Barbara Migeon | Academic Influence

Barbara Migeon's AcademicInfluence.com Rankings

Barbara Migeon

Biology

#3737

World Rank

#5674

Historical Rank

#1490

USA Rank

Genetics

#668

World Rank

#754

Historical Rank

#231

USA Rank

Molecular Biology

#917

World Rank

#940

Historical Rank

#191

USA Rank

biology Degrees

Download Badge

Biology

Barbara Migeon's Degrees

PhD Genetics University of California, Berkeley
Masters Biology Stanford University

Similar Degrees You Can Earn

Best Online Master's in Biology

Why Is Barbara Migeon Influential?

(Suggest an Edit or Addition)

According to Wikipedia, Barbara Ruben Migeon is a professor at the Johns Hopkins University Institute of Genetic Medicine. She founded the Johns Hopkins program in Human Genetics and Molecular Biology. Migeon is the author of Females are Mosaics: X inactivation and sex differences in disease. She was awarded the American College of Medical Genetics and Genomics Dimes/Colonel Harland D. Sanders Lifetime Achievement Award in 2016.

(See a Problem?)

Barbara Migeon's Published Works

Number of citations in a given year to any of this author's works

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

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities (2008) (567)
D-valine as a selective agent for normal human and rodent epithelial cells in culture (1975) (389)
Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements (2011) (388)
A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome (2001) (319)
Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells. (1981) (267)
Methylation of the hypoxanthine phosphoribosyltransferase locus on the human X chromosome: implications for X-chromosome inactivation. (1984) (262)
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males (2006) (259)
Mechanism of origin of complete hydatidiform moles (1980) (234)
Human Chromosome 7: DNA Sequence and Biology (2003) (208)
Three related centromere proteins are absent from the inactive centromere of a stable isodicentric chromosome (2004) (186)
X-Linked Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency: Heterozygote Has Two Clonal Populations (1968) (176)
Locus on human X chromosome for dihydrotestosterone receptor and androgen insensitivity. (1975) (175)
The role of X inactivation and cellular mosaicism in women's health and sex-specific diseases. (2006) (172)
DNA methylation stabilizes X chromosome inactivation in eutherians but not in marsupials: evidence for multistep maintenance of mammalian X dosage compensation. (1987) (169)
Sex difference in methylation of single-copy genes in human meiotic germ cells: Implications for X chromosome inactivation, parental imprinting, and origin of CpG mutations (1990) (157)
Studies of X chromosome DNA methylation in normal human cells (1982) (139)
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. (2009) (135)
Complex chromosome rearrangements:Report of a new case and literature review (1980) (134)
Studies of the locus for androgen receptor: localization on the human X chromosome and evidence for homology with the Tfm locus in the mouse. (1981) (134)
SNP‐based non‐invasive prenatal testing detects sex chromosome aneuploidies with high accuracy (2013) (133)
Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation. (1980) (131)
X-chromosome inactivation: molecular mechanisms and genetic consequences. (1994) (126)
Species differences in TSIX/Tsix reveal the roles of these genes in X-chromosome inactivation. (2002) (125)
Differential expression of steroid sulphatase locus on active and inactive human X chromosome (1982) (125)
Identification of TSIX, encoding an RNA antisense to human XIST, reveals differences from its murine counterpart: implications for X inactivation. (2001) (124)
22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH (2010) (124)
Why females are mosaics, X-chromosome inactivation, and sex differences in disease. (2007) (123)
Genetic Inactivation of the α-Galactosidase Locus in Carriers of Fabry's Disease (1970) (121)
Clusters of CpG dinucleotides implicated by nuclease hypersensitivity as control elements of housekeeping genes (1985) (116)
Prevalence of Autism Spectrum Disorders in Hispanic and Non-Hispanic White Children (2012) (110)
Expression of the G6PD locus on the human X chromosome is associated with demethylation of three CpG islands within 100 kb of DNA. (1988) (104)
The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease. (1976) (104)
Human-Mouse Somatic Cell Hybrids with Single Human Chromosome (Group E): Link with Thymidine Kinase Actvity (1968) (102)
Autism and Increased Paternal Age Related Changes in Global Levels of Gene Expression Regulation (2011) (101)
Characterization of a cloned DNA sequence that is present at centromeres of all human autosomes and the X chromosome and shows polymorphic variation. (1984) (101)
Human Thymidine Kinase Gene Locus: Assignment to Chromosome 17 in a Hybrid of Man and Mouse Cells (1971) (100)
Further delineation of Kabuki syndrome in 48 well‐defined new individuals (2005) (97)
Incomplete X chromosome dosage compensation in chorionic villi of human placenta. (1985) (93)
The severe phenotype of females with tiny ring X chromosomes is associated with inability of these chromosomes to undergo X inactivation. (1994) (92)
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. (2016) (90)
The human NTT gene: identification of a novel 17-kb noncoding nuclear RNA expressed in activated CD4+ T cells. (1997) (88)
Non-random X chromosome inactivation in mammalian cells (1998) (87)
Stability of X Chromosomal Inactivation in Human Somatic Cells (1972) (87)
Selection against lethal alleles in females heterozygous for incontinentia pigmenti. (1989) (83)
Females Are Mosaics: X Inactivation and Sex Differences in Disease (2007) (83)
Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes. (1993) (83)
Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG) (2021) (80)
The Prenatal Diagnosis of Adrenoleukodystrophy. Demonstration of Increased Hexacosanoic Acid Levels in Cultured Amniocytes and Fetal Adrenal Gland (1982) (79)
Complete concordance between glucose-6-phosphate dehydrogenase activity and hypomethylation of 3' CpG clusters: implications for X chromosome dosage compensation. (1984) (78)
The Barr body is a looped X chromosome formed by telomere association. (1991) (77)
Molecular autopsy in maternal–fetal medicine (2017) (75)
Effect of ageing on reactivation of the human X-linked HPRT locus (1988) (75)
Asynchronous replication of homologous loci on human active and inactive X chromosomes. (1990) (73)
DNA restriction endonuclease analysis for localization of human beta- and delta-globin genes on chromosome 11. (1979) (72)
The ancient cell death suppressor BAX inhibitor-1. (2011) (71)
X-linked diseases: susceptible females (2020) (69)
Angiotensinogen and endothelial nitric oxide synthase gene polymorphisms among Hispanic patients with preeclampsia. (2001) (68)
Human X inactivation center induces random X chromosome inactivation in male transgenic mice. (1999) (67)
Comparison of contact-mediated communication in normal and transformed human cells in culture. (1977) (67)
Further delineation of the epidermal nevus syndrome: two cases with new findings and literature review. (1993) (67)
WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects (2017) (66)
FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants (2017) (65)
Studies of X inactivation and isodisomy in twins provide further evidence that the X chromosome is not involved in Rett syndrome. (1995) (65)
Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome. (1997) (62)
DNA replication analysis of FMR1, XIST, and factor 8C loci by FISH shows nontranscribed X-linked genes replicate late. (1994) (60)
Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome. (1997) (59)
Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation (2016) (58)
Polymorphisms of the angiotensinogen gene, the endothelial nitric oxide synthase gene, and the interleukin-1beta gene promoter in women with idiopathic recurrent miscarriage. (2002) (58)
The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications (2017) (56)
Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects (2016) (54)
Genetic analysis of Hispanic individuals with cystic fibrosis. (1994) (54)
X inactivation, female mosaicism, and sex differences in renal diseases. (2008) (53)
Complete reactivation of X chromosomes from human chorionic villi with a switch to early DNA replication. (1986) (53)
Assignment of the haemophilia B (Factor IX) locus to the q26‐qter region of the X chromosome (1984) (52)
ANDROGEN RECEPTORS AND METABOLISM IN CULTURED HUMAN FETAL FIBROBLASTS (1980) (50)
Derepression with decreased expression of the G6PD locus on the inactive X chromosome in normal human cells (1982) (49)
Evidence for two active X chromosomes in germ cells of female before meiotic entry (1977) (49)
Insights into X chromosome inactivation from studies of species variation, DNA methylation and replication, and vice versa. (1990) (48)
Human and mouse hypoxanthine-guanine phosphoribosyltransferase: dimers and tetramers. (1979) (48)
Molecular characterization of tiny ring X chromosomes from females with functional X chromosome disomy and lack of cis X inactivation. (1995) (46)
X-linked Hunter syndrome: the heterozygous phenotype in cell culture. (1977) (45)
Renal enzymes in kidney cells selected by D‐valine medium (1977) (45)
Familial nonrandom inactivation linked to the X inactivation centre in heterozygotes manifesting haemophilia A (2005) (44)
The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle. (2008) (44)
The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency? (1977) (44)
Adrenoleukodystrophy: studies of the phenotype, genetics and biochemistry. (1980) (43)
Frequent derepression of G6PD and HPRT on the marsupial inactive X chromosome associated with cell proliferation in vitro. (1989) (43)
Contact-mediated communication of ouabain resistance in mammalian cells in culture (1977) (43)
Lack of X inactivation associated with maternal X isodisomy: evidence for a counting mechanism prior to X inactivation during human embryogenesis. (1996) (43)
Neurologic and gastrointestinal dysfunction in cardio-facio-cutaneous syndrome: identification of a severe phenotype. (2000) (42)
In search of non-random X inactivation: studies of fetal membranes heterozygous for glucose-6-phosphate dehydrogenase. (1979) (40)
Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome. (2002) (40)
Clonal evolution in human lymphoblast cultures. (1988) (39)
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients (2020) (39)
Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly (2013) (39)
Differential X reactivation in human placental cells: implications for reversal of X inactivation. (2005) (38)
Stability of the “two active X” phenotype in triploid somatic cells (1979) (37)
Centromeric inactivation in a dicentric human Y;21 translocation chromosome (1997) (37)
X chromosome inactivation: theme and variations (2003) (36)
Non–random loss of human markers from man–mouse somatic cell hybrids (1974) (36)
Comparison of factor IX methylation on human active and inactive X chromosomes: implications for X inactivation and transcription of tissue‐specific genes. (1986) (36)
Is Tsix repression of Xist specific to mouse? (2003) (35)
DNA methylation of the fragile X locus in somatic and germ cells during fetal development: Relevance to the fragile X syndrome and X inactivation (1993) (35)
Isolation and characterization of cloned DNA sequences that hybridize to the human X chromosome (1980) (35)
Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach (2020) (34)
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder (2019) (34)
Choosing the Active X: The Human Version of X Inactivation. (2017) (33)
Quantitation of contact-feeding between somatic cells in culture. (1975) (33)
A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation (2018) (33)
Evidence for the inactivation of an X chromosome early in the development of the human female. (1975) (30)
Second trimester prenatal diagnosis of epignathus teratoma in ring X chromosome mosaicism with inactive ring X chromosome. (2001) (30)
Studies of skin fibroblasts from 10 families with HGPRT deficiency, with reference in X-chromosomal inactivation. (1971) (29)
Familial skewed X inactivation and X-linked mutations: unbalanced X inactivation is a powerful means to ascertain X-linked genes that affect cell proliferation. (1998) (29)
Studies of X-chromosome inactivation in trisomies. (1989) (28)
Maternal balanced translocation leading to partial duplication of 4q and partial deletion of 1p in a son: cytogenetic and FISH studies using band-specific painting probes generated by chromosome microdissection. (1997) (28)
The genomic and clinical landscape of fetal akinesia (2019) (28)
Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome. (1995) (27)
Programmed demethylation in CpG islands during human fetal development (1991) (27)
Isolation and analysis of somatic hybrids derived from two human diploid cells. (1974) (27)
Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities (2015) (26)
Severe hemophilia A in a female by cryptic translocation: order and orientation of factor VIII within Xq28. (1993) (26)
Selection and cell communication as determinants of female phenotype. (1978) (26)
Signal sequence and DNA‐mediated expression of human lysosomal α‐galactosidase A (1987) (26)
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies (2017) (25)
Short arm deletions in group E and chromosomal "deletion" syndromes. (1966) (25)
Non-Invasive Prenatal Detection of Trisomy 13 Using a Single Nucleotide Polymorphism- and Informatics-Based Approach (2014) (25)
Glycogen-storage disease associated with phosphorylase kinase deficiency: evidence for X inactivation. (1974) (24)
Severe phenotypes associated with inactive ring X chromosomes. (2000) (24)
Evidence for a relationship between DNA methylation and DNA replication from studies of the 5-azacytidine-reactivated allocyclic X chromosome. (1985) (24)
The interface of genomic information with the electronic health record: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG) (2020) (23)
Complete detection of mutations in cystic fibrosis patients of Native American origin (1994) (23)
Interferon Production and Action in Mouse, Hamster, and Somatic Hybrid Mouse-Hamster Cells (1968) (23)
DNA methylation: Molecular biology and biological significance (1993) (22)
Haptoglobin: a locus on the D1 chromosome? (1967) (22)
X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: Detection of heterozygotes by selective medium (1970) (21)
Mutation analysis of the cystic fibrosis transmembrane regulator gene in Native American populations of the southwest. (1992) (21)
Molecular studies of marsupial X chromosomes reveal limited sequence homology of mammalian X-linked genes. (1987) (21)
Embryonic loss of human females with partial trisomy 19 identifies region critical for the single active X (2017) (21)
X inactivation in triploidy and trisomy: the search for autosomal transfactors that choose the active X (2008) (20)
Low-copy-number human transgene is recognized as an X inactivation center in mouse ES cells, but fails to induce cis-inactivation in chimeric mice. (2001) (20)
Chromatin loop structure of the human X chromosome: relevance to X inactivation and CpG clusters (1989) (20)
Autosomal dominant inheritance of hypothalamic hamartoma associated with polysyndactyly: heterogeneity or variable expressivity? (1996) (19)
Familial occurrence of the somatic phenotype of Turner's syndrome. (1967) (19)
In search of nonrandom X inactivation: studies of the placenta from newborns heterozygous for glucose-6-phosphate dehydrogenase. (1978) (18)
De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features (2018) (17)
Effect of ouabain resistance on human diploid fibroblasts carrying other genetic variants. (1975) (16)
Artefactual Chromatid Aberrations in Untreated and X-ray-treated Human Lymphocytes (1964) (16)
Hybridization of mammalian somatic cells. (1970) (16)
Sex Differences in Disease (2013) (16)
FAMILIAL VARIANT AUTOSOMES: NEW HUMAN CYTOGENETIC MARKERS. (1965) (16)
Localization of glucose-6-phosphate dehydrogenase in mouse and man by in situ hybridization: evidence for a single locus and transposition of homologous X-linked genes. (1985) (15)
Genetic inactivation of the alpha-galactosidase locus in carriers of Fabry's disease. (1970) (15)
Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/− mice (2019) (14)
Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing (2020) (14)
The single active X in human cells: evolutionary tinkering personified (2011) (14)
Chronic pain in Noonan Syndrome: A previously unreported but common symptom (2015) (13)
Characterization of reiterated human DNA with respect to mammalian X chromosome homology (1984) (13)
FOXG 1 syndrome : genotype – phenotype association in 83 patients with FOXG 1 variants (2017) (13)
Translocation of the nucleolus organizer region to the human X chromosome. (1986) (13)
Concerning the role of X-inactivation and DNA methylation in fragile X syndrome. (1992) (13)
Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features (2020) (12)
Electroclinical phenotypes and outcomes in TBC1D24-related epilepsy. (2016) (12)
An overview of X inactivation based on species differences. (2016) (12)
Fragile X syndrome: search for phenotypic manifestations at loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase. (1981) (11)
The XIST locus replicates late on the active X, and earlier on the inactive X based on FISH DNA replication analysis of somatic cell hybrids (1995) (10)
The postulated X-inactivation center at Xq27 is most reasonably explained by ascertainment bias: heterozygous expression of recessive mutations is a powerful means of detecting unbalanced X inactivation. (1993) (10)
Addendum: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment (2019) (10)
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila. (2021) (10)
An atypical presentation of ACAD9 deficiency: Diagnosis by whole exome sequencing broadens the phenotypic spectrum and alters treatment approach (2016) (9)
RECIPROCAL (D;E) TRANSLOCATION: EUPLOID TRANSMISSION IN THREE GENERATIONS. (1964) (9)
Methylation status of genes flanking the fragile site in males with the fragile-X syndrome: a test of the imprinting hypothesis. (1990) (9)
Studies of human-mouse cell hybrids with respect to X-chromosome inactivation. (1978) (9)
XIST expression is repressed when X inactivation is reversed in human placental cells: A model for study ofXIST regulation (1995) (9)
Implementing prenatal screening for cystic fibrosis in routine obstetric practice. (2005) (9)
Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA (2017) (9)
Thyroxin, Satellite Association and Trisomy (1966) (8)
Dosage compensation in the regulation of erythrocyte glucose-6-phosphate dehydrogenase activity. (1963) (8)
Hybridization of somatic cells derived from mouse and Syrian hamster: Evolution of karyotype and enzyme studies (1968) (8)
Expanded phenotype of AARS1-related white matter disease (2021) (8)
Genetic Etiologies for Chronic Kidney Disease Revealed through Next-Generation Renal Gene Panel (2022) (8)
Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome. (1996) (8)
Genetic disorders of male sexual differentiation. (1980) (7)
Biochemical and genetic aspects of mental retardation. (1966) (7)
Identification of two novel mutations in the hypoglycemic phenotype of very long chain acyl-CoA dehydrogenase deficiency. (1999) (7)
PURA-Related Developmental and Epileptic Encephalopathy (2021) (7)
Stewardship of patient genomic data: A policy statement of the American College of Medical Genetics and Genomics (ACMG). (2021) (6)
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy (2020) (6)
Role of DNA methylation in X inactivation and the fragile X syndrome (1993) (5)
Molecular characterization of a deleted X chromosome (Xq13.3-Xq21.31) exhibiting random X inactivation (1995) (5)
7p deletion syndrome: an adult with mild manifestations. (1992) (5)
Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking (2019) (5)
The nature of thymidine kinase in the human-mouse hybrid cell (1969) (5)
Assignment of human thymidine kinase gene locus to chromosome 17 by identification of its distinctive quinacrine-fluorescence in man/mouse somatic hybrid cells (1971) (5)
Stochastic gene expression and chromosome interactions in protecting the human active X from silencing by XIST (2020) (5)
Correction to: Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG) (2021) (5)
Implications for X-chromosome regulation from studies of human X-chromosome DNA. (1983) (5)
Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause (2019) (4)
Hyperexpression of HPRT induced by 5-azacytidine in mouse-human hybrid reactivants. (1985) (4)
Unreliability of the microcomplement fixation method for Xga typing of cultured fibroblasts. (1976) (4)
Erratum: Severe hemophilia A in a female by cryptic translocation: Order and orientation of factor VIII within Xq28 (Genomics (1993) 16:1 (20-25)) (1993) (4)
The Non-random Location of Autosomal Genes That Participate in X Inactivation (2019) (4)
A chromosome abnormality with fragment in a paramongol child. (1962) (4)
Sex differences in activity of glucose 6-phosphate dehydrogenase from cultured human fetal lung cells despite X-inactivation (1973) (3)
Further evidence of contrasting phenotypes caused by reciprocal deletions and duplications (2012) (3)
Signal sequence and DNA-mediated expression of human lysosomal alpha-galactosidase A. (1987) (3)
Phenotypic heterogeneity within clones of fetal human cells. (1981) (3)
Cleft Palate as Distinguishing Feature in a Patient with GABRB3 Epileptic Encephalopathy (2019) (3)
THE RELATIONSHIP OF TWO XANTHINE OXIDASE SINGLE NUCLEOTIDE POLYMORPHISMS TO HYPERURICEMIA, GOUT, AND DOSE OF XANTHINE OXIDASE INHIBITOR (2013) (3)
HYBRIDIZATION OF MAMMALIAN CELLS * (1970) (3)
Multiple symmetric lipomatosis as a genetic disorder: a review (2012) (3)
Titles and abstracts of scientific reports ignore variation among species (2014) (3)
Barton Childs 1916–2010 (2010) (3)
Localization of G6PD and HPRT to different arms of the X chromosome of the North American marsupial (Didelphis virginiana) by in situ hybridization and deletion mapping: evolutionary significance. (1988) (3)
Selection of epithelial cells in culture by D-valine medium. (1980) (2)
Genomic imprinting (development 1990 supplement) (1991) (2)
BLOOD-GROUP CHIMÆRISM WITH DOWN'S SYNDROME (1967) (2)
Fabryl's disease: Evidence for structural mutation of α-galactosidase (1971) (2)
Somatic cell hybrids: applications relevant to genetic disease. (1971) (2)
Some insights into X chromosome inactivation from studies of human cells. (1980) (2)
X chromosome inactivation (1989) (2)
A rational approach to cystic fibrosis mutation analysis in Hispanics: reply to Arzimanoglou et al. (1996) (2)
Preimplantation Genetic Testing for Kidney Disease-Related Genes: A Laboratory’s Experience (2021) (2)
Selection against the mutation in females provides new insights into incontinentia pigmenti (1987) (1)
Silencing XIST on the future active X: Searching human and bovine preimplantation embryos for the repressor. (2022) (1)
Genetic heterogeneity of alpha-galactosidase in fabry's disease. (1972) (1)
Recent Advances in Human Genetics (1961) (1)
Reflections on the history of genetic medicine at Johns Hopkins University (2021) (1)
X chromosome inactivation in human cells (2010) (1)
Les Chromosomes Humains (Caryotype Normal et Variations Pathologiques) by Raymond Turpin and Jerome Lejeune. Paris: Gautier-Villars, 1965, 535 pp. 100 figures, 54 F (1965) (1)
Erratum to: The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications (2017) (1)
Glucose-6-phosphate dehydrogenase as a probe for the study of X-chromosome inactivation in hunan females. (1983) (1)
The interface of genomic information with the electronic health record: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG) (2020) (1)
Genotyping and Cytology Triage of High-Risk HPV DNA Positive Women for Detection of Cervical High-Grade Lesions (2022) (1)
A phenotypically diverse family with an atypical 22q11.2 deletion due to an unbalanced 18q23;22q11.2 translocation (2021) (1)
NICHD conference. Role of DNA methylation in X inactivation and the fragile X syndrome. (1993) (1)
Unreliability of the microcomplement fixation method for Xga typing of cultured fibroblasts. (1976) (1)
Prenatal diagnosis of bilateral retinoblastomas by multimodality fetal imaging: case report and review of the literature. (2021) (1)
The X in Sex: How the X Chromosome Controls our Lives. (2005) (1)
Primary antibody deficiency associated with ring chromosome 18 (2020) (1)
Book ReviewGenetics of Sex Differentiation. (1973) (0)
Correction: Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause (2020) (0)
Some observations on the Staphylococcus in a pediatric out-patient population. (1960) (0)
Addendum: ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing (2020) (0)
Genome-wide mosaic maternal uniparental disomy in a female with multiple imprinting disorders (2021) (0)
Correction: Addendum: ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing (2020) (0)
Determinants of Female Phenotypes (2013) (0)
Inactivation: Studies of Fetal Membranes Heterozygous for Glucose-6-Phosphate Dehydrogenase (2006) (0)
X inactivation and cellular mosaicism. Author's reply (2006) (0)
X Chromosome Dosage Compensation (2013) (0)
TWO CASES OF 22Q11.2 DELETION SYNDROME AND TYPE 1 DIABETES (2017) (0)
Androgen Receptors and Metabolism in the Human Fetus (1978) (0)
Evaluation of dilated cardiomyopathy in a teenager reveals dual genetic conditions: importance of completing the diagnostic journey (2021) (0)
DIGEORGE SYNDROME IS A SIGNIFICANT RISK FACTOR FOR THE DEVELOPMENT OF INFECTIOUS ENDOCARDITIS FOLLOWING TRANSCATHETER PULMONARY VALVE REPLACEMENT WITH THE MELODY VALVE (2021) (0)
The effect of low doses of x-ray (diagnostic procedures) on the chromosomes of human infants (1964) (0)
Referees for volume 30 (1992) (0)
Case Report : Compound heterozygous nonsense mutations in are associated with microcephaly , delayed TRMT 10 A development , and periventricular white matter hyperintensities (2016) (0)
Rare case of brittle cornea syndrome in a healthy 11-year-old: implications for medical management to prevent blindness (2021) (0)
Molecular studies of marsupial x chromosomes insights into human x chromosomes inactivation and evolution of pseudogenes (1986) (0)
The Single Active X (2013) (0)
Chromatin LoopStructure oftheHumanX Chromosome: Relevance toX Inactivation andCpGClusters (1989) (0)
CLINICAL AND GENETIC ANALYSIS OF PALLISTER-HALL SYNDROME. •470 (1996) (0)
Novel Case of Prader–Willi Syndrome and Ebstein's Anomaly: Implications for Complex Care Management (2022) (0)
Subject Index Vol. 16, 1976 (1976) (0)
X Inactivation and Cellular Mosaicism—Reply (2006) (0)
Book Review:Human Intersex. David J. B. Ashley, R. Winston Evans (1963) (0)
Birth Defects.Morris Fishbein (1964) (0)
TheBarrbodyisalooped X chromosome formedby telomere association (1991) (0)
Subject Index Vol. 99, 2002 (2003) (0)
Stability of X chromosomal inactivation in human somatic cells transformed by SV-40 (1975) (0)
Book Review:Growth Failure in Maternal Deprivation. Robert Gray Patton, Lytt I. Gardner (1964) (0)
P.167 Severe form of recessive Charcot-Marie-Tooth disease with a novel mutation in myotubularin related protein 2 (2017) (0)
, David Bainbridge (Ed.). Harvard University Press, Cambridge, MA: (2003), 205, $22.95 hardcover, $14.95 paperback (2005) (0)
Correction: The genomic and clinical landscape of fetal akinesia (2020) (0)
Novel Biallelic Variants in KIF21A Cause a Novel Phenotype of Fetal Akinesia with Neurodevelopmental Defects (2021) (0)
P 1001. A Pathogenic GABRB3 Variant Is Associated with Cleft Palate in a Patient with Epileptic Encephalopathy (2018) (0)
The genomic and clinical landscape of fetal akinesia (2019) (0)
Book Review:The Consequences of Chromosome Imbalance: Principles, Mechanisms, and Models. Charles J. Epstein (1987) (0)
Correction: Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause (2020) (0)
Contents Vol. 99, 2002 (2003) (0)
Theme 2 (2006) (0)
Genomic imprinting (development 1990 supplement): edited by Marilyn Monk and Azim Surani, Company of Biologists, 1990. £30.00, $55.00 (155 pages) ISBN 0 948601 26 4 (1991) (0)
Utilization of renal NGS panel to uncover dual diagnoses: “APOL1-plus” in patients with chronic kidney disease (2021) (0)
Contents Vol. 3, 2012 (2013) (0)
Author response: Titles and abstracts of scientific reports ignore variation among species (2014) (0)
Expanded Carrier Screening and Professional Society Guidelines: One Laboratory’s Experience [7E] (2018) (0)
Correction: Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach (2020) (0)
Correction: Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach (2020) (0)
X-linked diseases: susceptible females (2020) (0)
Epimutations, Chromatin Disorders, and Sex Differences in Phenotype (2013) (0)
Regulation of cell phenotype in euploid human hybrids. Ouabain resistance is codominant (1977) (0)
Defining the genetic etiology of chronic kidney disease in women identifies maternal-fetal health risks (2021) (0)
Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach (2020) (0)
Isolation and Analysis of Somatic Hybrids Human Diploid Cells (complementation/X inactivation/contact feeding (met (2016) (0)
Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause (2019) (0)
1040 PATIENT REMOTENESS FROM URBAN CENTRE DOES NOT IMPACT GASTRIC CANCER OUTCOMES IN THE CONTEXT OF AN ESTABLISHED CARE CORRIDOR TO A SPECIALIST MULTIDISCIPLINARY CANCER CENTRE (2020) (0)
The Role of Palliative Surgery in Stage IV Gastric Cancer: A Retrospective Study (2022) (0)
Evolution of the Human Sex Chromosomes and a Portrait of the Human X (2013) (0)
Experimental Models for X Inactivation Studies (2013) (0)
The Deciphering Developmental Disorders Study (2019). De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder. American Journal of Human Genetics 104 (4), (2019) (0)
P359: Early-onset psychosis: Exploring the psychological phenotype of DLG4-related synaptopathy (2023) (0)
The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications (2016) (0)
Studies of X-chromosome inactivation in trisomies (1989) (0)
DOES 22Q11.2 DELETION SYNDROME INCREASE THE RISK OF EARLY CONDUIT INTERVENTION AND REPLACEMENT? (2023) (0)
Silencing XIST on the future active X: Searching human and bovine preimplantation embryos for the repressor (2021) (0)
Heredity under the microscope: Chromosomes and the study of the human genomeSorayadeChadarevianUniversity of Chicago Press, 2020 (2020) (0)
INSIGHTS INTO G6PD REGULATION FROM STUDIES OF X DOSAGE COMPENSATION (1986) (0)
Atypical Prader-Willi Syndrome (2006) (0)
Fetal Mortality and Sex Ratio (1979) (0)
Risk categorization for oversight of laboratory-developed tests for inherited conditions: an updated position statement of the American College of Medical Genetics and Genomics (ACMG) (2020) (0)
Selected bibliography of Susumu Ohno (1998) (0)
Evidence fortheInactivation ofanX Chromosome EarlyintheDevelopment oftheHumanFemale (1975) (0)
Referees for volume 30 (2004) (0)
Chorionic villus sampling: Fetal diagnosis of genetic diseases in the first trimester (1986) (0)
The Discovery of X Chromosome Inactivation (2013) (0)
743 PRENATAL IDENTIFICATION OF AN ADRENOLEUKODYSTROPHY HETEROZYGOTE (1981) (0)
New Editors, Features and Procedures (1989) (0)

This paper list is powered by the following services:

Other Resources About Barbara Migeon

en.wikipedia.org

What Schools Are Affiliated With Barbara Migeon?

Barbara Migeon is affiliated with the following schools: