Topic: Male

Journal: American Journal of Human Genetics

Documents

A list of abstracts that contain a topic of "Male" and a journal name of "American Journal of Human Genetics".

Mutation in Trmu Related to Transfer Rna Modification Modulates the Phenotypic Expression of the Deafness-associated Mitochondrial 12s Ribosomal Rna Mutations.

PMID: 16826519
The Reduced Expression of the Hadh2 Protein Causes X-linked Mental Retardation, Choreoathetosis, and Abnormal Behavior.

PMID: 17236142
Mutations in the Embryonal Subunit of the Acetylcholine Receptor (Chrng) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome.

PMID: 16826531
The Genetics of Congenital Amusia (Tone Deafness): a Family-aggregation Study.

PMID: 17701903
Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia-absent Radius Syndrome.

PMID: 17236129
A Large-scale Genetic Association Study Confirms Il12b and Leads to the Identification of Il23r As Psoriasis-risk Genes.

PMID: 17236132
Loss-of-function Mutations in the Keratin 5 Gene Lead to Dowling-degos Disease.

PMID: 16465624
Sequencing of the Reannotated Lmnb2 Gene Reveals Novel Mutations in Patients with Acquired Partial Lipodystrophy.

PMID: 16826530
Molecular Population Genetics of the Gene Encoding the Human Fertilization Protein Zonadhesin Reveals Rapid Adaptive Evolution.

PMID: 17033959
Mutations in the Brwd3 Gene Cause X-linked Mental Retardation Associated with Macrocephaly.

PMID: 17668385
Orofacial Cleft Risk is Increased with Maternal Smoking and Specific Detoxification-gene Variants.

PMID: 17160896
Absence of a Paternally Inherited Foxp2 Gene in Developmental Verbal Dyspraxia.

PMID: 17033973
A Mitochondrial Stratigraphy for Island Southeast Asia.

PMID: 17160892
Notch2 Mutations Cause Alagille Syndrome, a Heterogeneous Disorder of the Notch Signaling Pathway.

PMID: 16773578
Disruption of Pof1b Binding to Nonmuscle Actin Filaments is Associated with Premature Ovarian Failure.

PMID: 16773570
Increased Sensitivity of the Neuronal Nicotinic Receptor Alpha 2 Subunit Causes Familial Epilepsy with Nocturnal Wandering and Ictal Fear.

PMID: 16826524
Admixture Mapping of an Allele Affecting Interleukin 6 Soluble Receptor and Interleukin 6 Levels.

PMID: 17357077
Bladder Cancer Predisposition: a Multigenic Approach to Dna-repair and Cell-cycle-control Genes.

PMID: 16465622
The Novel Neuronal Ceroid Lipofuscinosis Gene Mfsd8 Encodes a Putative Lysosomal Transporter.

PMID: 17564970
Fine-mapping Chromosome 20 in 230 Systemic Lupus Erythematosus Sib Pair and Multiplex Families: Evidence for Genetic Epistasis with Chromosome 16q12.

PMID: 16642431
The Origin of Efnb1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males.

PMID: 16685650
Cis- and Trans-acting Gene Regulation is Associated with Osteoarthritis.

PMID: 16642435

Medical Journals

Topic: Male

Journal: American Journal of Human Genetics

Documents

Mutation in Trmu Related to Transfer Rna Modification Modulates the Phenotypic Expression of the Deafness-associated Mitochondrial 12s Ribosomal Rna Mutations.

The Reduced Expression of the Hadh2 Protein Causes X-linked Mental Retardation, Choreoathetosis, and Abnormal Behavior.

Mutations in the Embryonal Subunit of the Acetylcholine Receptor (Chrng) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome.

The Genetics of Congenital Amusia (Tone Deafness): a Family-aggregation Study.

Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia-absent Radius Syndrome.

A Large-scale Genetic Association Study Confirms Il12b and Leads to the Identification of Il23r As Psoriasis-risk Genes.

Loss-of-function Mutations in the Keratin 5 Gene Lead to Dowling-degos Disease.

Sequencing of the Reannotated Lmnb2 Gene Reveals Novel Mutations in Patients with Acquired Partial Lipodystrophy.

Molecular Population Genetics of the Gene Encoding the Human Fertilization Protein Zonadhesin Reveals Rapid Adaptive Evolution.

Mutations in the Brwd3 Gene Cause X-linked Mental Retardation Associated with Macrocephaly.

Orofacial Cleft Risk is Increased with Maternal Smoking and Specific Detoxification-gene Variants.

Absence of a Paternally Inherited Foxp2 Gene in Developmental Verbal Dyspraxia.

A Mitochondrial Stratigraphy for Island Southeast Asia.

Notch2 Mutations Cause Alagille Syndrome, a Heterogeneous Disorder of the Notch Signaling Pathway.

Disruption of Pof1b Binding to Nonmuscle Actin Filaments is Associated with Premature Ovarian Failure.

Increased Sensitivity of the Neuronal Nicotinic Receptor Alpha 2 Subunit Causes Familial Epilepsy with Nocturnal Wandering and Ictal Fear.

Admixture Mapping of an Allele Affecting Interleukin 6 Soluble Receptor and Interleukin 6 Levels.

Bladder Cancer Predisposition: a Multigenic Approach to Dna-repair and Cell-cycle-control Genes.

The Novel Neuronal Ceroid Lipofuscinosis Gene Mfsd8 Encodes a Putative Lysosomal Transporter.

Fine-mapping Chromosome 20 in 230 Systemic Lupus Erythematosus Sib Pair and Multiplex Families: Evidence for Genetic Epistasis with Chromosome 16q12.

The Origin of Efnb1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males.

Cis- and Trans-acting Gene Regulation is Associated with Osteoarthritis.

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