
Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata. (2007) (9)
The neurobeachin gene (Nbea) identifies a new region of homology between mouse central Chromosome 3 and human Chromosome 13q13 (1999) (9)
Assignment of the genes for human glyoxalase I to chromosome 6 and for human esterase D to chromosome 13. (1976) (9)
Utilization of somatic cell hybrids for genetic studies in man (2004) (9)
Chromosomal localization of the interferon-inducible human gene encoding mRNA 561. (1987) (9)
Abstracts of workshop presentations (Part 12 of 13) (1985) (9)
Regional mapping of human chromosome 3. Assignment of a glutathione peroxidase-1 gene to 3p13→3q12 (1981) (9)
Genetic characterization of general transcription factors TFIIF and TFIIB of Homo sapiens sapiens. (1995) (9)
Systematic screening for mutations in the human necdin gene (NDN): identification of two naturally occurring polymorphisms and association analysis in body weight regulation (2001) (9)
X Linkage of Human Galactosidase (1972) (8)
Gene symbol: GLI3. Disease: Pallister-Hall syndrome. (2004) (8)
A Novel X‐Chromosomal Microdeletion Encompassing Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (2013) (8)
Human Sp4 transcription factor gene (SP4) maps to chromosome 7p15. (1995) (8)
Assignment of the human RT6 gene to 11q13 by PCR screening of somatic cell hybrids and in situ hybridization. (1993) (8)
Identification of a de novo chromosome rearrangement in a man-mouse hybrid clone and its bearing on the cytological map of the human X chromosome. (1976) (8)
Regional assignment of the gene for human beta-glucuronidase by the use of human-mouse cell hybrids. (1978) (8)
Prothymosin α gene in humans: organization of its promoter region and localization to chromosome 2 (2004) (8)
Genes for human general transcription initiation factors TFIIIB, TFIIIB-associated proteins, TFIIIC2 and PTF/SNAPC: functional and positional candidates for tumour predisposition or inherited genetic diseases? (2001) (8)
Assignment of a gene for human mitochondrial isocitrate dehydrogenase (ICD-M, EC 1. 1. 1. 41) to chromosome 15 (1976) (8)
The gene for the alpha polypeptide of pyruvate dehydrogenase is X-linked in humans. (1990) (8)
Regional localization of the gene encoding pregnancy specific beta-1-glycoprotein 1 (PSBG1) to human chromosome 19q13.1. (1989) (8)
European Gene Mapping Project (EUROGEM): Breakpoint panels for human chromosomes based on the CEPH reference families (1996) (7)
Assignment of the gene encoding the catalytic subunit Cβ of CAMP-dependent protein kinase to the p36 band on chromosome (1992) (7)
Assignment of adenosine deaminase complexing protein (ADCP) gene(s) to human chromosome 2 in rodent-human somatic cell hybrids (2004) (7)
Assignment of human genes: beta-glucuronidase to chromosome 7, adenylate kinase-1 to 9, a second enzyme with enolase activity to 12, and mitochondrial IDH to 15. (1976) (7)
Evidence for human DNA-mediated transfer of the suppressed phenotype into malignant Chinese hamster cells. (1991) (7)
Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature (2017) (7)
Gene symbol: GLI3. Disease: Pallister-Hall syndrome. (2003) (7)
Assignment of a structural gene for a fourth human diaphorase (DIA4) to chromosome 16 in man-mouse somatic cell hybrids (1980) (7)
NSDHL-Related Disorders (2015) (7)
The isolation of genomic recombinants for the human apolipoprotein B gene and the mapping of three common DNA polymorphisms of the gene —a useful marker for human chromosome 2 (1986) (7)
Electrophoretic characterization and genetics of human biliverdin reductase (BLVR; EC 1.3.1.24); assignment of BLVR to the p14 → cen region of human chromosome 7 in mouse-human somatic cell hybrids (2004) (6)
Identification of paralogous HERV-K LTRs on human chromosomes 3, 4, 7 and 11 in regions containing clusters of olfactory receptor genes (2001) (6)
Abstracts of meeting presentations (Part 2 of 11) (1982) (6)
Regional mapping of human chromosome 10: Assignment of the gene for cytoplasmic glutamate-oxaloacetate transaminase to 10q24 » qter (1976) (5)
Prothymosin α gene in humans: organization of its promoter region and localization to chromosome 2 (1993) (5)
The novel human HNF-3/fork head-like 5 gene: chromosomal localization and expression pattern. (1997) (5)
Abstracts of meeting presentations (Part 10 of 11) (1984) (5)
Electrophoretic characterization and genetics of human biliverdin reductase (BLVR; EC 1.3.1.24); assignment of BLVR to the p14 → cen region of human chromosome 7 in mouse-human somatic cell hybrids (1983) (5)
Report of the committee on the genetic constitution of chromosome 20 (1990) (5)
Microdissection and microcloning of the long arm of human chromosome 7 (2004) (5)
Involvement of GTA protein NC2β in Neuroblastoma pathogenesis suggests that it physiologically participates in the regulation of cell proliferation (2008) (5)
Organization and sequence of the gene encoding the human acrosin-trypsin inhibitor (HUSI-II). (1993) (5)
New Syndrome of Congenital Circumferential Skin Folds Associated with Multiple Congenital Anomalies (2012) (5)
Dispersed human immunoglobulin kappa light-chain genes. (1986) (5)
Left-sided CHILD syndrome caused by a nonsense mutation in exon 7 of the NSDHL gene. (2010) (5)
Report of the committee on the genetic constitution of chromosome 20. (1990) (5)
Abstracts of meeting presentations (Part 8 of 11) (1984) (5)
Localization of GOTs to the q24→qter region of human chromosome 10 (1976) (4)
Genomics, evolution, and expression of TBPL2, a member of the TBP family. (2007) (4)
Regional assignment of 30 expressed sequence tags on human chromosome 7 using a somatic cell hybrid panel. (1995) (4)
Genomic localization of the human genes TAF1A, TAF1B and TAF1C, encoding TAFI48, TAFI63 and TAFI110 subunits of class I general transcription initiation factor SL1 (2000) (4)
Isolation and characterization of a cosmid contig for the GCPS gene region (2004) (4)
Focal dermal hypoplasia (goltz–gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly (2013) (4)
An arrayed library enriched in hncDNA corresponding to transcribed sequences of human chromosome 19: preparation and analysis. (1995) (4)
The potassium channel gene HK1 maps to human chromosome 11p14.1, close to the FSHB gene (1992) (3)
Abstracts of workshop presentations (Part 11 of 13) (1985) (3)
Characterization and regional mapping of new anonymous chromosome 20-specific DNA markers isolated from a flow-sorted DNA library. (1991) (3)
Localization of the human genes encoding the two subunits of general transcription factor TFIIE. (1994) (3)
The breakpoint on 7p in a patient with t(6;7) and craniosynostosis is spanned by a YAC clone containing the D7S503 locus (1995) (3)
Mapping of transcribed sequences on human chromosome 19. (1995) (3)
PORCN mutations in focal dermal hypoplasia: coping with lethality (2009) (3)
Assignment of the gene for human spasmolytic protein (hSP/SML1) to chromosome 21 (1992) (3)
The structural gene for the mitochondrial aldehyde dehydrogenase maps to human chromosome 12 (1986) (3)
The proα2 (V) collagen gene (COL5A2) maps to 2q14→2q32, syntenic to the proα1 (III) collagen locus (COL3A1) (1986) (3)
Abstracts of workshop presentations (Part 4 of 13) (1985) (2)
January 2003 (2002) (2)
Expression of aromatic polycyclic hydrocarbon-induced monooxygenase (aryl hydrocarbon hydroxylase) in man x mouse hybrids is associated with human chromosome 2 (2004) (2)
Confirmation of the localization of the human recombination activating gene 1 (RAG1) to chromosome 11p13 (1994) (2)
articleHuman intronic enhancers control distinct subdomains of Gli 3 expression during mouse CNS and limb development (2010) (2)
Genomic localization of the human gene encoding Dr1, a negative modulator of transcription of class II and class III genes. (1996) (2)
Regional mapping of human chromosome 3. Assignment of a glutathione peroxidase-1 gene to 3p13 leads to 3q12. (1981) (2)
Elimination of mycoplasma contamination from mammalian cell cultures by the bibenzimidazole derivative Hoechst 33258. (1983) (2)
The pro alpha 2(V) collagen gene (COL5A2) maps to 2q14----2q32, syntenic to the pro alpha 1 (III) collagen locus (COL3A1). (1986) (2)
Localization, analysis and evolution of transposed human immunoglobulin V kappa genes. (1988) (2)
Abstracts of workshop presentations (Part 6 of 13) (1985) (1)
Abstracts of workshop presentations (Part 7 of 13) (1985) (1)
Abstracts of workshop presentations (Part 2 of 13) (1985) (1)
Abstracts of meeting presentations (Part 9 of 11) (1984) (1)
Functional implications of GLI3 mutations detected in human polydactylies GLI3 (2000) (1)
Prothymosin alpha gene in humans (1993) (1)
Abstracts of meeting presentations (Part 6 of 11) (1984) (1)
Human Genetic Mutant Cell Repository Index / Book Review Index, Vol. 15, 1975 (1975) (1)
Mild phenotypic expression of CHILD syndrome in two generations (2009) (1)
Abstracts of workshop presentations (Part 5 of 13) (1985) (1)
Contents Vol. 55, 1990 (1990) (1)
Regional assignment of 41 human DNA fragments on chromosome 7 by means of a somatic cell hybrid panel (2004) (1)
Mapping of the human spermidine synthase gene (SRM) to 1p36 and a probable pseudogene (SRML2) to region 3p14-->q21. (1993) (1)
The role of somatic cell genetics in human gene mapping (1986) (1)
Genetics of Williams-Beuren syndrome (2004) (1)
Localization of GOTs to the q24 leads to qter region of human chromosome 10. (1976) (0)
MappingofDNA MarkersLinkedtotheCystic Fibrosis LocusontheLongArmofChromosome7 (1987) (0)
Greig syndrome: Analysis of the GL13 gene (1994) (0)
Regional mapping of human chromosome 10: assignment of the gene for cytoplasmic glutamate-oxaloacetate transaminase to 10q24 leads to qter. (1976) (0)
Subject Index Vol. 14, 1975 (1975) (0)
Acromelia‐oligodontia syndrome (2017) (0)
Subject Index Vol. 22, 1978 (1978) (0)
Figure 2. [An 11-year-old (A, B) and...]. (2015) (0)
Subject Index Vol. 15, 1975 (1975) (0)
Humanlysosomal acidphosphatase: cloning, expression andchromosomal assignment (1988) (0)
Subject index Vol. 40, 1985 (1985) (0)
Contents, Vol. 37, 1984 (1984) (0)
Figure 1. [Photographs of a female with...]. (2015) (0)
The molecular map of the human genome as a basis for the study of ethnic differences in reactions to xenobiotics. (1986) (0)
Abstracts of meeting presentations (Part 4 of 11) (1979) (0)
Table 3. [Selected NSDHL Pathogenic Variants]. (2015) (0)
Cloning and characterization of 2 human voltage gated potassium channels expressed in heart or in skeletal muscle. (1993) (0)
Human Genetic Mutant Cell Repository Index / Book Review Index, Vol. 14, 1975 (1975) (0)
13-P048 Expression patterning in CNS and limb from fish to mammals by GLI3-intronic enhancers (2009) (0)
Localization of GOTs to the q24 leads to qter region of human chromosome 10. (1976) (0)
Subject Index Vol. 16, 1976 (1976) (0)
Newsletter No. 13/2010 (2010) (0)
with acute myeloid leukemia ) is associated GFI1 ( Growth Factor Independence 1 A variant allele of (2010) (0)
Abstracts of workshop presentations (Part 8 of 13) (1985) (0)
Greig Cephalopolysyndactyly Syndrome and Limb Disorders (1998) (0)
Regional mapping of human chromosomes 1 and 11. (1975) (0)
Addendum to Abstracts of the12th European Colloquium on Cytogenetics of Domestic Animals (1996) (0)
Abstracts of meeting presentations (Part 1 of 11) (1982) (0)
Organization and sequence ofthe gene encoding the human acrosin trypsin inhibitor (HUSI-II)* (Kazal-type inhibitor; acrosin inhibitor; exon-intron mapping; nucleotide sequence analysis; transcription start point; chromosomallocalization; glycoprotein hormones; chorionic gonadotropin) (1993) (0)
Localization of MPI, PKM2, IDHM, and the alpha subunit of hexosaminidase (HEXA) to the q21 leads to qter region of human chromosome 15. (1978) (0)
References to the committee reports (1975) (0)
Abstracts of meeting presentations (Part 7 of 11) (1984) (0)
6.1. DNA-polymorphism (1983) (0)
Multiple Basal Cell Carcinomas in a 38-Year-Old Woman with Goltz Syndrome (2012) (0)
TheGenefortheAlphaPolypeptide ofPyruvate Dehydrogenase isX-Iinked inHumans (1990) (0)
Abstracts of workshop presentations (Part 10 of 13) (1985) (0)
Cloning of a cDNA encoding the human cation-dependent mannose 6-phosphate-specific receptor ( lysosomal enzyme transport / transmembrane protein / chromosomal assignment ) (0)
Subject Index Vol. 220, 2010 (2010) (0)
The 36th American Cytogenetics Conference (2000) (0)
Six new polymorphic microsatellite markers used for the integration of genetic and physical maps of human chromosome 7 (1996) (0)
Contents, Vol. 15, 1975 (1975) (0)
Table 1. [Summary of Molecular Genetic Testing Used in NSDHL-Related Disorders]. (2015) (0)

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