Bernhard Horsthemke
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Bernhard Horsthemke's Degrees
- PhD Biology University of Cologne
- Masters Biology University of Cologne
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(Suggest an Edit or Addition)Bernhard Horsthemke'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
- Association of a human G-protein β3 subunit variant with hypertension (1998) (791)
- Intracytoplasmic sperm injection may increase the risk of imprinting defects. (2002) (722)
- Prognostic implications of monosomy 3 in uveal melanoma (1996) (702)
- Inherited microdeletions in the Angelman and Prader–Willi syndromes define an imprinting centre on human chromosome 15 (1995) (600)
- Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization. (2000) (585)
- Epigenetic changes may contribute to the formation and spontaneous regression of retinoblastoma (1989) (479)
- Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24 (2009) (430)
- Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3 (2013) (413)
- Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1) (1995) (412)
- A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism (1993) (393)
- The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A. (2001) (369)
- Imprinting in Prader-Willi and Angelman syndromes. (1998) (368)
- The International Human Epigenome Consortium: A Blueprint for Scientific Collaboration and Discovery (2016) (360)
- Worldwide ethnic distribution of the G protein beta3 subunit 825T allele and its association with obesity in Caucasian, Chinese, and Black African individuals. (1999) (360)
- Cloning defined regions of the human genome by microdissection of banded chromosomes and enzymatic amplification (1989) (330)
- Tumor classification based on gene expression profiling shows that uveal melanomas with and without monosomy 3 represent two distinct entities. (2003) (325)
- Increased prevalence of imprinting defects in patients with Angelman syndrome born to subfertile couples (2005) (301)
- Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect. (2003) (299)
- Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I (2000) (286)
- Failure of familial Alzheimer's disease to segregate with the A4-amyloid gene in several European families (1987) (274)
- Mechanisms of imprinting of the Prader–Willi/Angelman region (2008) (271)
- Imprinting-mutation mechanisms in Prader-Willi syndrome. (1999) (262)
- Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene (1996) (249)
- Angelman syndrome — insights into a rare neurogenetic disorder (2016) (233)
- Assisted reproduction: the epigenetic perspective. (2005) (225)
- Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. (1994) (223)
- Idiopathic male infertility is strongly associated with aberrant methylation of MEST and IGF2/H19 ICR1. (2009) (217)
- Maternal methylation imprints on human chromosome 15 are established during or after fertilization (2001) (211)
- Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. (2001) (206)
- A critical view on transgenerational epigenetic inheritance in humans (2018) (187)
- Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations. (1996) (183)
- Chromosomal gains and losses in uveal melanomas detected by comparative genomic hybridization. (1994) (172)
- The spectrum of RB1 germ-line mutations in hereditary retinoblastoma. (1996) (171)
- A Single-Tube PCR Test for the Diagnosis of Angelman and Prader-Willi Syndrome Based on Allelic Methylation Differences at the SNRPN Locus (1997) (164)
- Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method. (1997) (158)
- An Alu Element–Associated Hypermethylation Variant of the POMC Gene Is Associated with Childhood Obesity (2012) (158)
- Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. (1998) (150)
- The obesity-associated SNPs in intron 1 of the FTO gene affect primary transcript levels (2010) (145)
- Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma. (1997) (137)
- Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients. (1993) (136)
- Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans (2015) (135)
- The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities. (1999) (133)
- Frequency and parental origin of hypermethylated RB1 alleles in retinoblastoma (1994) (129)
- Imprinting defects on human chromosome 15 (2006) (120)
- Leveraging Cross-Species Transcription Factor Binding Site Patterns: From Diabetes Risk Loci to Disease Mechanisms (2014) (120)
- The Human Retinoblastoma Gene Is Imprinted (2009) (119)
- A study of DNA polymorphisms around the human apolipoprotein Al gene in hyperlipidaemic and normal individuals (1985) (115)
- Identification of chromosomes 3, 6, and 8 aberrations in uveal melanoma by microsatellite analysis in comparison to comparative genomic hybridization. (2000) (111)
- N6-Adenosine Methylation in MiRNAs (2015) (110)
- Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis. (1992) (108)
- A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome (2009) (108)
- Epimutations in human disease. (2006) (106)
- Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation. (1997) (104)
- Partial deletions of the long and short arm of chromosome 3 point to two tumor suppressor genes in uveal melanoma. (2001) (101)
- DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome. (1995) (100)
- Genetic determination of human facial morphology: links between cleft-lips and normal variation (2011) (100)
- Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11–13) by YAC cloning and FISH analysis (1992) (99)
- A COMMON DNA POLYMORPHISM OF THE LOW-DENSITY LIPOPROTEIN (LDL) RECEPTOR GENE AND ITS USE IN DIAGNOSIS (1985) (98)
- A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene. (1993) (97)
- Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome (1995) (93)
- Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome. (1996) (93)
- Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader–Willi syndrome (2005) (92)
- Syndrome identification based on 2D analysis software (2006) (88)
- A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect (1999) (88)
- Chromosomal aberrations defining uveal melanoma of poor prognosis (1992) (88)
- Computer-based recognition of dysmorphic faces (2003) (87)
- Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation. (1999) (87)
- De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch (2000) (87)
- The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites (2012) (86)
- Incorrect use of the term synteny (1999) (86)
- Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma (1994) (85)
- Evaluation of potential models for imprinted and nonimprinted components of human chromosome 15q11-q13 syndromes by fine-structure homology mapping in the mouse. (1993) (84)
- Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3 (2019) (84)
- Mechanisms of imprint dysregulation (2010) (84)
- Identification of deletions in the human low density lipoprotein receptor gene. (1987) (83)
- Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region. (1993) (81)
- Somatic mosaicism in patients with Angelman syndrome and an imprinting defect. (2004) (81)
- Disruption of the bipartite imprinting center in a family with Angelman syndrome. (2001) (77)
- Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13 (1992) (76)
- Marked differences in unilateral isolated retinoblastomas from young and older children studied by comparative genomic hybridization (2001) (73)
- A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15. (2001) (73)
- Genomic imprinting and imprinting defects in humans. (2008) (72)
- Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster (2008) (72)
- Nuclear interaction of the dynein light chain LC8a with the TRPS1 transcription factor suppresses the transcriptional repression activity of TRPS1. (2003) (71)
- Epigenetic dynamics of monocyte-to-macrophage differentiation (2016) (70)
- Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum. (2006) (69)
- The human protein kinase gene PKX1 on Xp22.3 displays Xp/Yp homology and is a site of chromosomal instability. (1995) (68)
- Loss of heterozygosity of 1p in uveal melanomas with monosomy 3 (2005) (66)
- Characterization of a nonchymotrypsin-like endopeptidase from anterior pituitary that hydrolyzes luteining hormone-releasing hormone at the tyrosyl-glycine and histidyl-tryptophan bonds. (1980) (65)
- Unequal crossing-over between two alu-repetitive DNA sequences in the low-density-lipoprotein-receptor gene. A possible mechanism for the defect in a patient with familial hypercholesterolaemia. (1987) (64)
- Microdissection of the Prader-Willi syndrome chromosome region and identification of potential gene sequences. (1990) (64)
- The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion. (1999) (63)
- Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome. (1997) (62)
- Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome. (1997) (61)
- Degradation of luteinizing hormone - releasing hormone and analogs by adenohypophyseal peptidases. (1981) (59)
- Genetics and cytogenetics of retinoblastoma. (1992) (58)
- SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome (2004) (57)
- Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal (2004) (56)
- Heterogeneous distribution of enkephalin-degrading peptidases between neuronal and glial cells. (1983) (55)
- Altered Development of NKT Cells, γδ T Cells, CD8 T Cells and NK Cells in a PLZF Deficient Patient (2011) (54)
- C15orf2 and a novel noncoding transcript from the Prader-Willi/Angelman syndrome region show monoallelic expression in fetal brain. (2007) (53)
- Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. (2014) (53)
- FTO levels affect RNA modification and the transcriptome (2012) (53)
- A human pseudoautosomal gene encodes the ANT3 ADP/ATP translocase and escapes X-inactivation. (1993) (52)
- Characterization of deletions at the retinoblastoma locus in patients with bilateral retinoblastoma. (1991) (52)
- Genomic organization and promoter structure of the human EXT1 gene. (1997) (51)
- A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes. (1992) (50)
- IGF2/H19 hypomethylation in Silver–Russell syndrome and isolated hemihypoplasia (2008) (50)
- Epigenetic germline mosaicism in infertile men. (2015) (50)
- Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasia (2008) (50)
- Human TRH-degrading ectoenzyme cDNA cloning, functional expression, genomic structure and chromosomal assignment. (1999) (49)
- Microdissection of banded human chromosomes (1990) (48)
- A variant allele of Growth Factor Independence 1 (GFI1) is associated with acute myeloid leukemia. (2007) (48)
- Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome (2007) (48)
- Low frequency of imprinting defects in ICSI children born small for gestational age (2009) (48)
- Light optical precision measurements of the active and inactive Prader-Willi syndrome imprinted regions in human cell nuclei. (2008) (47)
- Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications. (1994) (47)
- An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistance (2010) (47)
- The RING Finger Protein RNF4, a Co-regulator of Transcription, Interacts with the TRPS1 Transcription Factor* (2003) (47)
- Genetic Aspects of Familial Ménière's Disease (2011) (47)
- Genomic gains on chromosome 1q in retinoblastoma: Consequences on gene expression and association with clinical manifestation (2005) (47)
- A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus. (1997) (46)
- Imprinting in Prader–Willi and Angelman syndromes (2005) (46)
- Postovulatory aging affects dynamics of mRNA, expression and localization of maternal effect proteins, spindle integrity and pericentromeric proteins in mouse oocytes (2015) (46)
- In Brief: Genomic imprinting and imprinting diseases (2014) (44)
- Identification of a testis-specific gene (C15orf2) in the Prader-Willi syndrome region on chromosome 15. (2000) (43)
- Further patient with Angelman syndrome due to paternal disomy of chromosome 15 and a milder phenotype. (1995) (43)
- Imprinting mutations on human chromosome 15 (1997) (43)
- Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene. (1993) (43)
- Subcellular distribution of particle-bound neutral peptidases capable of hydrolyzing gonadoliberin, thyroliberin, enkephalin and substance P. (1984) (42)
- Automated syndrome detection in a set of clinical facial photographs (2011) (42)
- Identification of a silencing element in the human 15q11-q13 imprinting center by using transgenic Drosophila. (1998) (42)
- Heritable germline epimutations in humans (2007) (41)
- Massive parallel bisulfite sequencing of CG-rich DNA fragments reveals that methylation of many X-chromosomal CpG islands in female blood DNA is incomplete. (2009) (41)
- RB1 gene mutations in peripheral blood DNA of patients with isolated unilateral retinoblastoma. (1999) (41)
- Degradation of substance P by neurones and glial cells. (1984) (41)
- Identification of cis- and trans-acting factors possibly modifying the risk of epimutations on chromosome 15 (2006) (39)
- Parental-origin-determination fluorescence in situ hybridization distinguishes homologous human chromosomes on a single-cell level. (2008) (39)
- Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome. (1996) (39)
- Methylation analysis of the PWS/AS region does not support an enhancer-competition model (1998) (39)
- Somatic mosaicism in a patient with bilateral retinoblastoma. (1990) (38)
- Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: confirmation by cell cloning and identification of candidate downstream genes. (2003) (38)
- The syntenic relationship between the critical deletion region for the Prader-Willi/Angelman syndromes and proximal mouse chromosome 7. (1991) (37)
- Spectrum of small length germline mutations in the RB1 gene. (1994) (36)
- A DNA library from an individual Beta patellaris chromosome conferring nematode resistance obtained by microdissection of meiotic metaphase chromosomes (1992) (36)
- Expressed copies of the MN7 (D15F37) gene family map close to the common deletion breakpoints in the Prader-Willi/Angelman syndromes (1998) (35)
- Molecular characterization of radiation- and chemically induced mutations associated with neuromuscular tremors, runting, juvenile lethality, and sperm defects in jdf2 mice (1999) (35)
- Maintenance of imprinting and nuclear architecture in cycling cells (2007) (35)
- Imprinting centre deletions in two PWS families: implications for diagnostic testing and genetic counselling (2000) (35)
- Microdissection of the fragile X region. (1990) (35)
- EFS shows biallelic methylation in uveal melanoma with poor prognosis as well as tissue-specific methylation (2011) (34)
- New markers for the neurofibromatosis-2 region generated by microdissection of chromosome 22. (1991) (34)
- The origin of human chromosome 2 analyzed by comparative chromosome mapping with a DNA microlibrary (2005) (33)
- A NEW RESTRICTION FRAGMENT LENGTH POLYMORPHISM OF THE HUMAN TNF‐B GENE DETECTED BY Asp HI DIGEST (1992) (33)
- Mechanism of i(6p) formation in retinoblastoma tumor cells. (1989) (33)
- Rapid detection of trisomy 21 by quantitative PCR (1993) (33)
- Impact of geometry and viewing angle on classification accuracy of 2D based analysis of dysmorphic faces. (2008) (33)
- Possible involvement of the retinoblastoma gene in undifferentiated sinonasal carcinoma (1990) (32)
- Imprinting of RB1 (the new kid on the block). (2010) (31)
- Substrate specificity of an adenohypophyseal endopeptidase capable of hydrolyzing luteinizing hormone-releasing hormone: preferential cleavage of peptide bones involving the carboxyl terminus of hydrophobic and basic amino acids. (1982) (31)
- A PCR test for the detection of hypermethylated alleles at the retinoblastoma locus (1999) (31)
- Pre- and Postovulatory Aging of Murine Oocytes Affect the Transcript Level and Poly(A) Tail Length of Maternal Effect Genes (2014) (30)
- Amplikyzer: Automated methylation analysis of amplicons from bisulfite flowgram sequencing (2013) (30)
- Expression of SNURF–SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesis (2009) (30)
- New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome (2017) (30)
- A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp (1999) (28)
- Methylation Analysis of Several Tumour Suppressor Genes Shows a Low Frequency of Methylation of CDKN2A and RARB in Uveal Melanomas (2003) (28)
- Premature ovarian failure associated with a small terminal Xq deletion: narrowing the POF1 region down to Xq27.2/Xq27.3‐qter (2005) (28)
- Deep Bisulfite Sequencing of Aberrantly Methylated Loci in a Patient with Multiple Methylation Defects (2013) (28)
- Parental Diabetes: The Akita Mouse as a Model of the Effects of Maternal and Paternal Hyperglycemia in Wildtype Offspring (2012) (28)
- A familial disorder of altered DNA-methylation (2014) (27)
- EARLY DIAGNOSIS IN HEREDITARY RETINOBLASTOMA BY DETECTION OF MOLECULAR DELETIONS AT GENE LOCUS (1987) (26)
- Clinical utility gene card for: Angelman Syndrome (2014) (26)
- Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome (2016) (26)
- Bilateral retinoblastoma in a male patient with an X; 13 translocation: evidence for silencing of the RB1 gene by the spreading of X inactivation. (1997) (26)
- Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances. (2016) (25)
- A simple and nonradioactive method for detecting the Rb1.20 DNA polymorphism in the retinoblastoma gene. (1992) (25)
- The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated protein. (2012) (25)
- Twelve novel RB1 gene mutations in patients with hereditary retinoblastoma (1998) (24)
- Clinical phenotypes of MAGEL2 mutations and deletions (2014) (24)
- Chymotryptic-like hydrolysis of luliberin (LH-RF) by an adenohypophyseal enzyme of high molecular weight. (1981) (24)
- Somatic cell hybrid and long-range physical mapping of 11p13 microdissected genomic clones. (1990) (24)
- The human gene for the poly(A)-specific ribonuclease (PARN) maps to 16p13 and has a truncated copy in the Prader-Willi/Angelman syndrome region on 15q11→q13 (1999) (24)
- Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation (2006) (23)
- Structure and function of the human chromosome 15 imprinting center (1997) (23)
- Preovulatory Aging In Vivo and In Vitro Affects Maturation Rates, Abundance of Selected Proteins, Histone Methylation Pattern and Spindle Integrity in Murine Oocytes (2016) (23)
- Identification of RB1 germline mutations in Argentinian families with sporadic bilateral retinoblastoma. (1995) (23)
- Coronary Artery Calcification and Its Relationship to Validated Genetic Variants for Diabetes Mellitus Assessed in the Heinz Nixdorf Recall Cohort (2010) (23)
- Corrigendum: Inherited microdeletions in the Angelman and Prader–Willi syndromes define an imprinting centre on human chromosome 15 (1995) (23)
- Aging of Xenopus tropicalis Eggs Leads to Deadenylation of a Specific Set of Maternal mRNAs and Loss of Developmental Potential (2010) (22)
- Detection of small RB1 gene deletions in retinoblastoma by multiplex PCR and high-resolution gel electrophoresis (1992) (22)
- The C15orf2 gene in the Prader–Willi syndrome region is subject to genomic imprinting and positive selection (2010) (22)
- The tricho-rhino-phalangeal syndromes: frequency and parental origin of 8q deletions (1997) (22)
- Characterization and mapping of microdissected genomic clones from the adenomatous polyposis coli (APC) region. (1991) (21)
- Altering TET dioxygenase levels within physiological range affects DNA methylation dynamics of HEK293 cells (2015) (21)
- Mosaic imprinting defect in a patient with an almost typical expression of the Prader–Willi syndrome (2005) (21)
- Detection of submicroscopic deletions and a DNA polymorphism at the retinoblastoma locus (1987) (21)
- Construction and characterization of band-specific DNA libraries (1990) (20)
- Identification of novel exons 3' to the human SNRPN gene. (1997) (20)
- A pseudogene for the human ribosomal protein L5 (RPL5P1) maps within an intron of the SNRPN transcription unit on human chromosome 15. (1996) (20)
- A germ cell‐specific ageing pattern in otherwise healthy men (2020) (20)
- Regions of common inter-individual DNA methylation differences in human monocytes: genetic basis and potential function (2017) (20)
- A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith–Wiedemann syndrome (2016) (20)
- A tumor chromosome rearrangement further defines the 11p13 Wilms tumor locus. (1991) (20)
- Clinical utility gene card for: Prader-Willi Syndrome (2014) (19)
- Comparative chromosome band mapping in primates byin situ suppression hybridization of band specific DNA microlibraries (1991) (19)
- Long-term treatment effects in patients with bilateral retinoblastoma: ocular and mid-facial findings (2004) (19)
- The sperm epigenome does not display recurrent epimutations in patients with severely impaired spermatogenesis (2020) (19)
- Hormone-induced delayed ovulation affects early embryonic development. (2011) (18)
- Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8 (1999) (17)
- Characterization of a microdissection library from human chromosome region 3p14. (1994) (17)
- Evolutionary Origin and Methylation Status of Human Intronic CpG Islands that Are Not Present in Mouse (2014) (16)
- PW71 methylation test for Prader-Willi and Angelman syndromes. (1996) (16)
- Locus-Specific DNA Methylation Analysis by Targeted Deep Bisulfite Sequencing. (2018) (16)
- The Origin of the RB1 Imprint (2013) (16)
- Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15 (2001) (16)
- Use of the RB1 cDNA as a diagnostic probe in retinoblastoma families (1990) (15)
- Problems in detecting mosaic DNA methylation in Angelman syndrome (2003) (15)
- Measurement of local chromatin compaction by spectral precision distance microscopy (2000) (15)
- Gene probes in diagnosis of familial hypercholesterolemia. (1989) (14)
- Characterization of a neutral endopeptidase localized in the mitochondrial matrix of rat anterior pituitary tissue with GnRH as a substrate. (1984) (14)
- Construction of a chromosome 15-specific linking library and identification of potential gene sequences. (1988) (13)
- 11p15.5-specific libraries for identification of potential gene sequences involved in Beckwith-Wiedemann syndrome and tumorigenesis. (1992) (12)
- The Imprinted NPAP1 Gene in the Prader–Willi Syndrome Region Belongs to a POM121-Related Family of Retrogenes (2014) (12)
- Methylation analysis of SST and SSTR4 promoters in the neocortex of Alzheimer's disease patients (2014) (12)
- Identification of a deletion in the low density lipoprotein (LDL) receptor gene in a patient with familial hypercholesterolaemia (2004) (12)
- Lasp1 regulates adherens junction dynamics and fibroblast transformation in destructive arthritis (2021) (12)
- LINKAGE STUDY BETWEEN THE AMYLOID GENE AND FAMILIAL ALZHEIMERS-DISEASE (1987) (12)
- The European Prader-Willi Syndrome Clinical Research Database: an aid in the investigation of a rare genetically determined neurodevelopmental disorder. (2009) (12)
- Application of linkage analysis to genetic counselling in families with hereditary retinoblastoma. (1988) (11)
- The murine Ext1 gene shows a high level of sequence similarity with its human homologue and is part of a conserved linkage group on chromosome 15. (1997) (11)
- A 28-kb deletion spanning D15S63 (PW71) in five families: a rare neutral variant? (1999) (11)
- The mechanisms of genomic imprinting. (1999) (11)
- Estrogen effects on LH-RH degrading brain and pituitary enzymes. (1981) (10)
- No association between the presence of a constitutional RB1 gene mutation and age in 68 patients with isolated unilateral retinoblastoma. (1999) (10)
- Molecular analysis and predictive testing in retinoblastoma. (1995) (10)
- Classification and Visualization Based on Derived Image Features: Application to Genetic Syndromes (2014) (10)
- The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders (2018) (9)
- Common genetic variation in the Angelman syndrome imprinting centre affects the imprinting of chromosome 15 (2020) (9)
- Comment on: Jowett et al. (2010) Genetic Variation at the FTO Locus Influences RBL2 Gene Expression. Diabetes;59:726–732 (2010) (9)
- Parental origin and functional relevance of a de novo UBE3A variant. (2011) (9)
- Molecular Genetic Findings in Prader-Willi Syndrome (2006) (8)
- The adult phenotype of Schaaf-Yang syndrome (2020) (7)
- Degradation of LH-RH (1984) (7)
- In vitro postovulatory oocyte aging affects H3K9 trimethylation in two-cell embryos after IVF. (2019) (7)
- Genome-wide methylation analysis of retrocopy-associated CpG islands and their genomic environment (2016) (7)
- CD36 expression and its relationship with obesity in blood cells from people with and without Prader–Willi syndrome (2005) (7)
- wg-blimp: an end-to-end analysis pipeline for whole genome bisulfite sequencing data (2019) (7)
- Prader–Willi Syndrome and Angelman Syndrome (2006) (6)
- Interstitial deletions in DiGeorge syndrome detected with microclones from 22q11 (2004) (6)
- Whole-genome methylation analysis of testicular germ cells from cryptozoospermic men points to recurrent and functionally relevant DNA methylation changes (2021) (6)
- Detection of homozygous deletions in tumors by hybridization of representational difference analysis (RDA) products to chromosome-specific YAC clone arrays. (1999) (6)
- Deciphering the evolutionary origin of the RB1 imprint (2013) (6)
- Maternal origin of a de novo chromosome 8 deletion in a patient with Langer-Giedion syndrome (1989) (6)
- Isolation of DNA from the centromere of human chromosome 7 by microdissection (1997) (5)
- Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype. (1994) (4)
- Localization of surface peptidases (1986) (4)
- [Molecular genetics and diagnosis of retinoblastoma. Significance for ophthalmologic practice]. (1997) (4)
- Analysis of Solid Tumours with Recurrent Breakpoints in Chromosome Region 12q13–15 by Fluorescence In Situ Hybridization Using a Microclone Library (1994) (4)
- Waddington's epigenetic landscape and post‐Darwinian biology (2012) (4)
- Increased prevalence of imprinting defects in Angelman syndrome patients born to infertile couples (2004) (4)
- Characterization of a DNA sequence family in the Prader-Willi/Angelman syndrome chromosome region in 15q11-q13. (1993) (4)
- Human PPP1R26P1 Functions as cis-Repressive Element in Mouse Rb1 (2013) (4)
- Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X (2022) (4)
- Rhythm is not enough (2007) (3)
- Two RFLPs at the D8S50 locus. (1990) (3)
- No evidence for sequences structurally related to the RB1 gene in the human genome (1991) (3)
- Detailed characterization of a human 8q24.1 microdissection library and generation of "sequence-tagged sites". (1993) (3)
- Genome-Wide Analysis of the Nucleosome Landscape in Individuals with Coffin-Siris Syndrome (2019) (3)
- An NciI RFLP at the D15S63 locus in the critical Prader-Willi syndrome region in 15q11-13. (1993) (3)
- Comparative genomic hybridization of uveal melanoma (1994) (3)
- The Diagnostic Journey of a Patient with Prader–Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature (2021) (2)
- Molecular detection of genetic defects in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: A study of 27 families (1992) (2)
- PCR-mediated cloning of HpaII tiny fragments from microdissected human chromosomes. (1992) (2)
- Angelman Syndrome-Affected Individual with a Numerically Normal Karyotype and Isodisomic Paternal Uniparental Disomy of Chromosome 15 due to Maternal Robertsonian Translocation (14;15) by Monosomy Rescue (2018) (2)
- Correction: Deep Bisulfite Sequencing of Aberrantly Methylated Loci in a Patient with Multiple Methylation Defects (2013) (2)
- Deletion in one allele and a rare neutral DNA alteration in the other allele of the RB1 gene in a patient with bilateral retinoblastoma. (1992) (2)
- Molecular Analysis in Angelman Syndrome. Prader-Willi Syndrome and Potental Mouse Models (1992) (2)
- Microdissection of GTG-banded chromosomes and PCR-mediated cloning (1993) (2)
- Construction of band-specific DNA-libraries by microdissection of GTG-banded human chromosomes and universal enzymatic DNA amplification. (1991) (2)
- Evidence for correlations between BMI-associated SNPs and circRNAs (2022) (1)
- [Genetic and molecular diagnostics in retinoblastoma]. (1998) (1)
- The EIF3S3 gene encoding the p40 subunit of the translation initiation factor eIF3 has eight exons and maps to the Langer-Giedion syndrome chromosome region on 8q24, but is not the TRPS1 gene (1999) (1)
- Asp700 RFLP at the D8S45 locus. (1990) (1)
- Preovulatory oocyte aging in mice affects fertilization rate and embryonic genome activation (2017) (1)
- DNA POLYMORPHISM OF THE LOW-DENSITY LIPOPROTEIN (LDL) RECEPTOR GENE - A USEFUL LINKAGE MARKER FOR CHROMOSOME-19 (1985) (1)
- Physical mapping studies in Xq27 to Xq28 - analysis of a novel DNA marker close to the fragile site (1989) (1)
- A human somatic cell culture system for modelling gene silencing by transcriptional interference (2020) (1)
- Four RFLPs at the D8S42 locus (1990) (1)
- Three RFLPs at the D8S49 locus. (1990) (1)
- DNA deletions and DNA polymorphisms of the low density lipoprotein (LDL) receptor gene--their use in diagnosis. (1986) (1)
- Microdissection of human g banded metaphase chromosomes (1987) (0)
- P76: Kissing not required for maintenance of imprinting in cycling human cells (2005) (0)
- Systematic analysis and prediction of genes associated with disorders on chromosome X (2022) (0)
- Identification ofRB1germline mutations in Argentinian families withsporadic bilateral retinoblastoma (1995) (0)
- Epimutations in the human genome (2008) (0)
- DNA methylation based testing of 418 patients suspected of having Prader-Willi syndrome (PWS) and tentative localization of the 15q11-13 imprinting center (1994) (0)
- Imprinting disorders: novel findings and translation into diagnostics and management (2020) (0)
- チロシル‐グリシンとヒスチジル‐トリプトファン結合でルテイン化ホルモン‐放出ホルモンを加水分解する脳下垂体前葉の非キモトリプシン様エンドペプチダーゼの特性 (1980) (0)
- Minimal region of deletion on chromosomal arm 3p25.1-p25.2 in uveal melanoma. (2005) (0)
- No evidence for linkage between lipoprotein(a) (LPA) and esterase D (ESD). (1988) (0)
- Epigenetic plasticity via adaptive DNA hypermethylation and clonal expansion underlie resistance to oncogenic pathway inhibition in pancreatic cancer (2022) (0)
- Timeline of pre- and postovulatory aging in vivo (A, B) and in vitro (C, D). (2014) (0)
- GC-rich repeat expansions: associated disorders and mechanisms (2021) (0)
- Angelman Syndrome Caused by a Paternal Uniparental Disomy (UPD) 15 in a 2-Year-Old Boy of a Mother with a Robertsonian Translocation 14;15 (2016) (0)
- retinoblastoma . families with hereditary to genetic counselling in Application of linkage analysis (0)
- An insertion/deletion polymorphism at the D15S63 locus in the critical Prader-Willi syndrome region in 15q11-13 (1994) (0)
- Novel strategies to cure imprinting disorders (2020) (0)
- Of wolves and men: the role of paternal child care in the evolution of genomic imprinting (2009) (0)
- A transgenic mouse model ubiquitously overexpressing Dnmt1s mRNA lacks increased protein levels (2014) (0)
- Epigenetic dynamics of monocyte-to-macrophage differentiation (2016) (0)
- Contents Vol. 113, 2006 (2006) (0)
- SacI RFLPs at the D8S51 locus. (1990) (0)
- Contents, Vol. 75, 1996 (1996) (0)
- Two RFLPs at the D8S42 locus. (1990) (0)
- MOESM2 of Epigenetic dynamics of monocyte-to-macrophage differentiation (2016) (0)
- with acute myeloid leukemia ) is associated GFI1 ( Growth Factor Independence 1 A variant allele of (2010) (0)
- Genetics, Expression and Localization of the Amyloid Precursor of Alzheimer’s Disease (1988) (0)
- A critical appraisal of clinical epigenetics (2022) (0)
- Deciphering the evolutionary origin of the RB1 imprint (2013) (0)
- Contents, Vol. 38, 1984 (1984) (0)
- Subject Index Vol. 38, 1984 (1984) (0)
- Teasing out information from 2D pictures of dysmorphic faces: finding a model for integrated side and frontal views and age effects yields accuracy of > 90% in syndrome classification (2006) (0)
- No evidence for intervention-associated DNA methylation changes in monocytes of patients with posttraumatic stress disorder (2020) (0)
- MOESM11 of Epigenetic dynamics of monocyte-to-macrophage differentiation (2016) (0)
- [Rapid first-tier genetic diagnosis in patients with Prader-Willi syndrome]. (2018) (0)
- Elsődleges genetikai vizsgálat Prader–Willi-szindróma igazolására = Rapid first-tier genetic diagnosis in patients with Prader–Willi syndrome (2018) (0)
- Subject Index, Vol. 76, 1997 (1997) (0)
- Identification of genes involved in progression of retinoblastoma Inaugural (2005) (0)
- Chromosome microdissection and cloning: A practical guide: by Nabil G. Hagag and Michael V. Viola Academic Press, 1993. $27.00/$34.95 (160 pages) ISBN 0 12 313320 3 (1994) (0)
- DNA Polymorphisms of the Low Density Lipoprotein (LDL) Receptor Gene (1986) (0)
- MOESM13 of Epigenetic dynamics of monocyte-to-macrophage differentiation (2016) (0)
- Atypical Prader-Willi Syndrome (2006) (0)
- A critical view on transgenerational epigenetic inheritance in humans (2018) (0)
- Claussnitzer et al manuscript coauthor review-Cell (2014) (0)
- Common genetic variation in the Angelman syndrome imprinting centre affects the imprinting of chromosome 15 (2020) (0)
- DEGRADATION OF LUTEINIZING HORMONE - RELEASING HORMONE (LH-RH) BY HYPOPHYSEAL ENZYMES (1981) (0)
- Subject Index, Vol. 75, 1996 (1996) (0)
- wg-blimp: an end-to-end analysis pipeline for whole genome bisulfite sequencing data (2020) (0)
- Regions of common inter-individual DNA methylation differences in human monocytes: genetic basis and potential function (2017) (0)
- Mouse models for genomic imprinting and phenotypic features in Prader-Willi and Angelman syndromes (1992) (0)
- Application oflinkage analysis togenetic counselling infamilies withhereditary retinoblastoma (1988) (0)
- A BanII RFLP in the ZNF34 zinc finger gene on chromosome 8. (1993) (0)
- Recombinant DNA technology and low-density lipoprotein receptor defects. (1987) (0)
- Identification ofdeletions inthehumanlowdensity lipoprotein receptor gene (1987) (0)
- Rapid detection of an Angiotensin Type 2 Receptor Gene variant: no evidence for linkage and association with primary vesicoureteral reflux (2000) (0)
- The sperm epigenome does not display recurrent epimutations in patients with severely impaired spermatogenesis (2020) (0)
- Next-Generation-Sequencing in der Epigenetik (2019) (0)
- MOESM7 of Epigenetic dynamics of monocyte-to-macrophage differentiation (2016) (0)
- The inheritance of epigenetic defects (2017) (0)
- Whole-genome methylation analysis of testicular germ cells from cryptozoospermic men points to recurrent and functionally relevant DNA methylation changes (2021) (0)
- The deletional region for the prader willi and angelman syndromes is syntenic to the proximal region of mouse chromosome 7 (1991) (0)
- A critical appraisal of clinical epigenetics (2022) (0)
- Comparative genomic hybridization ( CGH ) allows the genome-scale detection of complete and partial chromo - (0)
- MOESM14 of Epigenetic dynamics of monocyte-to-macrophage differentiation (2016) (0)
- Stephan Beck, Alexander Olek (eds): The Epigenome: Molecular Hide and Seek (2003) (0)
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