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AMERICAN JOURNAL OF HUMAN GENETICS

Rivista

Codice:

E007642

ISSN:

0002-9297

Dati Generali

Dati Generali

Pubblicazioni (122)

Ordina Pubblicazioni:

ascendente
decrescente

: Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity

Articolo

A "Copernican" reassessment of the human mitochondrial DNA tree from its root

Articolo

A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter-Tonz Syndrome

Articolo

A back migration from Asia to sub-Saharan Africa is supported by high-resolution analysis of human Y-chromosome haplotypes

Articolo

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

Articolo

A mitochondrial DNA variant, identified in Leber's Hereditary Optic Neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I

Articolo

A signal, from human mtDNA, of postglacial recolonization in Europe

Articolo

A synopsis of the entire Y-chromosome European gene pool using biallelic polymorphisms

Contributo in Atti di convegno

A view of the neolithic demic diffusion in Europe through two Y chromosome-specific markers.

Articolo

About the "Asian"-specific 9-bp deletion of mtDNA ...

Articolo

About the “pathological” role of the mtDNA T3308C mutation...

Articolo

Analysis of HLA and disease susceptibility: chromosome 6 genes and sex influence long-QT phenotype.

Articolo

Analysis of mtDNA variation in African populations reveals the most ancient of all human continent-specific haplogroups

Articolo

Asian affinities and continental radiation of the four founding Native American mitochondrial DNAs

Articolo

Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification

Articolo

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

Articolo

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage

Articolo

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.

Articolo

CFTR gene variant IVS8-5T in disseminated bronchiectasis.

Articolo

COII/tRNALys intergenic 9bp deletion and other mitochondrial DNA markers clearly reveal that the Tharus (Southern Nepal) have oriental affinities

Articolo

Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP

Articolo

Chromosomal localization of the genes coding the human alpha 3, beta 4 and alpha 5 neuronal acetylcholine receptor subunits.

Articolo

Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum

Abstract

Clinical and molecular phenotype of aicardi-goutieres syndrome.

Articolo

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA–haplogroup background

Articolo

Cloning, localization and sequencing of three human intrachromosomal telomere-like repetitions: new hypothesis about their origin.

Contributo in Atti di convegno

Combined use of biallelic and microsatellite Y-chromosome polymorphisms to infer affinities among African populations

Articolo

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.

Articolo

Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.

Articolo

Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes

Articolo

Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancy.

Articolo

Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation

Articolo

Detection of the mtDNA 14484 mutation on an African-specific haplotype. Implications about its role in causing Leber hereditary optic neuropathy

Articolo

Different genetic components in the Ethiopian population, identified by mtDNA and Y-chromosome polymorphisms.

Articolo

Differential structuring of human populations for homologous X and Y microsatellite loci

Articolo

Disease-associated genetic variation in human mitochondrial protein

Articolo

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome

Articolo

Do the four clades of the mtDNA haplogroup L2 evolve at different rates?

Articolo

ELOVL5 Mutations Cause Spinocerebellar Ataxia 38

Articolo

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))

Articolo

Ethiopians and Khoisan share the deepest clades of the human Y-chromosome phylogeny

Articolo

Extensive female-mediated gene flow from sub-Saharan Africa into Near Eastern Arab populations

Articolo

FMR1 in global populations

Articolo

Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides

Articolo

Founding mothers of Jewish communities: geographically separated Jewish groups were independently founded by very few female ancestors

Articolo

Friedreich\'s ataxia in Italian families: genetic homogeneity and linkage disequilibrium with the marker loci D9S5 and D9S15

Articolo

Further comments on the characterization of founder Amerindian mitochondrial haplotypes - Reply

Articolo

Genetic heterogeneity of autosomal dominant nonsyndromic macrothrombocytopenias

Abstract

Genetic studies on the Senegal population. I. Mitochondrial DNA polymorphisms

Articolo

Genetic studies on the Tharu population of Nepal: Restriction endonuclease polymorphisms of mitochondrial DNA

Articolo

Genetic susceptibility in cervical dystonia: Confirmation of a role for the dopamine D5 receptor gene

Articolo

Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.

Articolo

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

Articolo

Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation.

Articolo

Human genetic affinities for Y-chromosome P49a,f/TaqI haplotypes show strong correspondence with linguistics.

Articolo

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects

Articolo

In search of geographical patterns in European mitochondrial DNA

Articolo

Incidence, origin, and predictive model for the detection and Clinical Management of segmental aneuploidies in human embryos

Articolo

Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

Articolo

Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome

Articolo

Juvenile hemochromatosis locus maps to chromosome 1q

Articolo

Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36

Articolo

Meta-analysis of gene-level associations for rare variants based on single-variant statistics

Articolo

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

Articolo

Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation

Articolo

Mitochondrial DNA haplogroups in Native Americans

Articolo

Mitochondrial DNA signals of late glacial recolonization of Europe from Near Eastern refugia

Articolo

Mitochondrial DNA variation of aboriginal Siberians reveals distinct genetic affinities with Native Americans

Articolo

Mitochondrial DNA variation of modern Tuscans supports the Near Eastern origin of Etruscans.

Articolo

Mitochondrial haplogroup U5b3: a distant echo of the Epipaleolithic in Italy and the legacy of the early Sardinians

Articolo

Mitochondrial tRNAThr mutations and lethal infantile mitochondrial myopathy

Articolo

Molecular genetic analysis of 21-OH mutated HLA haplotypes in disorders of puberty

Poster

Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial

Articolo

MtDNA haplogroups and frequency patterns in Europe

Articolo

Mutation in SOX9, the gene responsible for campomelic dysplasia and autosomal sex reversal

Articolo

Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination.

Articolo

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy

Articolo

Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome

Articolo

Mutations in the 5’UTR of the ankirin repeat domain 26 gene (ANKRD26) cause an autosomal dominant form of inherited thrombocytopenia (THC2)

Articolo

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Articolo

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

Articolo

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

Articolo

Olfactory receptor gene clusters, genomic inversion polymorphisms, and common chromosome rearrangements.

Articolo

Origin and diffusion of mtDNA haplogroup X

Articolo

Origin and evolution of Native American mtDNA variation: a reappraisal

Articolo

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

Articolo

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

Articolo

Phylogeographic analysis of haplogroup E3b (E-M215) Y chromosomes reveals multiple migratory events within and out of Africa

Articolo

Phylogeography of Y-chromosome haplogroup I reveals distinct domains of prehistoric gene flow in Europe

Articolo

Population genetics of red cell enzymes in Pygmies: a conclusive account

Articolo

Pre-Caucasoid and Caucasoid genetic features of the Indian population, revealed by mtDNA polymorphisms

Articolo

Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum

Articolo

Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.

Articolo

Saami and Berbers – an unexpected mitochondrial DNA link

Articolo

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.

Articolo

Studies on African pygmies. V. Red cell acid phosphatase polymorphism in Babinga pygmies: high frequency of ACPR allele

Articolo

Subtyping of human red cell phosphoglucomutase locus 1 (PGM1) polymorphism: a third PGM1(1) allele common among Twa Pygmies from North Rwanda

Articolo

Subtyping of phosphoglucomutase locus 1 (PGM1) polymorphism in some populations of Rwanda: description of variant phenotypes, "haplotype" frequencies, and linkage disequilibrium data

Articolo

The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness

Articolo

The African diaspora: mitochondrial DNA and the Atlantic slave trade

Articolo

The Gene for May-Hegglin Anomaly Localizes to a <1-Mb Region on Chromosome 22q12.3-13.1.

Articolo

The emerging tree of West Eurasian mtDNAs: a synthesis of control-region sequences and RFLPs

Articolo

The impact of clinical genome sequencing in a global population with suspected rare genetic disease

Articolo

The matrilineal ancestry of Ashkenazi Jewry: portrait of a recent founder event

Articolo

The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool

Articolo

The phylogeography of mitochondrial DNA haplogroup L3g in Africa and the Atlantic slave trade. Reply to Bortolini et al.

Articolo

The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications

Articolo

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.

Articolo

Tracing European founder lineages in the Near Eastern mtDNA pool

Articolo

Translation Initiator EIF4G1 Mutations in Familial Parkinson Disease

Articolo

Transmission of a fully functional human neocentromere through three generation

Articolo

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

Articolo

Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers.

Articolo

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

Articolo

Where West meets East: the complex mtDNA landscape of the Southwest and Central Asian corridor

Articolo

Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language

Articolo

mtDNA analysis reveals a major late Paleolithic population expansion from southwestern to northeastern Europe

Articolo

mtDNA and Y chromosome-specific polymorphisms in modern Ojibwa: implications about the origin of their gene pool

Articolo

mtDNA and Y-chromosome polymorphisms in four Native American populations from southern Mexico

Articolo

mtDNA haplogroup X: An ancient link between Europe/Western Asia and North America?

Articolo

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