J. Parma

发表

Localization of adenylyl and guanylyl cyclase in rat brain by in situ hybridization: comparison with calmodulin mRNA distribution

I. Matsuoka, G. Giuili, M. Poyard, 1992, The Journal of neuroscience : the official journal of the Society for Neuroscience.

GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone.

M. Wegner, J. Parma, M. Abramowicz, 2005, The Journal of clinical endocrinology and metabolism.

Mutation analysis of the Epac--Rap1 signaling pathway in cold thyroid follicular adenomas.

A. Allgeier, J. Parma, J. Dumont, 2001, European journal of endocrinology.

Somatic Mutations in the Thyrotropin Receptor Gene Cause Hyperfunctioning Thyroid Adenomas

J. Parma, J. Mockel, J. Dumont, 1994 .

Nephrogenic syndrome of inappropriate antidiuresis in adults: high phenotypic variability in men and women from a large pedigree.

J. Parma, G. Vassart, G. Decaux, 2007, Journal of the American Society of Nephrology : JASN.

Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland.

J. Parma, M. Abramowicz, G. Vassart, 1997, The Journal of clinical investigation.

Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies.

J. Parma, G. Vassart, S. Biesterfeld, 2008, The Journal of clinical endocrinology and metabolism.

Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid.

J. Parma, M. Abramowicz, S. Costagliola, 2004, The Journal of clinical endocrinology and metabolism.

Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8.

J. Parma, M. Abramowicz, S. Costagliola, 2001, The Journal of clinical endocrinology and metabolism.

Hyperfunctioning malignant thyroid nodule in an 11-year-old girl: pathologic and molecular studies.

J. Parma, C. Deal, G. Vassart, 2000, The Journal of pediatrics.

A familial case of congenital hypothyroidism caused by a homozygous mutation of the thyrotropin receptor gene.

J. Parma, G. Vassart, P. Rodien, 2001, Thyroid : official journal of the American Thyroid Association.

TSH receptor and disease

F. Cetani, J. Parma, M. Tonacchera, 1996, Clinical endocrinology.

Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene.

J. Parma, P. Kopp, J. Dumont, 1995, The New England journal of medicine.

Leydig cell tumors in children: contrasting clinical, hormonal, anatomical, and molecular characteristics in boys and girls.

J. Parma, H. Sartelet, G. Vassart, 2012, The Journal of pediatrics.

A rare variant, I852M, of the RET proto‐oncogene in a patient with medullary thyroid carcinoma at age 20 years

J. Parma, M. Abramowicz, G. Vassart, 2001, Human mutation.

Familial gestational hyperthyroidism caused by a mutant thyrotropin receptor hypersensitive to human chorionic gonadotropin.

J. Parma, S. Costagliola, G. Vassart, 1998, The New England journal of medicine.

Two autonomous nodules of a patient with multinodular goiter harbor different activating mutations of the thyrotropin receptor gene.

J. Parma, J. Hermans, J. Dumont, 1997, The Journal of clinical endocrinology and metabolism.

Response to challenge with gonadotropin-releasing hormone agonist in a mother and her two sons with a constitutively activating mutation of the luteinizing hormone receptor--a clinical research center study.

J. Parma, B. Rich, S. Refetoff, 1996, The Journal of clinical endocrinology and metabolism.

Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia.

S. Swillens, F. Cetani, J. Parma, 1996, The Journal of clinical endocrinology and metabolism.

Somatic mutations causing constitutive activity of the thyrotropin receptor are the major cause of hyperfunctioning thyroid adenomas: identification of additional mutations activating both the cyclic adenosine 3',5'-monophosphate and inositol phosphate-Ca2+ cascades.

S. Swillens, J. Parma, M. Tonacchera, 1995, Molecular endocrinology.

Single-nucleotide polymorphism genotyping by melting analysis of dual-labeled probes: examples using factor V Leiden and prothrombin 20210A mutations.

J. Parma, G. Vassart, H. El Housni, 2003, Clinical chemistry.

Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus.

M. Andrien, E. Dupont, J. Parma, 1994, The Journal of clinical investigation.

Pathology of the TSH receptor.

J. Parma, M. Abramowicz, J. Dumont, 1999, Journal of pediatric endocrinology & metabolism : JPEM.

Congenital central isolated hypothyroidism caused by a homozygous mutation in the TSH-beta subunit gene.

J. Parma, G. Vassart, S. Refetoff, 2000, Thyroid : official journal of the American Thyroid Association.

Predictive factors for pancreatic cancer in patients with chronic pancreatitis in association with K-ras gene mutation.

J. Parma, J. Devière, V. De Maertelaer, 2004, Endoscopy.

The G Protein–coupled Receptor Family and One of Its Members, the TSH Receptor a

P. Vanderhaeghen, M. Parmentier, J. Parma, 1995, Annals of the New York Academy of Sciences.

Germline mutations in the thyrotropin receptor gene cause non–autoimmune autosomal dominant hyperthyroidism

A. Allgeier, J. Parma, J. Dumont, 1994, Nature Genetics.

Somatic and germline mutations of the TSH receptor gene in thyroid diseases.

S. Swillens, J. Parma, M. Tonacchera, 1995, The Journal of clinical endocrinology and metabolism.

The TSH receptor and thyroid diseases.

R. Paschke, J. Parma, G. Vassart, 1996, Bailliere's clinical endocrinology and metabolism.

Structural organization of the 5' region of the thyroglobulin gene. Evidence for intron loss and "exonization" during evolution.

J. Parma, D. Christophe, G. Vassart, 1987, Journal of molecular biology.

The hypothyroidism in an inbred kindred with congenital thyroid hormone and glucocorticoid deficiency is due to a mutation producing a truncated thyrotropin receptor.

H. Mandel, R. Gershoni-baruch, J. Parma, 1999, Thyroid : official journal of the American Thyroid Association.

Sequence of a human brain adenylyl cyclase partial cDNA: evidence for a consensus cyclase specific domain.

R. Barouki, M. Poyard, D. Stengel, 1991, Biochemical and biophysical research communications.

Gene rearrangement and Chernobyl related thyroid cancers

H. Höfler, G. Williams, G. Chiappetta, 2000, British Journal of Cancer.

TSH Receptor Mutations and Thyroid Disease

Marc Abramowicz, Jacques E. Dumont, J. Parma, 1998, Trends in Endocrinology & Metabolism.

Lethal respiratory failure and mild primary hypothyroidism in a term girl with a de novo heterozygous mutation in the TITF1/NKX2.1 gene.

J. Parma, S. Costagliola, A. Payot, 2009, The Journal of clinical endocrinology and metabolism.

A nonsense mutation causes hereditary goitre in the Afrikander cattle and unmasks alternative splicing of thyroglobulin transcripts.

J. Parma, G. Vassart, L. Mercken, 1987, Proceedings of the National Academy of Sciences of the United States of America.

Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas

J. Parma, J. Mockel, J. Dumont, 1993, Nature.

Positive control of proliferation by the cyclic AMP cascade: An oncogenic mechnism of hyper-functional adenoma

M. Parmentier, C. Ledent, J. Parma, 1995, Journal of endocrinological investigation.

Different chromosomal localization of two adenylyl cyclase genes expressed in human brain

R. Barouki, D. Stengel, J. Parma, 1992, Human Genetics.

Serotonin 5-HT(2B) receptor loss of function mutation in a patient with fenfluramine-associated primary pulmonary hypertension.

M. Parmentier, J. Parma, M. Abramowicz, 2003, Cardiovascular research.

Long-Term Follow-Up of an Infant with Thyrotoxicosis due to Germline Mutation of the TSH Receptor Gene (Met453Thr)

J. Parma, G. Vassart, U. Feldt-Rasmussen, 1999, Hormone Research in Paediatrics.

Apparent congenital athyreosis contrasting with normal plasma thyroglobulin levels and associated with inactivating mutations in the thyrotropin receptor gene: are athyreosis and ectopic thyroid distinct entities?

J. Parma, C. Deal, G. Vassart, 1998, The Journal of clinical endocrinology and metabolism.

Thyrotoxic adenoma followed by atypical hyperthyroidism due to struma ovarii: clinical and genetic studies.

S. Khoo, J. Parma, E. Hamoir, 2004, European journal of endocrinology.

Constitutive activation of the TSH receptor by spontaneous mutations affecting the N‐terminal extracellular domain

J. Parma, J. Dumont, S. Costagliola, 1997, FEBS letters.

Identification and functional characterization of two new somatic mutations causing constitutive activation of the thyrotropin receptor in hyperfunctioning autonomous adenomas of the thyroid.

R. Paschke, J. Parma, M. Tonacchera, 1994, The Journal of clinical endocrinology and metabolism.

Resistance to thyrotropin (TSH) in three families is not associated with mutations in the TSH receptor or TSH.

Jun Xie, J. Parma, P. Beck‐Peccoz, 1997, The Journal of clinical endocrinology and metabolism.

Constitutively active receptors as a disease-causing mechanism

R. Paschke, J. Parma, M. Tonacchera, 1994, Molecular and Cellular Endocrinology.

Diversity and prevalence of somatic mutations in the thyrotropin receptor and Gs alpha genes as a cause of toxic thyroid adenomas.

P. Rocmans, J. Parma, J. Hermans, 1997, The Journal of clinical endocrinology and metabolism.

Molecular genetics of thyroid diseases.

C. Ledent, J. Parma, J. Dumont, 1994, European Journal of Endocrinology.

A germline mutation of the thyrotropin receptor gene associated with thyrotoxicosis and mitral valve prolapse in a Chinese family.

J. Parma, G. Vassart, C. Rajasoorya, 1999, The Journal of clinical endocrinology and metabolism.

Oncogenic mutations in the thyrotropin receptor of autonomously functioning thyroid nodules in the Japanese population.

J. Vandekerckhove, J. Parma, J. Dumont, 2002, European journal of endocrinology.

TSH Receptor Mutations and Thyroid

J. Parma, M. Abramowicz, J. Dumont, 1998 .

Oncogenic mutations in thyroid adenoma: methodological criteria.

F. Cetani, J. Parma, M. Tonacchera, 1996, European journal of endocrinology.

Relative contribution of Ki-ras gene analysis and brush cytology during ERCP for the diagnosis of biliary and pancreatic diseases.

J. Parma, J. Devière, V. Bourgeois, 1998, Gastrointestinal endoscopy.

Mutations of the TGF‐β type II receptor BMPR2 in pulmonary arterial hypertension

J. Carlquist, M. Humbert, W. Seeger, 2006, Human mutation.

Structure, expression and regulation of the thyroglobulin gene

J. Parma, A. Bacolla, A. Leriche, 1985, Molecular and Cellular Endocrinology.

A WOMAN WITH RECURRENT "INFECTIONS" SINCE BIRTH - A NEW MEVALONATE KINASE MUTATION

J. Parma, J. Goffard, C. Farber, 2011, Acta clinica Belgica.

[Medical genetics service].

J. Parma, M. Abramowicz, G. Vassart, 2002, Revue medicale de Bruxelles.

11 The cAMP in thyroid

A. Allgeier, M. Parmentier, C. Ledent, 1997 .

The thyrotropin receptor and the regulation of thyrocyte function and growth.

J. Parma, J. Dumont, G. Vassart, 1992, Endocrine reviews.

Prenatal diagnosis of primary microcephaly in two consanguineous families by confrontation of morphometry with DNA data

J. Parma, M. Abramowicz, J. Désir, 2006, Prenatal diagnosis.

Rapid and easy prenatal diagnosis of sickle cell anemia using double‐dye LNA probe technology

J. Vandesompele, J. Parma, P. Vannuffel, 2007, British journal of haematology.

Leydig cell tumors in children: contrasting clinical, hormonal, anatomical, and molecular characteristics in boys and girls.

J. Parma, H. Sartelet, G. Vassart, 2012, The Journal of pediatrics.

Activating mutations of the TSH receptor gene cause thyroid diseases.

S. Swillens, J. Parma, M. Tonacchera, 1996, Annales d'endocrinologie.

The cAMP in thyroid: from the TSH receptor to mitogenesis and tumorigenesis.

A. Allgeier, M. Parmentier, C. Ledent, 1997, Advances in second messenger and phosphoprotein research.