𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees

✍ Scribed by Rossetti, Sandro (author);Torra, Roser (author);Coto, Eliecer (author);Consugar, Mark (author);Kubly, Vickie (author);Málaga, Serafin (author);Navarro, Mercedes (author);El-Youssef, Mounif (author);Torres, Vicente E. (author);Harris, Peter C. (author)

Publisher
Blackwell Publishing Inc.
Year
2003
Tongue
English
Weight
988 KB
Volume
64
Category
Article
ISSN
0085-2538

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A complete mutation screen of PKHD1 in a
A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees
✍ Rossetti, Sandro (author);Torra, Roser (author);Coto, Eliecer (author);Consugar, 📂 Article 📅 2003 🏛 Blackwell Publishing Inc. 🌐 English ⚖ 988 KB

## Background: Autosomal-recessive polycystic kidney disease (arpkd) is an important neonatal nephropathy characterized by fusiform dilation of collecting ducts, congenital hepatic fibrosis, and in some cases caroli's disease. the arpkd gene, pkhd1, has recently been identified. herein we describe

PKHD1 mutations in autosomal recessive p
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)
✍ Carsten Bergmann; Jan Senderek; Fabian Küpper; Frank Schneider; Christian Dornia 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 277 KB

## Communicated by Jurgen Horst Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of childhood renal-and liverrelated morbidity and mortality. The clinical spectrum is widely variable. About 30 to 50% of affected individuals die in the neonatal period, while others survive

Algorithm for efficient PKHD1 mutation s
Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD)
✍ Carsten Bergmann; Fabian Küpper; Christian Dornia; Frank Schneider; Jan Senderek 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 392 KB

## Communicated by A. Jamie Cuticchia Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of childhood renal-and liverrelated morbidity and mortality with variable disease expression. While most cases manifest peri-/neonatally with a high mortality rate in the first month of

PKHD1 mutations in families requesting p
PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD)
✍ Carsten Bergmann; Jan Senderek; Frank Schneider; Christian Dornia; Fabian Küpper 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 163 KB

## Communicated by Jurgen Horst Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common hereditary renal cystic diseases in children. The clinical spectrum ranges from stillbirth and neonatal demise to survival into adulthood. In a given family, however, patients usually di

Prenatal diagnosis of autosomal recessiv
Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): Molecular genetics, clinical experience, and fetal morphology
✍ Zerres, Klaus; M�cher, Gabi; Becker, Jutta; Steinkamm, Carsten; Rudnik-Sch�nebor 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 67 KB 👁 2 views

Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common hereditary renal cystic diseases and has a high infant mortality. Prenatal diagnosis using fetal sonography can be unreliable, especially in early pregnancy. The ARPKD locus has been mapped to proximal chromosome 6p allo