A5004215620- RNA regulation and disease
- Cell Adhesion Molecules Research
- Hair Growth and Disorders
- Congenital gastrointestinal and neural anomalies
- Genomics and Rare Diseases
- Advanced biosensing and bioanalysis techniques
- Cystic Fibrosis Research Advances
- Hereditary Neurological Disorders
- Alkaline Phosphatase Research Studies
- dental development and anomalies
- Cerebrovascular and genetic disorders
- Intestinal Malrotation and Obstruction Disorders
- RNA Research and Splicing
- Genomic variations and chromosomal abnormalities
- T-cell and B-cell Immunology
- Neurological diseases and metabolism
- BRCA gene mutations in cancer
- Skin and Cellular Biology Research
- Protein Tyrosine Phosphatases
- Oral and Maxillofacial Pathology
- Cellular Mechanics and Interactions
- PI3K/AKT/mTOR signaling in cancer
- Educational and Social Studies
- Neurogenetic and Muscular Disorders Research
- Signaling Pathways in Disease
RELX Group (Netherlands)
2009
Rockefeller University
1997-1999
Columbia University
1996-1998
Institute of Neurological Sciences
1998
Quaid-i-Azam University
1998
FibroGen (United States)
1998
University of Siena
1997
Istituti di Ricovero e Cura a Carattere Scientifico
1995-1997
University of Milan
1994-1995
Vita-Salute San Raffaele University
1994-1995
There are several forms of hereditary human hair loss, known collectively as alopecias, the molecular bases which entirely unknown. A kindred with a rare, recessively inherited type alopecia universalis was used to search for locus by homozygosity mapping, and linkage established in 6-centimorgan interval on chromosome 8p12 (the logarithm odds favoring score 6.19). The homolog murine gene, hairless , localized this radiation hybrid missense mutation found affected individuals. Human encodes...
SummaryCowden syndrome (CS) is an autosomal dominant disorder associated with the development of hamartomas and benign tumors in a variety tissues, including skin, thyroid, breast, endometrium, brain. It has been suggested that women CS are at increased risk for breast cancer. A locus was recently defined on chromosome 10 12 families, resulting identification critical interval, between markers D10S215 D10S541. More recently, affected individuals four families have shown to germ-line...
Hereditary motor and sensory neuropathy (HMSN) with focally folded myelin sheaths, or Charcot-Marie-Tooth type 4B (CMT4B), is a distinct clinical entity belonging to the heterogeneous group of autosomal recessive demyelinating neuropathies. We first described large pedigree CMT4B, which showed high consanguinity level an pattern inheritance. Through conventional linkage analysis, we excluded locus segregating in this any known genes responsible for other HMSNs. Using homozygosity mapping...
Hereditary motor and sensory neuropathy with focally folded myelin sheaths, or Charcot-Marie-Tooth disease type 4B (CMT4B), is a distinct clinical genetic entity belonging to the heterogeneous group of autosomal recessive demyelinating neuropathies. We previously described large pedigree CMT4B found evidence linkage chromosome 11q23. now describe second, unrelated family in which two individuals were affected CMT4B. exclude locus segregating this smaller from 11q23 region as well most...
Neuronal Intestinal Dysplasia type B (NID B) is a complex alteration of the enteric nervous system belonging to group intestinal dysganglionoses which may involve rectum, colon, and small intestine. Second only Hirschsprung disease (HSCR), NID one most frequent causes chronic constipation pseudo-obstructive dysmotility. Since often associated with HSCR point mutations in RET proto-oncogene have been identified patients, we analyzed two pedigrees investigate if might cause also phenotype....
Abstract In cystic fibrosis (CF), the most common mutation, delta F508 (a three‐base‐pair deletion) accounts for ca. 70% of mutations in worldwide population. The majority other (more than 350 reported so far to Genetic Analysis Consortium) have been detected single cases, thus rendering quite cumbersome a molecular diagnostic approach identification CF chromosomes. As an alternative, linkage analysis based on intragenic polymorphism can be useful prenatal diagnosis and CF‐carrier detection,...
Arginine519-cysteine mutation in the type II procollagen gene (COL2A1) is known to be associated with mild spondyloepiphyseal dysplasia (SED) and precocious generalized osteoarthritis (OA). Five families have now been identified this mutation. To determine whether a common founder was responsible for these five families, we defined haplotype of mutation-bearing chromosome using four restriction fragment length polymorphisms (RFLPs) 3′-untranslated region VNTR. Haplotype frequencies were...
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a recently described inherited disorder. The pathologic gene maps on chromosome 19. clinical spectrum of the disease consists recurrent strokes, migraine, transient ischemic attacks, mood changes, dementia. We report genetically assessed CADASIL family atypical presentations epileptic seizures. In two asymptomatic members there were early brain abnormalities MRI. Our expands suggests that...