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  1. Outputs

AMERICAN JOURNAL OF HUMAN GENETICS

Journal
Identifier:
E007642
ISSN:
0002-9297
  • Overview

Overview

Outputs (122)

  • ascendant
  • decrescent
: Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity
Academic Article
A "Copernican" reassessment of the human mitochondrial DNA tree from its root
Academic Article
A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter-Tonz Syndrome
Academic Article
A back migration from Asia to sub-Saharan Africa is supported by high-resolution analysis of human Y-chromosome haplotypes
Academic Article
A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility
Academic Article
A mitochondrial DNA variant, identified in Leber's Hereditary Optic Neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I
Academic Article
A signal, from human mtDNA, of postglacial recolonization in Europe
Academic Article
A synopsis of the entire Y-chromosome European gene pool using biallelic polymorphisms
Conference Paper
A view of the neolithic demic diffusion in Europe through two Y chromosome-specific markers.
Academic Article
About the "Asian"-specific 9-bp deletion of mtDNA ...
Academic Article
About the “pathological” role of the mtDNA T3308C mutation...
Academic Article
Analysis of HLA and disease susceptibility: chromosome 6 genes and sex influence long-QT phenotype.
Academic Article
Analysis of mtDNA variation in African populations reveals the most ancient of all human continent-specific haplogroups
Academic Article
Asian affinities and continental radiation of the four founding Native American mitochondrial DNAs
Academic Article
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification
Academic Article
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
Academic Article
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage
Academic Article
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.
Academic Article
CFTR gene variant IVS8-5T in disseminated bronchiectasis.
Academic Article
COII/tRNALys intergenic 9bp deletion and other mitochondrial DNA markers clearly reveal that the Tharus (Southern Nepal) have oriental affinities
Academic Article
Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP
Academic Article
Chromosomal localization of the genes coding the human alpha 3, beta 4 and alpha 5 neuronal acetylcholine receptor subunits.
Academic Article
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum
Abstract
Clinical and molecular phenotype of aicardi-goutieres syndrome.
Academic Article
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA–haplogroup background
Academic Article
Cloning, localization and sequencing of three human intrachromosomal telomere-like repetitions: new hypothesis about their origin.
Conference Paper
Combined use of biallelic and microsatellite Y-chromosome polymorphisms to infer affinities among African populations
Academic Article
Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.
Academic Article
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.
Academic Article
Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes
Academic Article
Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancy.
Academic Article
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation
Academic Article
Detection of the mtDNA 14484 mutation on an African-specific haplotype. Implications about its role in causing Leber hereditary optic neuropathy
Academic Article
Different genetic components in the Ethiopian population, identified by mtDNA and Y-chromosome polymorphisms.
Academic Article
Differential structuring of human populations for homologous X and Y microsatellite loci
Academic Article
Disease-associated genetic variation in human mitochondrial protein
Academic Article
Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome
Academic Article
Do the four clades of the mtDNA haplogroup L2 evolve at different rates?
Academic Article
ELOVL5 Mutations Cause Spinocerebellar Ataxia 38
Academic Article
Erratum: Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia (The American Journal of Human Genetics (2019) 104(4) (767–773), (S0002929719300977), (10.1016/j.ajhg.2019.03.001))
Academic Article
Ethiopians and Khoisan share the deepest clades of the human Y-chromosome phylogeny
Academic Article
Extensive female-mediated gene flow from sub-Saharan Africa into Near Eastern Arab populations
Academic Article
FMR1 in global populations
Academic Article
Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides
Academic Article
Founding mothers of Jewish communities: geographically separated Jewish groups were independently founded by very few female ancestors
Academic Article
Friedreich\'s ataxia in Italian families: genetic homogeneity and linkage disequilibrium with the marker loci D9S5 and D9S15
Academic Article
Further comments on the characterization of founder Amerindian mitochondrial haplotypes - Reply
Academic Article
Genetic heterogeneity of autosomal dominant nonsyndromic macrothrombocytopenias
Abstract
Genetic studies on the Senegal population. I. Mitochondrial DNA polymorphisms
Academic Article
Genetic studies on the Tharu population of Nepal: Restriction endonuclease polymorphisms of mitochondrial DNA
Academic Article
Genetic susceptibility in cervical dystonia: Confirmation of a role for the dopamine D5 receptor gene
Academic Article
Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.
Academic Article
Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484
Academic Article
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation.
Academic Article
Human genetic affinities for Y-chromosome P49a,f/TaqI haplotypes show strong correspondence with linguistics.
Academic Article
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects
Academic Article
In search of geographical patterns in European mitochondrial DNA
Academic Article
Incidence, origin, and predictive model for the detection and Clinical Management of segmental aneuploidies in human embryos
Academic Article
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.
Academic Article
Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome
Academic Article
Juvenile hemochromatosis locus maps to chromosome 1q
Academic Article
Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36
Academic Article
Meta-analysis of gene-level associations for rare variants based on single-variant statistics
Academic Article
Mitochondrial DNA and the origin of Caucasians. Identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region
Academic Article
Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation
Academic Article
Mitochondrial DNA haplogroups in Native Americans
Academic Article
Mitochondrial DNA signals of late glacial recolonization of Europe from Near Eastern refugia
Academic Article
Mitochondrial DNA variation of aboriginal Siberians reveals distinct genetic affinities with Native Americans
Academic Article
Mitochondrial DNA variation of modern Tuscans supports the Near Eastern origin of Etruscans.
Academic Article
Mitochondrial haplogroup U5b3: a distant echo of the Epipaleolithic in Italy and the legacy of the early Sardinians
Academic Article
Mitochondrial tRNAThr mutations and lethal infantile mitochondrial myopathy
Academic Article
Molecular genetic analysis of 21-OH mutated HLA haplotypes in disorders of puberty
Conference Poster
Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial
Academic Article
MtDNA haplogroups and frequency patterns in Europe
Academic Article
Mutation in SOX9, the gene responsible for campomelic dysplasia and autosomal sex reversal
Academic Article
Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination.
Academic Article
Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy
Academic Article
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome
Academic Article
Mutations in the 5’UTR of the ankirin repeat domain 26 gene (ANKRD26) cause an autosomal dominant form of inherited thrombocytopenia (THC2)
Academic Article
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment
Academic Article
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome
Academic Article
Mutations in the nonmuscle myosin heavy chain IIA gene (MYH9) result in the diverse phenotypes of the May-Hegglin anomaly, Fechtner and Sebastian syndromes.
Abstract
Normal variation at the myotonic dystrophy locus in global human populations
Academic Article
Olfactory receptor gene clusters, genomic inversion polymorphisms, and common chromosome rearrangements.
Academic Article
Origin and diffusion of mtDNA haplogroup X
Academic Article
Origin and evolution of Native American mtDNA variation: a reappraisal
Academic Article
Origin, diffusion, and differentiation of Y-chromosome haplogroups E and J: inferences on the neolithization of Europe and later migratory events in the Mediterranean area
Academic Article
PARK6 is a major locus in early-onset parkinsonism
Abstract
Pathological significance of the mtDNA C0XIII mutation at nucleotide pair 9438 in Leber hereditary optic neuropathy
Academic Article
Phylogeographic analysis of haplogroup E3b (E-M215) Y chromosomes reveals multiple migratory events within and out of Africa
Academic Article
Phylogeography of Y-chromosome haplogroup I reveals distinct domains of prehistoric gene flow in Europe
Academic Article
Population genetics of red cell enzymes in Pygmies: a conclusive account
Academic Article
Pre-Caucasoid and Caucasoid genetic features of the Indian population, revealed by mtDNA polymorphisms
Academic Article
Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum
Academic Article
Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.
Academic Article
Saami and Berbers – an unexpected mitochondrial DNA link
Academic Article
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.
Academic Article
Studies on African pygmies. V. Red cell acid phosphatase polymorphism in Babinga pygmies: high frequency of ACPR allele
Academic Article
Subtyping of human red cell phosphoglucomutase locus 1 (PGM1) polymorphism: a third PGM1(1) allele common among Twa Pygmies from North Rwanda
Academic Article
Subtyping of phosphoglucomutase locus 1 (PGM1) polymorphism in some populations of Rwanda: description of variant phenotypes, "haplotype" frequencies, and linkage disequilibrium data
Academic Article
The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness
Academic Article
The African diaspora: mitochondrial DNA and the Atlantic slave trade
Academic Article
The Gene for May-Hegglin Anomaly Localizes to a <1-Mb Region on Chromosome 22q12.3-13.1.
Academic Article
The emerging tree of West Eurasian mtDNAs: a synthesis of control-region sequences and RFLPs
Academic Article
The impact of clinical genome sequencing in a global population with suspected rare genetic disease
Academic Article
The matrilineal ancestry of Ashkenazi Jewry: portrait of a recent founder event
Academic Article
The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool
Academic Article
The phylogeography of mitochondrial DNA haplogroup L3g in Africa and the Atlantic slave trade. Reply to Bortolini et al.
Academic Article
The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications
Academic Article
Toward localization of the Werner syndrome gene by linkage disequilibrium and ancestral haplotyping: lessons learned from analysis of 35 chromosomes 18p11.1-21.1 markers.
Academic Article
Tracing European founder lineages in the Near Eastern mtDNA pool
Academic Article
Translation Initiator EIF4G1 Mutations in Familial Parkinson Disease
Academic Article
Transmission of a fully functional human neocentromere through three generation
Academic Article
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia
Academic Article
Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers.
Academic Article
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
Academic Article
Where West meets East: the complex mtDNA landscape of the Southwest and Central Asian corridor
Academic Article
Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language
Academic Article
mtDNA analysis reveals a major late Paleolithic population expansion from southwestern to northeastern Europe
Academic Article
mtDNA and Y chromosome-specific polymorphisms in modern Ojibwa: implications about the origin of their gene pool
Academic Article
mtDNA and Y-chromosome polymorphisms in four Native American populations from southern Mexico
Academic Article
mtDNA haplogroup X: An ancient link between Europe/Western Asia and North America?
Academic Article
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