[Syndactyly: suggestions for an aid in genetic counseling]

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.

Molecular psychiatry·2016

Twenty-five novel mutations including duplications in the ATP7A gene.

Clinical genetics·2011

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism.

Molecular psychiatry·2009

Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.

Neurogenetics·2005

Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia.

Neurology·2005

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.

Journal of medical genetics·2005

[Ultrasonic prenatal diagnosis of the Jarcho-Levin syndrome].

Journal de genetique humaine·1989

[Genetic mapping of chromosome X: known localizations].

Journal de genetique humaine·1989

[Animal models of gene therapy].

Journal de genetique humaine·1989

[Frontonasal dysplasia or the median cleft face syndrome: a case report].

Journal de genetique humaine·1989

[Linkage disequilibrium and DNA markers associated with the gene for cystic fibrosis].

Journal de genetique humaine·1989

[F.G. syndrome: a rare and/or extremely polymorphic syndrome?].

Journal de genetique humaine·1989

The dynamics of ciliogenesis in prepubertal mouse meiosis reveals new clues about testis maturation.

Frontiers in cell and developmental biology·2026

Somatic Cells in the Anuran Testis.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation·2026

Mixed evidence that dosage sensitive genes drive global dosage compensation in flour beetles.

Genome biology and evolution·2026

[Genetic analysis of a fetus with Short-rib thoracic dysplasia 8 with or without polydactyly due to variants of DYNC2I1 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics·2026

NR5A1 gene variants: variable phenotypes, new variants, and genotype-phenotype correlations.

Frontiers in endocrinology·2026

[Genetic Dystonias].

Medicina·2026

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[Syndactyly: suggestions for an aid in genetic counseling]

Related Concept Videos

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.

Twenty-five novel mutations including duplications in the ATP7A gene.

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism.

Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.

Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia.

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.

[Ultrasonic prenatal diagnosis of the Jarcho-Levin syndrome].

[Genetic mapping of chromosome X: known localizations].

[Animal models of gene therapy].

[Frontonasal dysplasia or the median cleft face syndrome: a case report].

[Linkage disequilibrium and DNA markers associated with the gene for cystic fibrosis].

[F.G. syndrome: a rare and/or extremely polymorphic syndrome?].

The dynamics of ciliogenesis in prepubertal mouse meiosis reveals new clues about testis maturation.

Somatic Cells in the Anuran Testis.

Mixed evidence that dosage sensitive genes drive global dosage compensation in flour beetles.

[Genetic analysis of a fetus with Short-rib thoracic dysplasia 8 with or without polydactyly due to variants of DYNC2I1 gene].

NR5A1 gene variants: variable phenotypes, new variants, and genotype-phenotype correlations.

[Genetic Dystonias].

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[Syndactyly: suggestions for an aid in genetic counseling]

Related Concept Videos

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