autosomal

It is usually inherited as an autosomal dominant trait, although autosomal recessive and X-linked inheritance are seen less commonly.

Spinal muscular atrophy in childhood is one of the most common neuromuscular disorders with an autosomal recessive mode of inheritance.

Multiple osteochondromas can occur either spontaneously or in an autosomal dominant disorder known as hereditary multiple exostoses .

They also found adermatoglyphia to be autosomal dominant, meaning only one parent needs to pass on the mutation for the child to show it.

Genetic analysis indicated that the CVD character is controlled by an autosomal recessive gene with 100% penetrance.

An aneuploid state in which a third homologous chromosome is present in addition to the normal autosomal pair is called trisomy.

This type of inheritance is called autosomal recessive inheritance.

It is a common occurrence in dogs and is thought to be a sex-limited autosomal recessive trait.

Similar to other anxiety disorders, it may be inherited as an autosomal dominant trait.

Objective: To investigate the clinical features of an autosomal recessive inherited ataxia pedigree and exclude known causal genes.

ABSTRACT: Objective To elucidate the pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris (IV).

Recent studies have revealed mechanistic parallels between imprinted X-chromosome inactivation and autosomal imprinting.

Two rare, inherited forms have been reported in cattle, both characterized by autosomal recessive transmission.

Conclusion: The genetics of the true pattern in human palmar hypothenar area may belong to autosomal dominant inheritance.

Von Hippel-Lindau (VHL) disease is an autosomal, dominantly inherited, tumour syndrome.

Dense incisors (din) is a new autosomal recessive mutation in the mouse that interferes with complete eruption of the incisors.

Certain autosomal translocations in the heterozygous state can be fully viable .

Some members of the patients family were similarly affected and indicated an autosomal dominant trait of inheritance.

Congenital adrenal hyperplasia is a genetic disorder transmitted by autosomal recessive pattern.

Results The inheritance pattern of the ADAAA family was autosomal dominant with complete penetrance.

Genetic counseling and ANKRD26 mutation analysis should be offered to patients with autosomal-dominant thrombocytopenia.

After full investigation of available data a suspected autosomal dominant inheritance pattern of PS could not be confirmed.

Objective To detect mutation in the rhodopsin gene ( RHO ) in a Chinese family with autosomal dominant retinitis pigmentosa (ADRP).

Objective To analyze the occurrence character of autosomal dominant familial polycystic kidney.

Harlequin ichthyosis (HI)is a severe subtype of autosomal recessive congenital ichthyoses (ARCI).

The condition is passed along genetically as an autosomal dominant trait.

Autosomal trisomy is a common cause of human miscarriage, malformations and learning disability.

CBAS usually occurred by autosomal recessive inheritance, due to various enzymes defect in bile acid synthesis.

The disease is autosomal-recessive and linked to the X-chromosome, so that men whose mothers are carriers of the gene manifest the disease.

This disorder is inherited as an autosomal dominant trait .

Dentinogenesis imperfecta (DI) is a kind of mesodermal defect inherited in a simple autosomal dominant mode.

With pedigree analysis, the genetic mode of the disease in the family are autosomal dominant inheritance.

The Alzheimer in this ancestry appears as autosomal dominant genetic disease .

A Six-generation Family with Autosomal Dominant Deafness Passed Along: Possibly A New Locus?

We describe twin brothers and father with autosomal dominant spondylo-epiphyseal dysplasia (SED) tarda.

A family tree study revealed an autosomal mode of inheritance with good penetrance.

WD is a common autosomal recessive inherited neuropathy, whose only pathogenic gene is ATP7B.

Inheritance is autosomal dominant in almost all cases.

Dermoid sinus is a genetic, autosomal skin condition in dogs.

We characterized a 3 generation family with autosomal dominant aniridia.

It can be autosomal dominant, autosomal recessive, or X-linked mode of inheritance.

In this experiment, bovine autosomal-DNA primer can prevent false appearance caused by embryonic sample losing. 3.

Phenylketonuria (PKU) is one kinds of autosomal recessive disease caused by phenylalanine hydroxylase(PAH) gene mutation.

Benign familial pemphigus ( HHD ) is a rare autosomal dominant disease caused by mutations in the ATP2C1gene encoding a novel Ca2 pump.

As part of the process, the team genotyped 1261 autosomal single-nucleotide polymorphisms in 829 individuals from 225 families.

Results In all 612 cases, 13 cases showed autosomal translocation, and chromosomal polymorphism in 8 cases.

Aim: To study the clinicopathologic manifestation of a pedigree of autosomal dominant benign congenital muscular dystrophy (BCMD).

We think that the vitiligo in the family history is caused by autosomal dominant inheritance.

Expression of hepatocyte growth factor and its receptor in autosomal dominant polycystic kidney disease cyst-lining epithelial cells

The cerebral hemodynamics in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

Pathological changes of vessels in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

A Suspected Case Involving Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Mapping of a pedigree with autosomal dominant inherited congenital sutural cataract

Retroperitoneal laparoscopic cyst decompression in patients with autosomal dominant polycystic kidney disease

Initial gene mapping of a pedigree with autosomal dominant congenital nuclear cataract

The clinical and genetic characteristics of autosomal recessive juvenile Parkinsonism in a Chinese family

Analysis of the mutation of rhodopsin gene in an inbreeding family with autosomal recessive retinitis pigmentosa

Mutation Hot Spots Screening in Two Autosomal Dominant Congenital Cataract Pedigrees

Clinical evaluation of laparoscopic renal cyst decortication for patients with autosomal dominant polycystic kidney disease

Differential gene expression pattern between autosomal dominant polycystic kidney tissue and normal kidney tissue: a DNA microarray study

Screening mutation of crystallin genes in a Chinese family with autosomal dominant congenital cataract

Treatments of autosomal dominant polycystic kidney disease with unroof decompression and intracystic drainage

Relationship between Renal Volume and Clinical Presentations in Autosomal Dominant Polycystic Kidney Disease

Gene mapping of a pedigree with autosomal dominant congenital cataract

Clinical and Genetic Features of Chinese Kindreds with Autosomal Dominant Hereditary Gingival Fibromatosis

Genetic heterogeneity and phenotypes of autosomal dominant polycystic kidney disease in Chinese Han nationality

Significance of Biological Rhythm on Selective Nocte Treatment on Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Exclusive mapping for all known locus linked with autosomal dominant congenital cataract in a Chinese family

A Family History of Congenital Fibrosis of the Extraocular Muscle with Autosomal Dominant Inheritance

Comparison of laparoscopic and open cyst decortication for autosomal dominant polycystic kidney disease

The Proportion and Clinical Feature of Duchenne Muscular Dystrophy With Autosomal Recessive Inheritance

Mapping of Pathogenic Genes in a Pedigree with Autosomal Dominant Ichthyosis Vulgaris

Relationship between genotype and phenotype of autosomal dominant polycystic kidney disease

Characteristics of autosomal dominance inheritance

Whole blood direct PCR-endonuclease method for rapid diagnosis of autosomal recessive spinal muscular atrophy in children

Genotype and phenotype analyses of three families with autosomal recessive juvenile parkinsonism

Detection of differentially expressed genes in human autosomal dominant polycystic kidney tissue

Clinical significance of gross hematuria in autosomal dominant polycystic kidney patients

Identification of genes causing autosomal-dominant congenital cataract

Keratinocyte growth factor promoting proliferation of cyst lining-epitheliar cells in autosomal dominant polycystic kidney disease

A recurrent rhodopsin gene missense mutation in a Chinese family with autosomal dominant retinitis pigmentosa

Mutation of autosomal dominant neurohypophyseal diabetes insipidus in a Chinese pedigree

Linkage analysis of three families with autosomal dominant thin basement membrane nephropathy

Genetic characteristic in pedigrees of autosomal dominant hereditary hearing loss

Balanced autosomal rearrangement in abnormal individual

Autosomal dominant polycystic kidney disease: challenge and strategy

Expression and secretion of SPARC in body fluid of patients with autosomal dominant polycystic kidney disease

Mutation analysis of genes associated with autosomal recessive in early-onset parkinsonism

Discussion on the value of cystic decompression operation on autosomal dominant polycystic kidney disease

Progress in Diagnosis and Treatment of Autosomal Dominant Polycystic Nephritis

Genetic linkage analysis of localizing an autosomal dominant retinitis pigmentosa gene in a family

Application of autosomal STR genetic markers in siblings identification

Screening Results of Rhodopsin Gene Mutations in Four Chinese Autosomal Dominant Retinitis Pigmentosa Families

TH gene mutation in Chinese patients with autosomal recessive dopa-responsive dystonia

Application of Autosomal STR Genetic Markers in Sibling Identification

Screening of candidate genes in a family with autosomal dominant retinitis pigmentosa

Autosomal dominant polycystic kidney disease, ADPKD

Analysis of clinical characteristics of 271 patients with autosomal dominant polycystic kidney disease

Analysis of the mutations of rhodopsin gene in autosomal dominant retinitis pigmentosa family

Hot issues in current research of autosomal dominant polycystic kidney disease

Autosomal dominant nocturnal frontal lobe epilepsy

A study on PARKIN gene in three pedigrees with autosomal recessive early-onset Parkinson's disease

Genetic linkage and mutation analysis of the candidate genes in a big family with autosomal dominant retinitis pigmentosa

Detection of the mutations of autosomal dominant polycystic kidney disease gene 2 in Chinese

Exclusive identification of gene loci of autosomal dominant nonsyndromic hearing loss

Autosomal Anomalies of Malformed Spermatozoa in Human

A Family History of Vitiligo with Autosomal Dominant Inheritance

Linkage analysis of 8 chromosome in a Chinese family with autosomal dominant retinitis pigmentosa

For a certain autosomal locus

A New Study Progress of Molecular Genetics in Autosomal Dominant Retinitis Pigmentosa

Progress in the research of disease genes in autosomal dominant retinitis pigmentosa

Linkage analysis of chromosome 3 in three Chinese families with autosomal dominant retinitis pigmentosa

ADLO Autosomal dominant late onset muscular dystrophy