X-linked mental retardation: caveats in genetic counselling

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Familial colloid cysts of the third ventricle.

Clinical genetics·2004

Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.

Clinical genetics·2004

Tremor, ataxia and dementia in older men may indicate a carrier of the fragile X syndrome.

Clinical genetics·2003

PAK3 mutation in nonsyndromic X-linked mental retardation.

Nature genetics·1998

Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome.

Journal of medical genetics·1997

Defects of blastogenesis.

American journal of medical genetics·2002

Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

American journal of medical genetics·2002

Limb anomalies: Developmental and evolutionary aspects.

American journal of medical genetics·2002

Molecular etiology of gut malformations and diseases.

American journal of medical genetics·2002

Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome).

American journal of medical genetics·2002

Three cases of tetrasomy 9p.

American journal of medical genetics·2002

The Role of Sex Steroids, Sex Hormone-binding Globulin and Leptin in the Development of Pubertal Gynecomastia and its Persistence into Adulthood.

Journal of clinical research in pediatric endocrinology·2026

Two distributed enhancers of Sox17 additively regulate the developmental fate of bipotential ventral pancreato-biliary progenitor cells.

Development (Cambridge, England)·2026

Dlk1-deficient mice achieve puberty despite low body weight and low levels of leptin and kisspeptin.

Journal of neuroendocrinology·2026

Amyloid precursor protein dosage normalization rescues neurogenesis and Alzheimer's Disease phenotypes associated with Down Syndrome.

Medical research archives·2026

Evidence Regarding Metachromatic Leukodystrophy Newborn Screening.

Pediatrics·2026

A descriptive study of early eyelid morphogenesis in a large-scale human embryo collection.

Cells, tissues, organs·2026

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