✦ LIBER ✦

Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type

✍ Scribed by B. Malmgren; S. Lindskog; A. Elgadi; S. Norgren

Publisher: Springer
Year: 2004
Tongue: English
Weight: 460 KB
Volume: 114
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s00439-004-1084-z

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Clinical, histopathological and genetic

Clinical, histopathological and genetic studies in a family with fatal familial insomnia

✍ Xiao-Hong Shi; Jun Han; Jin Zhang; Qi Shi; Jian-Ming Chen; Sheng-Li Xia; Zhi-Qia 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 403 KB

We compared clinical data from two related Chinese patients with fatal familial insomnia (FFI) and collected information about their pedigree. The clinical features in the two cases were similar and included initial progressive insomnia and sympathetic activation, which persisted throughout the clin

Two novelCYP7B1mutations in Italian fami

Two novelCYP7B1mutations in Italian families with SPG5: a clinical and genetic study

✍ Chiara Criscuolo; Alessandro Filla; Giovanni Coppola; Carlo Rinaldi; Rosa Carbon 📂 Article 📅 2009 🏛 Springer 🌐 English ⚖ 298 KB

Unusual clinical, laboratory, and muscle

Unusual clinical, laboratory, and muscle histopathological findings in a family with myotonic dystrophy type 2

✍ Cory Toth; Chris Dunham; Oksana Suchowersky; Jillian Parboosingh; Keith Brownell 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 234 KB

A clinical and genetic study in a large

A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6

✍ Hiroki Takahashi; Kinya Ishikawa; Takeshi Tsutsumi; Hiroto Fujigasaki; Akihiro K 📂 Article 📅 2004 🏛 Nature Publishing Group 🌐 English ⚖ 237 KB

Ectrodactyly with aplasia of long bones

Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: Clinical and genetic analysis

✍ Mohammed Naveed; Mahmoud T. Al-Ali; Sabita K. Murthy; Sarah Al-Hajali; Najib Al- 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 268 KB 👁 2 views

Clinical, pathological, and genetic feat

Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families

✍ Hisaomi Kawai; Masashi Akaike; Makoto Kunishige; Toshio Inui; Katsuhito Adachi; 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 469 KB 👁 3 views

We report on the clinical, pathological, and genetic features of 7 patients with limb-girdle muscular dystrophy type 2A (LGMD2A) from three Japanese families. The mean age of onset was 9.7 ± 3.1 years (mean ± SD), and loss of ambulance occurred at 38.5 ± 2.1 years. Muscle atrophy was predominant in