Articles

Search Articles

Advanced search
Help

Catalogue

Articles

Databases

X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (20) 20
male (16) 16
female (15) 15
endocrinology & metabolism (12) 12
child (10) 10
child, preschool (10) 10
adolescent (9) 9
index medicus (8) 8
adult (6) 6
genetics & heredity (5) 5
mutation (5) 5
mutations (5) 5
pediatrics (5) 5
puberty (5) 5
syndrome (5) 5
children (4) 4
cohort studies (4) 4
deafness (4) 4
infant (4) 4
phenotype (4) 4
risk factors (4) 4
abridged index medicus (3) 3
connexins (3) 3
expression (3) 3
genes (3) 3
homozygote (3) 3
insulin-like growth factor i - metabolism (3) 3
life sciences (3) 3
mutation - genetics (3) 3
21-hydroxylase deficiency (2) 2
[sdv.spee]life sciences [q-bio]/santé publique et épidémiologie (2) 2
abnormalities, multiple - genetics (2) 2
alleles (2) 2
beckwith-wiedemann-syndrome (2) 2
cardiovascular-disease (2) 2
cell biology (2) 2
connexin 26 (2) 2
connexins - genetics (2) 2
deafness - genetics (2) 2
diagnosis (2) 2
disorders (2) 2
dna - genetics (2) 2
erythrocytes - metabolism (2) 2
european continental ancestry group (2) 2
exposure (2) 2
factor-1 (2) 2
factor-ii gene (2) 2
fetal growth retardation - metabolism (2) 2
france (2) 2
gene (2) 2
genetic aspects (2) 2
girls (2) 2
growth disorders - genetics (2) 2
growth hormone (2) 2
growth retardation (2) 2
health aspects (2) 2
hearing impairment (2) 2
hearing loss, sensorineural - genetics (2) 2
heterozygote (2) 2
insulin resistance (2) 2
insulin-like growth factor binding protein 3 - blood (2) 2
intrauterine growth (2) 2
ligands (2) 2
lipodystrophy (2) 2
methylation (2) 2
mice (2) 2
mutation, missense (2) 2
pedigree (2) 2
postnatal-growth (2) 2
pregnancy (2) 2
prevalence (2) 2
proteins (2) 2
radioimmunoassay (2) 2
receptor (2) 2
research (2) 2
retardation (2) 2
santé publique et épidémiologie (2) 2
serum (2) 2
sf-1 (2) 2
steroidogenic factor 1 - genetics (2) 2
steroidogenic factor-i (2) 2
11-beta-hydroxysteroid dehydrogenase-deficiency (1) 1
11-beta-hydroxysteroid dehydrogenases (1) 1
3' untranslated regions (1) 1
46, xy disorders of sex development - genetics (1) 1
46,xy (1) 1
[ sdv.spee ] life sciences [q-bio]/santé publique et épidémiologie (1) 1
[sdv.mhep.em]life sciences [q-bio]/human health and pathology/endocrinology and metabolism (1) 1
[sdv.mhep.geo]life sciences [q-bio]/human health and pathology/gynecology and obstetrics (1) 1
acquired immunodeficiency syndrome - complications (1) 1
active antiretroviral therapy (1) 1
adiponectin - blood (1) 1
adipose-tissue (1) 1
adrenal hyperplasia (1) 1
adrenal hyperplasia, congenital - blood (1) 1
adrenal hyperplasia, congenital - diagnosis (1) 1
adrenal hyperplasia, congenital - drug therapy (1) 1
adrenal insufficiency (1) 1
adult hypertension (1) 1
age (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


1. Full Text Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome
by Thibaud, Nathalie and Netchine, Irène and Merrer, Martine Le and Steunou, Virginie and Bouc, Yves Le and Bertrand, Anne-Marie and Danton, Fabienne and Cabrol, Sylvie and Gicquel, Christine and Houang, Muriel and Burglen, Lydie and Rossignol, Sylvie and Barbu, Véronique
Nature Genetics, ISSN 1061-4036, 09/2005, Volume 37, Issue 9, pp. 1003 - 1007
Silver-Russell syndrome (SRS, OMIM 180860) is a congenital disorder characterized by severe intrauterine and postnatal growth retardation, dysmorphic facial... 
ENHANCER-BLOCKING ACTIVITY | METHYLATION | BECKWITH-WIEDEMANN-SYNDROME | GROWTH-DEFICIENCY | GENOMIC VARIANTS | GENETICS & HEREDITY | PHENOTYPE | IGF2 GENE | H19 GENE | CTCF | FACTOR-II GENE | Insulin-Like Growth Factor II | Humans | Fetal Growth Retardation | Molecular Sequence Data | Repressor Proteins - genetics | Chromosomes, Human, Pair 11 - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Promoter Regions, Genetic - genetics | RNA, Untranslated - genetics | Telomere | Syndrome | Genomic Imprinting - genetics | Proteins - genetics | DNA Methylation | CCCTC-Binding Factor | RNA, Long Noncoding | Growth Disorders - genetics | Growth Disorders - physiopathology | Genetic aspects | Research | Russell-Silver syndrome | Gene mutations | Health aspects | Risk factors
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
2. Full Text SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations
by Albert, Sébastien and Blons, Hélène and Jonard, Laurence and Feldmann, Delphine and Chauvin, Pierre and Loundon, Nathalie and Sergent-Allaoui, Annie and Houang, Muriel and Joannard, Alain and Schmerber, Sébastien and Delobel, Bruno and Leman, Jacques and Journel, Hubert and Catros, Hélène and Dollfus, Hélène and Eliot, Marie-Madeleine and David, Albert and Calais, Catherine and Drouin-Garraud, Valérie and Obstoy, Marie-Françoise and Tran Ba Huy, Patrice and Lacombe, Didier and Duriez, Françoise and Francannet, Christine and Bitoun, Pierre and Petit, Christine and Garabédian, Eréa-Noël and Couderc, Rémy and Marlin, Sandrine and Denoyelle, Françoise
European Journal of Human Genetics, ISSN 1018-4813, 06/2006, Volume 14, Issue 6, pp. 773 - 779
Sensorineural hearing loss is the most frequent sensory deficit of childhood and is of genetic origin in up to 75% of cases. It has been shown that mutations... 
Deafness | DFNB4 | EVA | SLC26A4 | Pendred | PENDRED-SYNDROME | pendred | BIOCHEMISTRY & MOLECULAR BIOLOGY | EAR | GENETICS & HEREDITY | PREVALENCE | deafness | COMPUTED-TOMOGRAPHY | PDS MUTATIONS | Deafness - genetics | Prevalence | Goiter - pathology | Humans | Child, Preschool | Infant | Male | Goiter - genetics | Vestibular Aqueduct - abnormalities | Membrane Transport Proteins - genetics | Adult | Female | Child | Connexins - genetics | Hearing Loss, Sensorineural - pathology | European Continental Ancestry Group | Hearing Loss, Sensorineural - genetics | Syndrome | Connexin 26 | Deafness - pathology | Homozygote | Adolescent | Alleles | Mutation | Deafness - congenital | Cohort Studies | Proteins | Pediatrics | Genetics | Ears & hearing | Whites | Vestibular system | Children | Hearing impairment | Hearing loss | Life Sciences | Neurons and Cognition | Neurobiology
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
3. Full Text Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit
by Donadille, Bruno and Houang, Muriel and Netchine, Irène and Siffroi, Jean-Pierre and Christin-Maitre, Sophie
Endocrine Connections, ISSN 2049-3614, 03/2018, Volume 7, Issue 3, pp. 395 - 402
Human 3 beta-hydroxysteroid dehydrogenase deficiency (3b-HSD) is a very rare form of congenital adrenal hyperplasia resulting from HSD3B2 gene mutations. The... 
Rare diseases | Paediatric endocrinology | Puberty | Steroidogenesis | DIAGNOSIS | STEROIDS | 21-HYDROXYLASE DEFICIENCY | steroidogenesis | PUBERTAL BOY | CONGENITAL ADRENAL-HYPERPLASIA | paediatric endocrinology | rare diseases | HSD3B2 GENE | MEN | ENDOCRINOLOGY & METABOLISM | puberty | MUTATIONS | ANDROGENS | HYPOGONADOTROPIC HYPOGONADISM
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
4. Full Text Partial Primary Deficiency of Insulin-Like Growth Factor (IGF)-I Activity Associated with IGF1 Mutation Demonstrates Its Critical Role in Growth and Brain Development
by Netchine, Irène and Azzi, Salah and Houang, Muriel and Seurin, Danielle and Perin, Laurence and Ricort, Jean-Marc and Daubas, Claudine and Legay, Christine and Mester, Jan and Herich, Robert and Godeau, François and Le Bouc, Yves
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 10/2009, Volume 94, Issue 10, pp. 3913 - 3921
Context: IGF-I is essential for fetal and postnatal development. Only three IGF1 defects leading to dramatic loss of binding to its type 1 receptor, IGF-1R,... 
SYSTEM | RETARDATION | POSTNATAL-GROWTH | ENDOCRINOLOGY & METABOLISM | RECEPTOR | IMPRINTING CENTER REGION | MICE | HIGH-AFFINITY BINDING | FACTOR-I | INTRAUTERINE GROWTH | PROTEINS | DNA, Complementary - analysis | Phosphorylation | Cell Proliferation | Humans | Insulin-Like Growth Factor Binding Protein 3 - blood | Insulin-Like Growth Factor I - deficiency | Male | Insulin-Like Growth Factor I - genetics | Brain - growth & development | Mutation, Missense | Brain - metabolism | Arginine | DNA Mutational Analysis | Pedigree | Female | Child | Insulin-Like Growth Factor I - metabolism | Glutamine
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
5. Mutations in the maternally imprinted gene MKRN3 are common in familial central precocious puberty
by Simon, Dominique and Ba, Ibrahima and Mekhail, Nancy and Ecosse, Emmanuel and Paulsen, Anne and Zenaty, Delphine and Houang, Muriel and Perelroizen, Monique Jesuran and De Filippo, Gian-Paolo and Salerno, Mariacarolina and Simonin, Gilbert and Reynaud, Rachel and Carel, Jean-Claude and Léger, Juliane and De Roux, Nicolas
European Journal of Endocrinology, ISSN 0804-4643, 01/2016, Volume 174, Issue 1, pp. 1 - 8
Context and objective: Idiopathic central precocious puberty (iCPP) is defined as early activation of the hypothalamic-pituitary-gonadal axis in the absence of... 
GIRLS | ENDOCRINOLOGY & METABOLISM | Puberty | Frameshift Mutation | Humans | Child, Preschool | Male | Mutation, Missense | Mothers | Puberty, Precocious - genetics | Phenotype | Pedigree | Female | Heterozygote | Italy | Ribonucleoproteins - genetics | Fathers | Mutation | France | Child
Journal Article
Details down arrow
6. Full Text New Management Strategy of Pregnancies at Risk of Congenital Adrenal Hyperplasia Using Fetal Sex Determination in Maternal Serum: French Cohort of 258 Cases (2002–2011)
by Tardy-Guidollet, Véronique and Menassa, Rita and Costa, Jean-Marc and David, Michel and Bouvattier-Morel, Claire and Baumann, Clarisse and Houang, Muriel and Lorenzini, Françoise and Philip, Nicole and Odent, Sylvie and Guichet, Agnès and Morel, Yves
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 04/2014, Volume 99, Issue 4, pp. 1180 - 1188
Context: Prenatal dexamethasone (DEX) treatment has been proposed since 1984 to prevent genital virilization in girls with congenital adrenal hyperplasia... 
FORMS | DIAGNOSIS | WOMEN | 21-HYDROXYLASE DEFICIENCY | ENDOCRINOLOGY & METABOLISM | TREATED PREGNANCIES | FOLLOW-UP | DISORDERS | PRENATAL DEXAMETHASONE TREATMENT | EXPOSURE | CHILDREN | Prenatal Diagnosis - statistics & numerical data | France - epidemiology | Sex Determination Analysis - methods | Adrenal Hyperplasia, Congenital - drug therapy | Blood Chemical Analysis | Maternal-Fetal Exchange | Humans | Risk Factors | Male | Fetal Therapies - methods | Adrenal Hyperplasia, Congenital - blood | Dexamethasone - therapeutic use | Adrenal Hyperplasia, Congenital - diagnosis | Virilism - prevention & control | Fetal Therapies - statistics & numerical data | Female | Pregnancy - blood | Prenatal Diagnosis - methods | Virilism - epidemiology | Cohort Studies | Life Sciences | Human health and pathology | Gynecology and obstetrics | Endocrinology and metabolism | Santé publique et épidémiologie
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
7. Full Text Brief report: 11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: Clinical scoring system and epigenetic-phenotypic correlations
by Netchine, Irène and Rossignol, Sylvie and Dufourg, Marie-Noëlle and Azzi, Salah and Rousseau, Alexandra and Perin, Laurence and Houang, Muriel and Steunou, Virginie and Esteva, Blandine and Thibaud, Nathalie and Demay, Marie-Charles Raux and Danton, Fabienne and Petriczko, Elzbieta and Bertrand, Anne-Marie and Heinrichs, Claudine and Carel, Jean-Claude and Loeuille, Guy-André and Pinto, Graziella and Jacquemont, Marie-Line and Gicquel, Christine and Cabrol, Sylvie and Le Bouc, Yves
Journal of Clinical Endocrinology and Metabolism, ISSN 0021-972X, 2007, Volume 92, Issue 8, pp. 3148 - 3154
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
8. Full Text Acceptance of a reusable self-injection device for recombinant human growth hormone: Final data from a questionnaire-based, cross-sectional, international, multicenter, observational study in pediatric patients
by Schnabel, Dirk and Partsch, Carl-Joachim and Houang, Muriel and Ehtisham, Sarah and Johnstone, Helen and Zabransky, Markus and Kiess, Wieland
Medical Devices: Evidence and Research, ISSN 1179-1470, 09/2016, Volume 9, pp. 317 - 324
A questionnaire-based survey was conducted to assess attitudes toward a reusable self-injection system (SurePal™) among pediatric patients with growth... 
Self-injection | Growth hormone | Omnitrope | Intervention adherence | PATRO children | SurePal | Surveys | Medicine, Experimental | Somatotropin | Medical research | Children | Health aspects | Pediatrics | Genetic disorders | Patients | Studies | Design | Hospitals | Nurses | Questionnaires | Growth hormones | Population | Standard deviation | Hormone replacement therapy | Teenagers | Preferences | Usability | Age | self-injection | growth hormone | PATRO Children | intervention adherence
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
9. Full Text 11p15 Imprinting Center Region 1 Loss of Methylation Is a Common and Specific Cause of Typical Russell-Silver Syndrome: Clinical Scoring System and Epigenetic-Phenotypic Correlations
by Netchine, Irène and Rossignol, Sylvie and Dufourg, Marie-Noëlle and Azzi, Salah and Rousseau, Alexandra and Perin, Laurence and Houang, Muriel and Steunou, Virginie and Esteva, Blandine and Thibaud, Nathalie and Raux Demay, Marie-Charles and Danton, Fabienne and Petriczko, Elzbieta and Bertrand, Anne-Marie and Heinrichs, Claudine and Carel, Jean-Claude and Loeuille, Guy-André and Pinto, Graziella and Jacquemont, Marie-Line and Gicquel, Christine and Cabrol, Sylvie and Le Bouc, Yves
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 08/2007, Volume 92, Issue 8, pp. 3148 - 3154
Context: Russell-Silver syndrome (RSS), characterized by intrauterine and postnatal growth retardation, dysmorphic features, and frequent body asymmetry,... 
RETARDATION | BECKWITH-WIEDEMANN-SYNDROME | CHROMOSOME 11P15 | FETAL-GROWTH | ENDOCRINOLOGY & METABOLISM | IGF2 | MICE | DUPLICATION | INTRAUTERINE GROWTH | FACTOR-II GENE | DEFICIENCY | Genomic Imprinting | Face - abnormalities | Humans | Fetal Growth Retardation - genetics | Infant, Small for Gestational Age - physiology | Male | Mutation - genetics | Insulin-Like Growth Factor II - metabolism | Syndrome | DNA - genetics | Mutation - physiology | Phenotype | Female | Chromosomes, Human, Pair 7 - genetics | Methylation | Abnormalities, Multiple - genetics | Infant, Newborn | Aging - metabolism
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
10. Full Text Increasing knowledge in IGF1R defects: lessons from 35 new patients
by Giabicani, Eloïse and Willems, Marjolaine and Steunou, Virginie and Chantot-Bastaraud, Sandra and Thibaud, Nathalie and Abi Habib, Walid and Azzi, Salah and Lam, Bich and Bérard, Laurence and Bony-Trifunovic, Hélène and Brachet, Cécile and Brischoux-Boucher, Elise and Caldagues, Emmanuelle and Coutant, Regis and Cuvelier, Marie-Laure and Gelwane, Georges and Guemas, Isabelle and Houang, Muriel and Isidor, Bertrand and Jeandel, Claire and Lespinasse, James and Naud-Saudreau, Catherine and Jesuran-Perelroizen, Monique and Perrin, Laurence and Piard, Juliette and Sechter, Claire and Souchon, Pierre-François and Storey, Caroline and Thomas, Domitille and Le Bouc, Yves and Rossignol, Sylvie and Netchine, Irène and Brioude, Frédéric
Journal of Medical Genetics, ISSN 0022-2593, 10/2019, p. jmedgenet-2019-106328
BackgroundThe type 1 insulin-like growth factor receptor (IGF1R) is a keystone of fetal growth regulation by mediating the effects of IGF-I and IGF-II.... 
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
11. Full Text Experience with Intraamniotic Thyroxine Treatment in Nonimmune Fetal Goitrous Hypothyroidism in 12 Cases
by Ribault, Virginie and Castanet, Mireille and Bertrand, Anne-Marie and Guibourdenche, Jean and Vuillard, Edith and Luton, Dominique and Polak, Michel and French Fetal Goiter Study Grp and French Fetal Goiter Study Group and the French Fetal Goiter Study Group
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 10/2009, Volume 94, Issue 10, pp. 3731 - 3739
Context: Nonimmune fetal goitrous hypothyroidism is a rare condition that can induce obstetrical and/or neonatal complications and neurodevelopmental... 
INTRAUTERINE DIAGNOSIS | ORGANIFICATION DEFECT | THYROID-STIMULATING HORMONE | COMPOUND HETEROZYGOUS MUTATION | ANTENATAL DIAGNOSIS | CONGENITAL HYPOTHYROIDISM | DYSHORMONOGENETIC GOITER | ENDOCRINOLOGY & METABOLISM | GRAVES-DISEASE | OF-THE-LITERATURE | PRENATAL-DIAGNOSIS | Fetal Diseases - drug therapy | Hypothyroidism - metabolism | Thyroid Function Tests | Humans | Thyroxine - administration & dosage | Male | Treatment Outcome | Thyrotropin - metabolism | Congenital Hypothyroidism - prevention & control | Pregnancy | Injections | Amniotic Fluid - metabolism | Ultrasonography, Prenatal | Hypothyroidism - drug therapy | Amnion | Female | Retrospective Studies | Thyroxine - therapeutic use | Fetal Diseases - metabolism | Goiter - drug therapy
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
12. Full Text Longitudinal Evaluation and Risk Factors of Lipodystrophy and Associated Metabolic Changes in HIV-Infected Children
by Beregszaszi, Marta and Dollfus, Catherine and Levine, Martine and Faye, Albert and Deghmoun, Samia and Bellal, Nassima and Houang, Muriel and Chevenne, Didier and Hankard, Régis and Bresson, Jean-Louis and Blanche, Stéphane and Levy-Marchal, Claire
JAIDS Journal of Acquired Immune Deficiency Syndromes, ISSN 1525-4135, 10/2005, Volume 40, Issue 2, pp. 161 - 168
OBJECTIVE:To assess the rate of progression of lipodystrophy and the associated metabolic disturbances over a 2-year period in children and to assess risk... 
Puberty | Insulin resistance | Lipodystrophy | Treatment | Children | HIV | DEFINITION | treatment | INFECTIOUS DISEASES | children | puberty | ANTIRETROVIRAL THERAPY | IMMUNOLOGY | insulin resistance | FAT DISTRIBUTION | lipodystrophy | Multivariate Analysis | Prospective Studies | Humans | Risk Factors | Male | Lipodystrophy - complications | Antiretroviral Therapy, Highly Active | HIV Infections - complications | Female | HIV Infections - drug therapy | Child | Longitudinal Studies | HIV Infections - metabolism | Antiviral agents | Complications and side effects | HIV infection in children | Drug therapy | Risk factors
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
13. Full Text DNA polymorphisms of the KiSS1 3′ Untranslated region interfere with the folding of a G-rich sequence into G-quadruplex
by Huijbregts, Lukas and Roze, Catherine and Bonafe, Giulia and Houang, Muriel and Le Bouc, Yves and Carel, Jean-Claude and Leger, Juliane and Alberti, Patrizia and de Roux, Nicolas
Molecular and Cellular Endocrinology, ISSN 0303-7207, 04/2012, Volume 351, Issue 2, pp. 239 - 248
► Polymorphisms in the 3′UTR of KiSS1 are associated with central precocious puberty. ► These polymorphisms are located in a G-rich sequence of the 3′UTR of... 
Puberty | KiSS1 | G-quadruplex | Precocious puberty | CENTRAL PRECOCIOUS PUBERTY | GPR54 | RECEPTOR | HORMONE-RELEASING ACTIVITY | PEPTIDE | CELL BIOLOGY | ISOLATED HYPOGONADOTROPIC HYPOGONADISM | MESSENGER-RNA | GENE | ENDOCRINOLOGY & METABOLISM | KISSPEPTIN | GIRLS | Humans | Middle Aged | Gene Expression Regulation | Child, Preschool | Male | Puberty - genetics | DNA - genetics | Young Adult | DNA - chemistry | Kisspeptins - genetics | Adolescent | Adult | Female | G-Quadruplexes | Polymorphism, Single Nucleotide | 3' Untranslated Regions | Nucleic Acid Conformation | Child | Circular Dichroism | Genetic aspects | DNA | Cells | Control | Genes | Deoxyribonucleic acid | Ligands | Nucleotides | Time measurements | Folding | Polymorphism
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
14. Full Text Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias
by Peycelon, Matthieu and Mansour-Hendili, Lamisse and Hyon, Capucine and Collot, Nathalie and Houang, Muriel and Legendre, Marie and Chabaud, Maud and Bouvier, Marie-Dominique and Audry, Georges and Amselem, Serge and Siffroi, Jean-Pierre
Sexual Development, ISSN 1661-5425, 02/2018, Volume 11, Issue 5-6, pp. 293 - 297
A heterozygous intragenic duplication within the repeated area (CTGCAGCTG)×2 of the NR5A1 gene was found in a 15-year-old 46,XY DSD (disorders/differences of... 
Short Report | Gene duplication | Steroidogenic factor 1 | Disorders of sex development | Steroidogenic Factor 1 | SF-1 | FACTOR-1 | SEX DETERMINATION | DEVELOPMENTAL BIOLOGY | MUTATIONS | 46,XY | STEROIDOGENIC FACTOR-I | OVARIAN INSUFFICIENCY | Disorders of Sex Development | 46, XY Disorders of Sex Development - genetics | Hypospadias - metabolism | Humans | Adolescent | Steroidogenic Factor 1 - genetics | Heterozygote | Hypospadias - genetics | Male | Steroidogenic Factor 1 - metabolism | Mutation - genetics | Genes | Hypospadias
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
15. Full Text Erratum à l’article « Un programme d’éducation thérapeutique centré sur la transition des patients, avec endocrinopathie chronique, entre les services d’endocrinologie pédiatrique et adulte » [Presse Med. 45 (5) (2016) e119–e129]
by Malivoir, Sabine and Courtillot, Carine and Bachelot, Anne and Chakhtoura, Zeina and Téjédor, Isabelle and Touraine, Philippe and Polak, Michel and Léger, Julianne and Pinto, Graziella and Brauner, Raja and Crosnier, Hélène and Bidet, Maud and Doz, François and Dufour, Christelle and Grill, Jacques and Zenaty, Delphine and Brugières, Laurence and Carel, Jean Claude and Czernichow, Paul and Houang, Muriel and Patte, Catherine and Pawels, Christian and Guilmin Crépon, Sophie and Personnier, Claire and Sainte Rose, Christian and Thalassinos, Caroline
La Presse Médicale, ISSN 0755-4982, 07/2016, Volume 45, Issue 7-8, pp. 718 - 718
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
16. Full Text Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome with Renal Failure: Impact of Posttransplant Immunosuppression on Disease Activity
by Ulinski, Tim and Perrin, Laurence and Morris, Michael and Houang, Muriel and Cabrol, Sylvie and Grapin, Christine and Chabbert-Buffet, Nathalie and Bensman, Albert and Deschênes, Georges and Giurgea, Irina
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 01/2006, Volume 91, Issue 1, pp. 192 - 195
Context: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder caused by mutations in the gene AIRE... 
SYSTEMIC-LUPUS-ERYTHEMATOSUS | PROTEIN | CLONING | ENDOCRINOLOGY & METABOLISM | NEGATIVE SELECTION | APECED GENE | MUTATIONS | AIRE GENE | EXPRESSION | MYCOPHENOLATE-MOFETIL | Graft Rejection - drug therapy | Kidney Failure, Chronic - surgery | Humans | Immunosuppressive Agents - therapeutic use | Seizures - drug therapy | Child, Preschool | Exons - genetics | Kidney Transplantation | Seizures - complications | Polyendocrinopathies, Autoimmune - surgery | Kidney Failure, Chronic - pathology | Gene Deletion | Anti-Inflammatory Agents - therapeutic use | Polyendocrinopathies, Autoimmune - complications | Female | Immunosuppressive Agents - adverse effects | T-Lymphocytes - immunology | Polyendocrinopathies, Autoimmune - genetics
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
17. Full Text Partial Primary Deficiency of Insulin-Like Growth Factor (IGF)-I Activity Associated withIGF1Mutation Demonstrates Its Critical Role in Growth and Brain Development
by Netchine, Irène and Azzi, Salah and Houang, Muriel and Seurin, Danielle and Perin, Laurence and Ricort, Jean-Marc and Daubas, Claudine and Legay, Christine and Mester, Jan and Herich, Robert and Godeau, François and Le Bouc, Yves
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 10/2009, Volume 94, Issue 10, pp. 3913 - 3921
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
18. Full Text Partial Primary Deficiency of Insulin-Like Growth Factor (IGF)-I Activity Associated withIGF1Mutation Demonstrates Its Critical Role in Growth and Brain Development
by Netchine, Irène and Azzi, Salah and Houang, Muriel and Seurin, Danielle and Perin, Laurence and Ricort, Jean-Marc and Daubas, Claudine and Legay, Christine and Mester, Jan and Herich, Robert and Godeau, François and Le Bouc, Yves
Molecular Endocrinology, ISSN 0888-8809, 11/2009, Volume 23, Issue 11, pp. 1936 - 1936
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
19. Full Text Contents Vol. 11, 2017
Sexual Development, ISSN 1661-5425, 02/2018, Volume 11, Issue 5-6, pp. I - IV
Further Section
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
20. Full Text Partial Primary Deficiency of Insulin-Like Growth Factor (IGF)-I Activity Associated with IGF1 Mutation Demonstrates Its Critical Role in Growth and Brain Development
by Netchine, Irène and Azzi, Salah and Houang, Muriel and Seurin, Danielle and Perin, Laurence and Ricort, Jean-Marc and Daubas, Claudine and Legay, Christine and Mester, Jan and Herich, Robert and Godeau, François and Le Bouc, Yves
Molecular Endocrinology, ISSN 0888-8809, 11/2009, Volume 23, Issue 11, pp. 1936 - 1936
ABSTRACT Context IGF-I is essential for fetal and postnatal development. Only three IGF1 defects leading to dramatic loss of binding to its type 1 receptor,... 
Translational Highlights from Jcem
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights