Clinical Genetics
SCIE-ISI SCOPUS (1970-2025)
0009-9163
1399-0004
Anh Quốc
Cơ quản chủ quản: Wiley-Blackwell Publishing Ltd , WILEY
Lĩnh vực:
Genetics (clinical)Genetics
Phân tích ảnh hưởng
Các bài báo tiêu biểu
Genetic and clinical aspects of Charcot‐Marie‐Tooth's disease
Tập 6 Số 2 - Trang 98-118 - 1974
The prevalence of Charcot‐Marie‐Tooth's disease (CMT) was studied in Western
Norway, an area with several isolated districts with a population of 725,000
(1968). Three hereditary types were distinguished in the area: autosomal
dominant CMT with an estimated prevalence of 36/100,000; X‐linked recessive CMT
with a prevalence of 3.6/100,000; and autosomal recessive CMT with a prevalence
of 1.4/100,00...
Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications
Tập 76 Số 1 - Trang 1-18 - 2009
More than one million patients will manifest colorectal cancer (CRC) this year
of which, conservatively, approximately 3% (∼30,700 cases) will have Lynch
syndrome (LS), the most common hereditary CRC predisposing syndrome. Each case
belongs to a family with clinical needs that require genetic counseling, DNA
testing for mismatch repair genes (most frequently MLH1 or MSH2) and screening
for CRC. Co...
Gene/environment causes of cleft lip and/or palate
Tập 61 Số 4 - Trang 248-256 - 2002
Craniofacial anomalies, and in particular cleft lip and palate, are major human
birth defects with a worldwide frequency of 1 in 700 and substantial clinical
impact. A wide range of studies in developmental biology has contributed to a
better knowledge of how both genes and environmental exposures impact head
organogenesis. Specific causes have now been identified for some forms of cleft
lip and p...
Niemann–Pick disease type C
Tập 64 Số 4 - Trang 269-281 - 2003
Niemann‐Pick disease type C (NPC) is an autosomal recessive neurovisceral lipid
storage with a wide spectrum of clinical phenotypes. At the cellular level, the
disorder is characterized by accumulation of unesterified cholesterol and
glycolipids in the lysosomal/late endosomal system. Approximatively 95% of
patients have mutations in the NPC1 gene (mapped at 18q11) which encodes a large
membrane g...
Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP‐met30)
Tập 40 Số 3 - Trang 242-246 - 1991
Familial amyloidotic polyneuropathy (FAP) is an autosomal dominant inherited
disorder characterized by progressive peripheral and autonomic neuropathy,
associated with neural and systemic amyloid deposits. The amyloid fibrils
contain a variant transthyretin (TTR) molecule (TTR met30), over 90% of which is
produced in the liver. After liver transplantation in two patients with severe
symptomatic FA...
PALB2 mutations in European familial pancreatic cancer families
Tập 78 Số 5 - Trang 490-494 - 2010
Slater EP, Langer P, Niemczyk E, Strauch K, Butler J, Habbe N, Neoptolemos JP,
Greenhalf W, Bartsch DK. PALB2 mutations in European pancreatic cancer
families.Recently, PALB2 was reported to be a new pancreatic cancer
susceptibility gene as determined by exomic sequencing, as truncating PALB2
mutations were identified in 3 of 96 American patients with familial pancreatic
cancer (FPC). Representing...
Mitochondrial deafness
Tập 71 Số 5 - Trang 379-391 - 2007
Non‐syndromic deafness can be caused by mutations in both nuclear and
mitochondrial genes. More than 50 nuclear genes have been shown to be involved
in non‐syndromic hearing loss, but mutations in mitochondrial DNA (mtDNA) might
also cause hearing impairment. As mitochondria are responsible for oxidative
phosphorylation, the primary energy‐producing system in all eukaryotic cells,
mitochondrial dy...
Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)
Tập 20 Số 2 - Trang 152-160 - 1981
A study of 73 patients with the Sanfilippo syndrome (36 patients with Sanfilippo
A disease, 23 with Sanfilippo B disease and 14 with Sanfilippo C disease)
revealed both intertype and intratype variability. The course of the disease was
relatively mild in Sanfilippo B disease and dementia was less severe. Type A
showed earlier onset with more severe clinical manifestations and an earlier age
at dea...
The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes
Tập 78 Số 5 - Trang 457-463 - 2010
Stratakis CA, Tichomirowa MA, Boikos S, Azevedo MF, Lodish M, Martari M, Verma
S, Daly AF, Raygada M, Keil MF, Papademetriou J, Drori‐Herishanu L, Horvath A,
Tsang KM, Nesterova M, Franklin S, Vanbellinghen J‐F, Bours V, Salvatori R,
Beckers A. The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations
in causing pituitary adenomas in a large cohort of children, adolescents, and
patients...
The molecular genetics of Usher syndrome
Tập 63 Số 6 - Trang 431-444 - 2003
Association of sensorineural deafness and progressive retinitis pigmentosa with
and without a vestibular abnormality is the hallmark of Usher syndrome and
involves at least 12 loci among three different clinical subtypes. Genes
identified for the more commonly inherited loci are USH2A (encoding usherin),
MYO7A (encoding myosin VIIa), CDH23 (encoding cadherin 23), PCDH15 (encoding
protocadherin 15)...