𝔖 Bobbio Scriptorium
✦   LIBER   ✦

PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI

✍ Scribed by Lucilene Arilho Ribeiro; Jeffrey C. Murray; Antonio Richieri-Costa

Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
70 KB
Volume
140A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Language skills and neuropsychological p
Language skills and neuropsychological performance in patients with SHH mutations and a holoprosencephaly-like phenotype
✍ Giselda Santiago; Dagma Venturini Marques Abramides; Luciana Paula Maximino De-V πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 112 KB πŸ‘ 1 views

## Abstract Here, we evaluate linguistic skills and neuropsychological performance in a sample of patients with SHH mutations and a holoprosencephaly (HPE)‐like phenotype, a minor form of classic HPE. Our findings suggest that patients with SHH mutations and a HPE‐like phenotype have normal cogniti

Two new recurrent nucleotide mutations i
Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: About one-fifth are recurrent
✍ Jarmo KΓΆrkkΓΆ; Helena Kuivaniemi; Petteri Paassilta; Jiapiao Zhuang; Gerard Tromp πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 239 KB πŸ‘ 2 views

Previous observations on mutations causing osteogenesis imperfecta (0I) suggested that unrelated patients had private mutations. Here preliminary studies on two patients with type I OI indicated that some mutations in the COL1A1 gene for type I procollagen cannot be detected by analyses of cDNAs. Th