المؤلفون: Inês Pires Duro, Sara Mosca, Graça Araújo, Joana Lorenzo, Catarina Figueiredo, Joana Freitas, Maria João Oliveira, Teresa Borges

المصدر: Journal of Pediatric and Neonatal Individualized Medicine, Vol 11, Iss 1, Pp e110108-e110108 (2021)

مصطلحات موضوعية: primary adrenal insufficiency, neonatal adrenal insufficiency, x-linked adrenal hypoplasia congenita, hypogonadotropic hypogonadism, Medicine, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://jpnim.com/index.php/jpnim/article/view/1098; https://doaj.org/toc/2281-0692

URL الوصول: https://doaj.org/article/573dbcba2fe34ac090224d4b888d92e7

المؤلفون: Rajesh Joshi, Karthik Shroff

المصدر: Sri Lanka Journal of Medicine, Vol 29, Iss 1, Pp 32-34 (2020)

مصطلحات موضوعية: central, nuclear receptor dax-1, precocious puberty, x-linked adrenal hypoplasia congenita, Medicine

وصف الملف: electronic resource

Relation: https://account.sljm.sljol.info/index.php/sljo-j-sljm2/article/view/136; https://doaj.org/toc/2579-1990

URL الوصول: https://doaj.org/article/9c2662cabdfa44e386ab216f5866acff

المؤلفون: Lorenzo Iughetti, Laura Lucaccioni, Patrizia Bruzzi, Silvia Ciancia, Elena Bigi, Simona Filomena Madeo, Barbara Predieri, Florence Roucher-Boulez

المصدر: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-8 (2019)

مصطلحات موضوعية: NR0B1, DAX-1, X-linked adrenal hypoplasia congenita, Adrenal insufficiency, Hypoaldosteronism, Mineralocorticoid deficiency, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-019-0834-7; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/ec150d01b8a7412dab3fd8beb6b7d8d1

المؤلفون: Kyung Chul Song, Junghwan Suh, Ho-Seong Kim, Ah Reum Kwon, Han Saem Choi, Jin Sung Lee, Hyun Wook Chae

المصدر: Annals of Pediatric Endocrinology & Metabolism

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Hypogonadism, DAX-1 Orphan Nuclear Receptor, Adrenal crisis, Case Report, medicine.disease, Primary Adrenal Insufficiency, DAX-1 orphan nuclear receptor, Endocrinology, Hypogonadotropic hypogonadism, Internal medicine, X-linked adrenal hypoplasia congenita, Pediatrics, Perinatology and Child Health, medicine, Adrenal insufficiency, medicine.symptom, business, Spermatogenesis, Testosterone

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9223a9bc5b7cb233b16e5fce4261a1dc
http://europepmc.org/articles/PMC8255865

المؤلفون: Durković Jasmina, Milenković Tatjana, Krone Nils, Parajes Silvia, Mandić Bojana

المصدر: Srpski Arhiv za Celokupno Lekarstvo, Vol 142, Iss 11-12, Pp 728-731 (2014)

مصطلحات موضوعية: free estriol in maternal serum, prenatal diagnosis, X-linked adrenal hypoplasia congenita, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0370-8179

URL الوصول: https://doaj.org/article/dafd0e8d4cbf42f5a48b4877d7feed46

المؤلفون: Ji Won Koh, So Young Kang, Gu Hwan Kim, Han Wook Yoo, Jeesuk Yu

المصدر: Annals of Pediatric Endocrinology & Metabolism, Vol 18, Iss 2, Pp 90-94 (2013)

مصطلحات موضوعية: X-linked adrenal hypoplasia congenita, Nuclear Receptor DAX-1, Precocious puberty, Central, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://e-apem.org/upload/pdf/apem-18-90.pdf; https://doaj.org/toc/2287-1012; https://doaj.org/toc/2287-1292

URL الوصول: https://doaj.org/article/84ed983566524acd8bc83d84b8bf3324

المؤلفون: Ji Sook Park, Jae Young Cho, Ji Hyun Seo, Jae Young Lim, Hyang Ok Woo, Eun Sil Park, Seul Ah. Jeong, Hee-Shang Youn, Boo Kyeong Seo

المصدر: BMC Endocrine Disorders, Vol 20, Iss 1, Pp 1-6 (2020)
BMC Endocrine Disorders

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Schwannoma, Endocrinology, Diabetes and Metabolism, Case Report, lcsh:Diseases of the endocrine glands. Clinical endocrinology, 03 medical and health sciences, 0302 clinical medicine, Polyuria, Hypogonadotropic hypogonadism, 030225 pediatrics, X-linked adrenal hypoplasia congenita, medicine, Adrenal insufficiency, Humans, Central diabetes insipidus, lcsh:RC648-665, Base Sequence, business.industry, DAX-1 Orphan Nuclear Receptor, Infant, General Medicine, medicine.disease, Adrenal hypoplasia congenita, Diabetes Insipidus, Neurogenic, 030104 developmental biology, Hypoadrenocorticism, Familial, Congenital adrenal hypoplasia, Diabetes insipidus, DAX1, medicine.symptom, business, Polydipsia, Neurilemmoma

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43d6202fc3ddafb758dbbb353ef5dde1
http://link.springer.com/article/10.1186/s12902-020-00553-0

المؤلفون: Daniel Konrad, Sascha Wyss, Karine Gerster, Patrick Sproll, Claudia Katschnig, Anna Biason-Lauber, Anne Kolly

المساهمون: University of Zurich, Biason-Lauber, Anna

مصطلحات موضوعية: Male, Models, Molecular, 0301 basic medicine, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, 610 Medicine & health, 030209 endocrinology & metabolism, medicine.disease_cause, Diagnosis, Differential, 03 medical and health sciences, Exon, 0302 clinical medicine, Endocrinology, Mutant protein, Internal medicine, X-linked adrenal hypoplasia congenita, Adrenal insufficiency, Humans, Medicine, 2735 Pediatrics, Perinatology and Child Health, Family history, Gene, Mutation, DAX-1 Orphan Nuclear Receptor, business.industry, medicine.disease, 1310 Endocrinology, 2712 Endocrinology, Diabetes and Metabolism, 030104 developmental biology, 10036 Medical Clinic, Codon, Nonsense, Hypoadrenocorticism, Familial, Child, Preschool, Acute Disease, Pediatrics, Perinatology and Child Health, DAX1, business, Adrenal Insufficiency

وصف الملف: Gerster_et_al_JPEM_revised.pdf - application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4926670ffc6ff2b5bdc6a7339041c9f8
http://doc.rero.ch/record/332190/files/jpem-2017-0261.pdf

المؤلفون: Magnus R. Dias-da-Silva, Nelson Rassi, Flávia A. Costa-Barbosa, Michelle Cerutti C. Vargas, Cecília Pacheco Elias, Sara R. Carvalho, Ilda S. Kunii, Felipe Scipião Moura

المصدر: BMC Endocrine Disorders, Vol 20, Iss 1, Pp 1-7 (2020)
BMC Endocrine Disorders

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Infertility, Endocrinology, Diabetes and Metabolism, media_common.quotation_subject, Physiology, Case Report, 030209 endocrinology & metabolism, Fertility, Hypothalamic–pituitary–gonadal axis, Disease, lcsh:Diseases of the endocrine glands. Clinical endocrinology, 03 medical and health sciences, 0302 clinical medicine, Hypogonadotropic hypogonadism, X-linked adrenal hypoplasia congenita, Adrenal insufficiency, medicine, Humans, Adrenal hypoplasia congenita (AHC), Age of Onset, media_common, lcsh:RC648-665, DAX-1 Orphan Nuclear Receptor, business.industry, Reproduction, Adrenal crisis, Genetic Diseases, X-Linked, General Medicine, DAX-1 mutation, Middle Aged, Prognosis, medicine.disease, Pedigree, Phenotype, 030104 developmental biology, Mutation, Female, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::681e25575997877c1d067bb8681aec1d
https://doaj.org/article/82085d1044cc4aaab002f6985a5c818c

المؤلفون: Suntharalingham, JP, Buonocore, F, Duncan, AJ, Achermann, JC

المصدر: Best Practice & Research Clinical Endocrinology & Metabolism , 29 (4) pp. 607-619. (2015)

مصطلحات موضوعية: 46,XY disorders of sex development, Addison disease, DAX-1, SF-1, X-linked adrenal hypoplasia congenita, hypogonadotropic hypogonadism, hypospadias, infertility, primary adrenal insufficiency, primary ovarian insufficiency

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1472175/7/Achermann_1472175_Suntharalingham%20DAX-1%20SF-1%20BPRCEM%202015%20for%20RPS.pdf; https://discovery.ucl.ac.uk/id/eprint/1472175/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1472175/7/Achermann_1472175_Suntharalingham%20DAX-1%20SF-1%20BPRCEM%202015%20for%20RPS.pdf
https://discovery.ucl.ac.uk/id/eprint/1472175/

المؤلفون: Aditya Narayan Sarangi, Kausik Mandal, Suchit Gupta, Mini G Pillai, Ghazala Zaidi, Nisha Bhavani, Eesh Bhatia, Praveen V Pavithran, Surya Kumar Singh, Vijayalakshmi Bhatia, Kriti Joshi, Tushar Godbole

المصدر: Journal of Pediatric Endocrinology and Metabolism. 32:863-869

مصطلحات موضوعية: Adult, Male, Endocrinology, Diabetes and Metabolism, Duchenne muscular dystrophy, DNA Mutational Analysis, Nonsense mutation, India, Young Adult, 03 medical and health sciences, Endocrinology, X-linked adrenal hypoplasia congenita, medicine, Adrenal insufficiency, Humans, Missense mutation, Multiplex ligation-dependent probe amplification, Child, X chromosome, 030304 developmental biology, Genetics, 0303 health sciences, DAX-1 Orphan Nuclear Receptor, business.industry, 030305 genetics & heredity, Infant, Newborn, Infant, Genetic Diseases, X-Linked, Prognosis, medicine.disease, Pedigree, Mutation, Pediatrics, Perinatology and Child Health, Female, DAX1, business, Adrenal Insufficiency, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4feb013c45b7e4635f1b87ef9633e078
https://doi.org/10.1515/jpem-2018-0440

المؤلفون: Chunxiu Gong, Lele Li, Wenjing Li, Jiahui Chen

المصدر: Pediatric Investigation
Pediatric Investigation, Vol 3, Iss 2, Pp 127-130 (2019)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Turner syndrome, Central precocious puberty, Case Report, Case Reports, RJ1-570, X-linked adrenal hypoplasia congenita, medicine, Klinefelter syndrome, business.industry, 48,XXYY, Hypogonadism, medicine.disease, Triptorelin, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Luteinizing hormone, business, Penis, medicine.drug, Hormone

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94536c30169b3d422175ca7d614400d8
https://doi.org/10.1002/ped4.12136

المؤلفون: Tian Xu, Xiaoyun Lin, Zhenlin Zhang, Hua Yue, Li Liu, Xiaohui Tao

مصطلحات موضوعية: Genetics, Drug treatment, X-linked adrenal hypoplasia congenita, Mutation (genetic algorithm), medicine, Identification (biology), Biology, medicine.disease, NR0B1 gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ce49b1fcdbf9e08b6d936635d29ddf5d
https://doi.org/10.21203/rs.3.rs-373516/v1

المؤلفون: Maria Bolomiti, Erik Båtnes-Pedersen, Danuta Januszkiewicz-Lewandowska, Gabriela Telman

المصدر: Cancer genetics.

مصطلحات موضوعية: Male, Cancer Research, Pathology, medicine.medical_specialty, Biology, Osteochondrodysplasias, 03 medical and health sciences, 0302 clinical medicine, X-linked adrenal hypoplasia congenita, Rhabdomyosarcoma, Genetics, medicine, Humans, IMAGe Syndrome, Molecular Biology, Exome sequencing, Fetal Growth Retardation, Infant, Newborn, Infant, medicine.disease, Metaphyseal dysplasia, Magnetic Resonance Imaging, 030220 oncology & carcinogenesis, Child, Preschool, Urogenital Abnormalities, Chromosomal region, Female, Embryonal rhabdomyosarcoma, Congenital disorder, Adrenal Insufficiency

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34e8382f43514c12e33b7df93a736282
https://pubmed.ncbi.nlm.nih.gov/34098225

المؤلفون: Emanuele Pignatti, Christa E. Flück

المصدر: Pignatti, Emanuele; Flück, Christa E. (2021). Adrenal cortex development and related disorders leading to adrenal insufficiency. Molecular and cellular endocrinology, 527, p. 111206. Elsevier Ireland 10.1016/j.mce.2021.111206 <http://dx.doi.org/10.1016/j.mce.2021.111206>

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, endocrine system, Hydrocortisone, Adrenal disorder, 610 Medicine & health, 030209 endocrinology & metabolism, Biochemistry, Primary Adrenal Insufficiency, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, X-linked adrenal hypoplasia congenita, Internal medicine, Adrenal insufficiency, Animals, Humans, Medicine, Aldosterone, Molecular Biology, business.industry, Adrenal cortex, Adrenarche, medicine.disease, Zona Reticularis, 030104 developmental biology, medicine.anatomical_structure, Zona glomerulosa, Androgens, Zona Glomerulosa, business, Zona reticularis, Adrenal Insufficiency

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cee8835e339597b4ef2cf7e3e20ea711

المؤلفون: Melati Wijaya, Minlian Du, Qiuli Chen, Huamei Ma, Song Guo, Yanhong Li, Jun Zhang

المصدر: BMC Endocrine Disorders
BMC Endocrine Disorders, Vol 21, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: Male, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Pseudohypoaldosteronism, 030209 endocrinology & metabolism, Gene mutation, Compound heterozygosity, Gastroenterology, Diseases of the endocrine glands. Clinical endocrinology, Primary Adrenal Insufficiency, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, 030225 pediatrics, Internal medicine, X-linked adrenal hypoplasia congenita, medicine, Cytochrome P-450 CYP11B2, Humans, Congenital adrenal hyperplasia, Aldosterone, Retrospective Studies, Adrenal Hyperplasia, Congenital, Adrenal disease, business.industry, Research, Infant, Newborn, Infant, General Medicine, Syndrome, RC648-665, medicine.disease, Prognosis, Pedigree, chemistry, Child, Preschool, Mutation, Etiology, Female, Aldosterone synthase deficiency, Salt wasting, Primary adrenal insufficiency, business, Biomarkers, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20e96b4df58d610049a95011b3719709
https://pubmed.ncbi.nlm.nih.gov/34243750

المؤلفون: Yasushi Ishigaki, Yuichiro Kezuka, Wataru Obara, Koji Nata, Yoichiro Kato, Marino Sato, Takamasa Nonaka, Toshie Segawa, Shukuko Tamura, Yoshihiko Takahashi, Yutaka Hasegawa, Tomoyasu Oda, Ken Onodera

المصدر: Journal of the Endocrine Society

مصطلحات موضوعية: 0301 basic medicine, Endocrinology, Diabetes and Metabolism, Mutant, 030209 endocrinology & metabolism, cortisol, Gene mutation, 03 medical and health sciences, 0302 clinical medicine, Hypogonadotropic hypogonadism, X-linked adrenal hypoplasia congenita, medicine, Adrenal insufficiency, Missense mutation, testicular microlithiasis, Clinical Research Articles, business.industry, hypogonadotropic hypogonadism, medicine.disease, NR0B1, adrenal hypoplasia congenita, 030104 developmental biology, Cancer research, DAX1, business, steroidogenic acute regulatory protein (STAR), AcademicSubjects/MED00250, Testicular microlithiasis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c13ac9b09f9305217f42923d6f92d7f2
https://doi.org/10.1210/jendso/bvaa176

المؤلفون: Anita Schachter-Davidov, Anat Segev-Becker, Amnon Zung, Yair Levin, Zohar Landau, Naomi Weintrob, Ori Eyal, Marianna Rachmiel, Asaf Oren

المصدر: European Journal of Pediatrics. 178:731-738

مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, Adolescent, Pediatric endocrinology, Disease, Severity of Illness Index, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, 030225 pediatrics, X-linked adrenal hypoplasia congenita, Epidemiology, Adrenal insufficiency, Humans, Medicine, Congenital adrenal hyperplasia, 030212 general & internal medicine, Israel, Child, Retrospective Studies, business.industry, Infant, Newborn, Infant, Adrenal crisis, Prognosis, medicine.disease, Logistic Models, Child, Preschool, Pediatrics, Perinatology and Child Health, Population study, Female, medicine.symptom, business, Adrenal Insufficiency

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cebe70b834bbdb367691b3f5df640749
https://doi.org/10.1007/s00431-019-03348-1

المؤلفون: Alia M. Al Amer, Ali S. Alzahrani, Khloud M. Al Rubaya

المصدر: Saudi Medical Journal

مصطلحات موضوعية: Male, Hydrocortisone, Physiology, Monozygotic twin, Case Report, Genetic Counseling, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, X-linked adrenal hypoplasia congenita, Renin, Adrenal insufficiency, Diseases in Twins, Medicine, Humans, Congenital adrenal hyperplasia, 030212 general & internal medicine, Pathology, Molecular, Child, Aldosterone, Progesterone, business.industry, DAX-1 Orphan Nuclear Receptor, Infant, Newborn, Adrenal crisis, Infant, General Medicine, Twins, Monozygotic, medicine.disease, Hypoplasia, Hypoadrenocorticism, Familial, Mutation, DAX1, medicine.symptom, business, Hypoaldosteronism, Biomarkers

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cf74e9aad252dc34cdbc77b5a2d71fe
http://europepmc.org/articles/PMC6452601

المؤلفون: Nathalia Lisboa Gomes, Mauro Antonio Czepielewski, Berenice Bilarinho De Mendonca, Leila Cristina Pedroso de Paula

المصدر: Journal of the Endocrine Society

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Pediatric Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, X-linked adrenal hypoplasia congenita, Pediatric Endocrine Case Reports II, Medicine, business, medicine.disease, AcademicSubjects/MED00250

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d79cded831be578a32cd56d68744d0ba
https://doi.org/10.1210/jendso/bvaa046.1492