✦ LIBER ✦

Prenatal diagnosis of malignant osteopetrosis in Bedouin families by linkage analysis

✍ Scribed by Hanna Shalev; Anat Mishori-Dery; Joseph Kapelushnik; Asher Moser; Val C. Sheffield; Ann McClain; Rivka Carmi

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 57 KB
Volume: 21
Category: Article
ISSN: 0197-3851
DOI: 10.1002/1097-0223(200103)21:3<183::aid-pd28>3.0.co;2-m

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Prenatal diagnosis of X-linked hypohidro

Prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia by linkage analysis

✍ Zonana, Jonathan ;Schinzel, Albert ;Upadhyaya, Meena ;Thomas, Nicholas S. T. ;An 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 397 KB 👁 2 views

Feasibility of prenatal diagnosis of lys

Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: a case report

✍ Maria Pia Sperandeo; Anna Buoninconti; Annalisa Passariello; Iris Scala; Andrea 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 105 KB 👁 1 views

Lysinuric protein intolerance (LPI) is a rare autosomal recessive defect of cationic amino acid transport (CAA), relatively common in Finland and Italy. After weaning, LPI patients present poor feeding, vomiting and failure to thrive. A severe pulmonary complication and episodes of metabolic imbalan

First prenatal diagnosis by mutation ana

First prenatal diagnosis by mutation analysis in a family with Sjögren–Larsson syndrome

✍ A. Sillén; G. Holmgren; C. Wadelius 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 33 KB 👁 1 views

Sjögren-Larsson syndrome (SLS) is a rare, autosomal recessive disorder characterized by congenital ichthyosis, mental retardation, and spastic diplegia or tetraplegia. The disorder has the highest incidence in the north of Sweden and most of the cases are caused by a C943T mutation in the FALDH gene

Molecular analysis of the insulin recept

Molecular analysis of the insulin receptor gene for prenatal diagnosis of leprechaunism in two families

✍ C. Desbois-Mouthon; E. Girodon; N. Ghanem; M. Caron; A. Pennerath; P. Conteville 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 107 KB 👁 2 views

Leprechaunism is a rare autosomal recessive disorder characterized by marked intrauterine and postnatal growth retardation, severe insulin resistance, and altered glucose homeostasis. This syndrome is related to mutations in the insulin receptor (IR) gene that impair the transmission of the insulin

Use of linkage data obtained in single f

Use of linkage data obtained in single families: Prenatal diagnosis of a new X-linked mental retardation syndrome

✍ Mulley, John C. ;Gedeon, Agi K. ;Wilson, Sue ;Haan, Eric A. 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 381 KB 👁 2 views

Prenatal diagnosis by FISH in a family w

Prenatal diagnosis by FISH in a family with Pelizaeus–Merzbacher disease caused by duplication of the PLP gene

✍ Karen Woodward; Rodger Palmer; Kathleen Rao; Sue Malcolm 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 161 KB 👁 1 views

A diagnosis of Pelizaeus-Merzbacher disease (MIM 312080) was made in a young boy. No mutation in the coding region of the proteolipid protein (PLP) gene had been found. The boy's maternal aunt came for prenatal diagnosis when 16+ weeks pregnant and carrying a male fetus. Samples were tested for dupl