Results 241 to 250 of about 305,611 (291)

Genotype-Phenotype Correlation of GNAS Gene: Review and Disease Management of a Hotspot Mutation. [PDF]

Int J Mol Sci
Cipriano L, Ferrigno R, Andolfo I, Russo R, Cioffi D, Savanelli MC, Pellino V, Klain A, Iolascon A, Piscopo C.   +9 more
europepmc   +1 more source

Genotype-phenotype correlation in a cohort of pediatric patients with autoinflammatory diseases carrying <i>NOD2</i> variants. [PDF]

Front Immunol
Natale MF, Celani C, Federici S, Passarelli C, Perrone C, Marasco E, De Benedetti F, Insalaco A.   +7 more
europepmc   +1 more source

Genotype-Phenotype Correlation Insights Through Molecular Modeling Analysis in a Patient with Loeys-Dietz Syndrome. [PDF]

Genes (Basel)
Stathori G, Koniari E, Vlachakis D, Papanikolaou E, Chrousos GP, Yapijakis C.   +5 more
europepmc   +1 more source

Genotype-phenotype correlation of ocular von Hippel-Lindau disease in Koreans. [PDF]

PLoS One
Hwang S, Kang SW, Kim JW, Kim SJ.
europepmc   +1 more source

Clinical Characteristics and Genotype-phenotype Correlation in Turkish Patients with a Diagnosis of Resistance to Thyroid Hormone Beta [PDF]

J Clin Res Pediatr Endocrinol
Büyükyılmaz G, Çavdarlı B, Koca SB, Toksoy Adıgüzel K, Topaloğlu O, Aydın C, Hepsen S, Çakal E, Semerci Gündüz N, Boyraz M, Gürbüz F, Demirbilek H.   +11 more
europepmc   +1 more source

Some of the next articles are maybe not open access.

Related searches:

Genotype – phenotype correlation in FAP

Amyloid: the International Journal of Experimental and Clinical Investigation: the Official Journal of the International Society of Amyloidosis, 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 ...
exaly   +3 more sources

Genotype-phenotype correlations in phenylketonuria

Clinica Chimica Acta, 1993
Genotyping of the phenylalanine hydroxylating system offers a new way of characterizing patients with phenylalanine hydroxylase (PAH) deficiency. This paper investigates the power of genotyping as a parameter for differential diagnosis and as a measure of the risk factor of brain damage in well-treated patients with phenylketonuria (PKU).
F K, Trefz, P, Burgard, T, König, B, Goebel-Schreiner, U, Lichter-Konecki, D, Konecki, E, Schmidt, H, Schmidt, H, Bickel   +8 more
openaire   +2 more sources

Genotype/phenotype correlations in aniridia

American Journal of Ophthalmology, 1998
To detect and characterize mutations in cases of familial and sporadic aniridia in Maritime Canada, and to look for indications of genotype/phenotype correlation within the cohort.Twelve consecutive and unrelated patients (probands) who had total or nearly complete absence of irides, and four affected relatives, were recruited from Maritime Canada ...
S K, Gupta, I, De Becker, F, Tremblay, D L, Guernsey, P E, Neumann   +4 more
openaire   +2 more sources

The genotype–phenotype correlation in Pompe disease

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2012
AbstractPompe disease is an autosomal recessive lysosomal glycogen storage disorder that is caused by acid α‐glucosidase (GAA) deficiency and is due to pathogenic sequence variations in the corresponding GAA gene. The correlation between genotypes and phenotypes is strict, in that patients with the most severe phenotype, classic infantile Pompe disease,
Haan, Marian, Hoogeveen - Westerveld, Marianne, van der Ploeg, Ans, Reuser, Arnold   +3 more
openaire   +3 more sources

DUOXS defects: Genotype-phenotype correlations

Annales d'Endocrinologie, 2011
Congenital hypothyroidism (CH) is the most common congenital endocrine disorder, accounting for up to 1:1500 newborns per year. CH can be related to defects in either formation and migration of the thyroid gland (dysgenesis) or thyroid hormone synthesis. The pathogenesis of dysgenetic CH is still largely unknown. On the contrary, several mutations have
L. Fugazzola, M. Muzza, G. Weber, P. Beck Peccoz, L. Persani   +4 more
openaire   +3 more sources