Results 171 to 180 of about 129,912 (210)

Genotype-phenotype correlation in myotonic dystrophy

Clinical Genetics, 1998
Myotonic dystrophy (DM) is caused by a mutation in the length of a trinucleotide (CTG) repeat in the 3' untranslated region of the my‐otonin protein kinase gene located on chromosome 19q13.3. The normal gene has between 5 and 36 CTG trinucleotide repeats, whereas minimally affected individuals have 50 copies and severely affected DM‐patients have ...
E B, Gharehbaghi-Schnell, J, Finsterer, I, Korschineck, B, Mamoli, B R, Binder   +4 more
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Updated Genotype-Phenotype Correlations in TSC

Seminars in Pediatric Neurology, 2023
Paolo Curatolo MD, Romina Moavero MD, Denis Roberto, Federica Graziola Seminars in Pediatric Neurology Volume 22, Issue 4, December 2015, Pages 259-273 Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the development of widespread hamartomatous lesions in various organs, including brain, skin, kidneys, heart, and eyes.
Paolo, Curatolo, Marina, Trivisano, Nicola, Specchio   +2 more
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Genotype – phenotype correlation in FAP

Amyloid, 2012
Familial Amyloidotic Polyneuropathy (FAP) was initially classified into different types based on the clinical presentation. FAP Type I included patients with predominant upper limb neuropathy, while Type II patients had initial lower limb involvement. Further confusing the issue was the description of FAP Types III and IV, which proved to result from ...
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Genotype/phenotype correlations in familial hypercholesterolaemia

Current Opinion in Lipidology, 1998
It is now possible to identify the specific gene defect in the majority of patients with familial hypercholesterolaemia. A potential benefit of this knowledge, in addition to helping with family screens, is to be able to predict the future clinical course. In order to do this, detailed genotype/phenotype correlation studies are required.
Nicholls, P., Young, I.S., Graham, C.A.
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Phenotype-genotype correlation in haemochromatosis subjects

Human Genetics, 1997
Haemochromatosis is a common autosomal recessive genetic disorder of iron metabolism. A candidate gene was recently identified (HLA-H) and two amino acid substitutions (C282Y and H63D) were characterized. Haemochromatosis probands (n = 478) from Brittany were selected from their iron status markers, primarily serum iron, serum ferritin and transferrin ...
C, Mura, J B, Nousbaum, P, Verger, M T, Moalic, O, Raguenes, A Y, Mercier, C, Ferec   +6 more
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Genotype–phenotype correlation: Familial Parkinson disease

Neuropathology, 2003
Kindreds with Mendelian inheritance of Parkinson disease (PD) have been known since a long time ago. Nine loci have been mapped in familial PD by linkage study and four causative genes have been cloned. This paper discusses Park 1 and Park 2, the identification of which has brought about many advances in the studies on pathomechanism of PD ...
Hideo, Mori, Nobutaka, Hattori, Yoshikuni, Mizuno   +2 more
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Primary hyperoxaluria: genotype-phenotype correlation.

Journal of nephrology, 2003
Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disorder caused by a deficiency of alanine-glyoxylate aminotransferase (AGT), which is encoded by a single copy gene (AGXT). Molecular diagnosis was used in conjunction with clinical, biochemical and enzymological data to evaluate genotype-phenotype correlation.
Pirulli, Doroti, Marangella, Martino, Amoroso, Antonio   +2 more
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Microdeletion 2q23.3q24.1: Exploring genotype‐phenotype correlations

Congenital Anomalies, 2015
AbstractWe report a case of a 13‐year‐old girl with a 5.4Mb de novo deletion, encompassing bands 2q23.3q24.1, identified by array‐comparative genomic hybridization. She presented with minor facial and digital anomalies, mild developmental delay during infancy, and behavioral disorders.
Donatella, Milani, Caterina, Sabatini, Francesca Maria Paola, Manzoni, Paola Francesca, Ajmone, Claudia, Rigamonti, Michela, Malacarne, Mauro, Pierluigi, Simona, Cavani, Maria Antonella, Costantino   +8 more
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Genotype-phenotype correlations in Noonan syndrome

The Journal of Pediatrics, 2004
To study genotype-phenotype correlations in a cohort of clinically well-characterized pediatric patients with Noonan syndrome (NS). Study design Fifty-seven unrelated patients with the clinical diagnosis of NS ascertained according to standardized inclusion criteria were prospectively enrolled.
Zenker, Martin, Buheitel, Gernot, Rauch, Ralf, Koenig, Rainer, Bosse, Kirstin, Kress, Wolfram, Tietze, Hans-Ulrich, Doerr, Helmuth-Guenther, Hofbeck, Michael, Singer, Helmut, Reis, André, Rauch, Anita   +11 more
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Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation

European Journal of Medical Genetics, 2015
Chanarin-Dorfman syndrome is an autosomal recessive lipid storage disease characterized by non-bullous congenital ichthyosiform erythroderma, and involvement of the liver, muscles and central nervous system due to a multisystemic accumulation of neutral lipids in various types of cells.
Banu Guzel, Nur, Pinar, Gencpinar, Ayse, Yuzbasıoglu, Serap Dokmeci, Emre, Ercan, Mihci   +4 more
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