Karl‐heinz Grzeschik
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Why Is Karl‐heinz Grzeschik Influential?
(Suggest an Edit or Addition)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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