Search for dissertations about: "FIHP"

Found 4 swedish dissertations containing the word FIHP.

2. 1. Molecular mechanisms of tumor development in hyperparathyroidism

   Author : Filip Farnebo; Karolinska Institutet; Karolinska Institutet; []
   Keywords : parathyroid; hyperparathyroidism; MEN 1; FIHP; loss of heterozygosity; comparative genomic hybridization; mutation analysis; in situ hybridization;

   Abstract : Loss of heterozygosity (LOH) analysis and comparative genomic hybridization (CGH) were used in an attempt to identify recurrent chromosomal alterations in different types of parathyroid tumors. These included familial and sporadic, benign and malignant, as well as primary, irradiation associated and secondary tumors. READ MORE

4. 2. Multiple endocrine neoplasia type 1 : clinical and molecular characterization

   Author : Bin Tean Teh; Karolinska Institutet; Karolinska Institutet; []
   Keywords : MEN1; PYGM; loss of heterozygosity; thymic carcinoid; HPT-JT; HRPT2; FIHP; familial acromegaly; tumor suppressor gene.;

   Abstract : This thesis is based on clinicopathologic and genetic studies of MEN1 and MEN1-like syndromes. Linkage to the MENl locus in chromosome 11q13 was confirmed in the largest known MEN1 family and 5 Swedish MEN1 families. An accuracy of >99. READ MORE

5. 3. Genetic background of familial primary hyperparathyroidism

   Author : Andrea Villablanca; Karolinska Institutet; Karolinska Institutet; []
   Keywords : Parathyroid; primary hyperparathyroidism; MEN 1; HPT-JT; FIHP; Menin; Parafibromin; tumour suppressor gene; loss of heterozygosity; mutation analysis; immunohistochemistry;

   Abstract : In this thesis the aim has been to identify and characterise gene(s) involved in familial primary hyperparathyroidism (PHPT). In multiple endocrine neoplasia type 1 (MEN 1), the hyperparathyroidism-jaw tumour syndrome (HPT-JT) and familial isolated hyperparathyroidism (FIHP), in which primary hyperparathyroidism is seen in most or almost all gene carriers. READ MORE

6. 4. Application of genetic analyses in studies of syndromic and non-syndromic cleft lip and palate

   Author : Fung Ki Wong; Karolinska Institutet; Karolinska Institutet; []
   Keywords : Linkage analysis; cleft lip; cleft palate; van der Woude syndrome; popliteal pterygium syndrome; hyperthyroidism; candidate gene;

   Abstract : Linkage analysis is one of the first and essential steps in the localization of human disease genes. In this study, the method was first applied in mapping of the disease in two families with isolated hyperparathyroidism (FIHP) to the hyperparathyroidism-jaw tumor (HPT-JT) syndrome locus at 1q21-q32. READ MORE