Works matching Congenital adrenal hyperplasia and genetics

Results: 137

Long‐Read Sequencing Identifying the Genetic Complexity of Congenital Adrenal Hyperplasia in the Pedigree.

Published in:

2024

By:

Chen, Ximin;
Zhao, Jing;
Li, Danhua;
Xi, Na;
Yi, Danying;
Yan, Mengjia;
Yin, Yan;
Wang, Xueyan

Publication type:

Case Study

An Update on the Molecular Genetics of Congenital Adrenal Hyperplasia: Diagnostic and Therapeutic Aspects.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 1998, v. 11, n. 5, p. 581, doi. 10.1515/jpem.1998.11.5.581

By:

Wedell, Anna

Publication type:

Article

Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): implications for diagnosis, prognosis and treatment.

Published in:

1998

By:

Wedell, A

Publication type:

journal article

Congenital Adrenal Hyperplasia: From Genetics and Biochemistry to Clinical Practice, Part 2.

Published in:

Clinical Pediatrics, 2001, v. 40, n. 3, p. 125, doi. 10.1177/000992280104000301

By:

Collett-Solberg, Paulo Ferrez

Publication type:

Article

Congenital Adrenal Hyperplasia: From Genetics and Biochemistry to Clinical Practice, Part 1.

Published in:

Clinical Pediatrics, 2001, v. 40, n. 1, p. 1, doi. 10.1177/000992280104000101

By:

Collett-Solberg, Paulo Ferrez

Publication type:

Article

The importance and implications of preconception genetic testing for accurate fetal risk estimation in 21-hydroxylase congenital adrenal hyperplasia (CAH).

Published in:

Gynecological Endocrinology, 2019, v. 35, n. 1, p. 28, doi. 10.1080/09513590.2018.1490399

By:

Rama Chandran, Suresh;
Loh, Lih Ming

Publication type:

Article

Copy Number Variations in Genetic Diagnosis of Congenital Adrenal Hyperplasia Children.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.785570

By:

Tolba, Aisha;
Mandour, Iman;
Musa, Noha;
Elmougy, Fatma;
Hafez, Mona;
Abdelatty, Sahar;
Ibrahim, Amany;
Soliman, Hend;
Labib, Bahaaeldin;
Elshiwy, Yasmine;
Ramzy, Tarek;
Elsharkawy, Marwa

Publication type:

Article

Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Published in:

2011

By:

Finkielstain, Gabriela P;
Chen, Wuyan;
Mehta, Sneha P;
Fujimura, Frank K;
Hanna, Reem M;
Van Ryzin, Carol;
McDonnell, Nazli B;
Merke, Deborah P

Publication type:

journal article

<italic>CYP21A2</italic> genetic profile in 14 Egyptian children with suspected congenital adrenal hyperplasia: a diagnostic challenge.

Published in:

Annals of the New York Academy of Sciences, 2018, v. 1415, n. 1, p. 11, doi. 10.1111/nyas.13540

By:

Elmougy, Fatma;
Sharaf, Sahar;
Hafez, Mona;
Khattab, Ahmed;
Abou‐Yousef, Hazem;
Elsharkawy, Marwa;
Baz, Heba;
Ekladious, Sherif;
Sherif, Balsam;
Musa, Noha;
Elshiwy, Yasmin;
Afif, Alaa;
Abdullatif, Mona;
Thabet, Ghada;
Rady, Normeen;
Ibrahim, Amany;
Soliman, Hend

Publication type:

Article

Genetics in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency and Clinical Implications.

Published in:

Journal of the Endocrine Society, 2025, v. 9, n. 3, p. 1, doi. 10.1210/jendso/bvaf018

By:

Concolino, Paola;
Falhammar, Henrik

Publication type:

Article

From hirsutism and menstrual issues to congenital adrenal hyperplasia: is genetic testing a stepping stone for 3-beta-hydroxysteroid dehydrogenase type 2 deficiency?

Published in:

Obstetrică şi Ginecologie, 2024, v. 72, n. 1, p. 5

By:

Şandru, Florica;
Gheorghe, Ana-Maria;
Petrova, Eugenia;
Petca, Aida;
Petca, Răzvan-Cosmin;
Dumitrașcu, Mihai-Cristian;
Nistor, Claudiu;
Carsote, Mara

Publication type:

Article

Clinical, biochemical and genetic characteristics of children with congenital adrenal hyperplasia due to 17α-hydroxylase deficiency.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 8, p. 1051, doi. 10.1515/jpem-2020-0050

By:

Asirvatham, Adlyne Reena;
Balachandran, Karthik;
Jerome, Packiamary;
Venkatesan, Vettriselvi;
Koshy, Teena;
Mahadevan, Shriraam

Publication type:

Article

Experience with Long-term Glucocorticoid Treatment in Congenital Adrenal Hyperplasia: Growth Pattern Compared with Genetic Height Potential.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2006, v. 19, n. 3, p. 245, doi. 10.1515/jpem.2006.19.3.245

By:

Aycan, Zehra;
Ocal, Gonul;
Berberoglu, Merih;
Cetinkaya, Ergun;
Adiyaman, Pelin;
Evliyaoglu, Olcay

Publication type:

Article

Neonatal Screening for Congenital Adrenal Hyperplasia in Indian Newborns with Reflex Genetic Analysis of 21-Hydroxylase Deficiency.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 1, p. 9, doi. 10.3390/ijns9010009

By:

Tippabathani, Jayakrishna;
Seenappa, Venu;
Murugan, Alagupandian;
Phani, Nagaraja Mahishi;
Hampe, Mahesh H.;
Appaswamy, Giridharan;
Sadashiv Gambhir, Prakash

Publication type:

Article

Genetics and Pathophysiology of Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2025, v. 110, p. S1, doi. 10.1210/clinem/dgae535

By:

Yang, Ming;
White, Perrin C

Publication type:

Article

Clinical applications of genetic analysis and liquid chromatography tandem-mass spectrometry in rare types of congenital adrenal hyperplasia.

Published in:

BMC Endocrine Disorders, 2021, v. 21, n. 1, p. 1, doi. 10.1186/s12902-021-00901-8

By:

Li, Zhuoguang;
Liang, Yan;
Du, Caiqi;
Yu, Xiao;
Hou, Ling;
Wu, Wei;
Ying, Yanqing;
Luo, Xiaoping

Publication type:

Article

A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutations.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2018, v. 10, n. 3, p. 206, doi. 10.4274/jcrpe.0032

By:

Kardelen, Aslı Derya;
Toksoy, Güven;
Baş, Firdevs;
Abalı, Zehra Yavaş;
Gençay, Genco;
Poyrazoğlu, Şükran;
Bundak, Rüveyde;
Altunoğlu, Umut;
Avcı, Şahin;
Najaflı, Adam;
Uyguner, Oya;
Karaman, Birsen;
Başaran, Seher;
Darendeliler, Feyza

Publication type:

Article

Analysis of common genetic mutations in a cohort of children with salt wasting form of Congenital Adrenal Hyperplasia.

Published in:

2020

By:

Somasundaram, Praveenan;
Hewage, Asanka Sudeshini;
de Silva, Kirikankanange Shamya Harshini;
Tennekoon, Kamani Hemamala;
Somasundaram, Praveenan S;
Hewage, Sudeshini H;
De Silva, Harshini D

Publication type:

journal article

Prenatal diagnosis of congenital lipoid adrenal hyperplasia (CLAH) by estriol amniotic fluid analysis and molecular genetic testing.

Published in:

Prenatal Diagnosis, 2008, v. 28, n. 1, p. 11, doi. 10.1002/pd.1906

By:

Jean, Amy;
Mansukhani, Mahesh;
Oberfield, Sharon E.;
Fennoy, Ilene;
Nakamoto, Jon;
Atwan, Maha;
Lerer, Israela;
Neriah, Ziva Ben;
Zangen, David H.;
Chung, Wendy K.

Publication type:

Article

Comprehensive Overview of Congenital Adrenal Hyperplasia and its Genetic Diagnosis Among Children and Adolescents.

Published in:

Journal of Pediatric Endocrinology & Diabetes, 2022, v. 2, n. 3, p. 1, doi. 10.25259/JPED_4_2023

By:

Korula, Sophy;
Chapla, Aaron;
Ravichandran, Lavanya;
George, Arun

Publication type:

Article

MOLECULAR GENETIC STRATEGY FOR DIAGNOSIS OF CONGENITAL ADRENAL HYPERPLASIA IN SERBIA.

Published in:

Genetika (0534-0012), 2017, v. 49, n. 2, p. 457, doi. 10.2298/GENSR1702457U

By:

UGRIN, Milena;
MILACIC, Iva;
SKAKIC, Anita;
KLAASSEN, Kristel;
KOMAZEC, Jovana;
PAVLOVIC, Sonja;
STOJILJKOVIC, Maja

Publication type:

Article

Gender Identity Fluctuation in a Genetic Female with Late-Onset, Non-Classical Congenital Adrenal Hyperplasia.

Published in:

2019

By:

Grassi, Silvia;
Morelli, Valentina;
Arosio, Maura;
Buoli, Massimiliano

Publication type:

Letter

Gender Dysphoria in a 62-Year-Old Genetic Female With Congenital Adrenal Hyperplasia.

Published in:

2016

By:

Silveira, Mariana;
Knobloch, Felícia;
Silva Janovsky, Carolina;
Kater, Claudio;
Silveira, Mariana Telles;
Knobloch, Felícia;
Silva Janovsky, Carolina C P;
Kater, Claudio E

Publication type:

journal article

Gender Dysphoria in a Genetic Female with Non-Classical Congenital Adrenal Hyperplasia.

Published in:

2016

By:

Costa, Maria;
Lau, Eva;
Rodrigues, Pedro;
Castedo, José;
Figueiredo, Zélia;
Carvalho, Davide;
Costa, Maria Manuel;
Castedo, José Luís;
Figueiredo, Zélia

Publication type:

Letter

Comprehensive Genetic Testing of CYP21A2 : A Retrospective Analysis in Patients with Suspected Congenital Adrenal Hyperplasia.

Published in:

Journal of Clinical Medicine, 2021, v. 10, n. 6, p. 1183, doi. 10.3390/jcm10061183

By:

Nan, Madalina Nicoleta;
Roig, Rosa;
Martínez, Susana;
Rives, Jose;
Urgell, Eulàlia;
Espinós, Juan José;
Tirado, Mireia;
Carreras, Gemma;
Aulinas, Anna;
Webb, Susan M.;
Corcoy, Rosa;
Blanco-Vaca, Francisco;
Tondo, Mireia;
Zielke, Andreas

Publication type:

Article

Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene.

Published in:

Annals of Pediatric Endocrinology & Metabolism, 2024, v. 29, n. 1, p. 54, doi. 10.6065/apem.2346014.007

By:

Ji-Hee Yoon;
Soojin Hwang;
Ja Hye Kim;
Gu-Hwan Kim;
Han-Wook Yoo;
Jin-Ho Choi

Publication type:

Article

New Genetic Abnormalities in Non-21α-Hydroxylase-Deficiency Congenital Adrenal Hyperplasia.

Published in:

Sexual Development, 2013, v. 7, n. 6, p. 289, doi. 10.1159/000356948

By:

Martin, M.;
Najera, N.;
Garibay, N.;
Malanco, L.M.;
Martinez, T.;
Rivera, J.;
Rivera, M.;
Queipo, G.

Publication type:

Article

Impact of Molecular Genetics on Congenital Adrenal Hyperplasia Management.

Published in:

Sexual Development, 2010, v. 4, n. 4/5, p. 233, doi. 10.1159/000315959

By:

Balsamo, A.;
Baldazzi, L.;
Menabò, S.;
Cicognani, A.

Publication type:

Article

Progress in molecular-genetic studies on congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.

Published in:

World Journal of Pediatrics, 2008, v. 4, n. 2, p. 85, doi. 10.1007/s12519-008-0016-8

By:

Zhao, Li-Qiang;
Han, Su;
Tian, Hao-Ming

Publication type:

Article

A genetic epidemiology study of congenital adrenal hyperplasia in Italy.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 223, doi. 10.1111/cge.13078

By:

Gialluisi, A.;
Menabò, S.;
Baldazzi, L.;
Casula, L.;
Meloni, A.;
Farci, M. C.;
Mariotti, S.;
Balestrino, L.;
Ortolano, R.;
Murru, S.;
Carcassi, C.;
Loche, S.;
Balsamo, A.;
Romeo, G.

Publication type:

Article

Genetic Characterization of a Cohort of Italian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

Published in:

Molecular Diagnosis & Therapy, 2023, v. 27, n. 5, p. 621, doi. 10.1007/s40291-023-00666-x

By:

Concolino, Paola;
Perrucci, Alessia;
Carrozza, Cinzia;
Urbani, Andrea

Publication type:

Article

Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0629-2

By:

Kor, Yılmaz;
Zou, Minjing;
Al-Rijjal, Roua A.;
Monies, Dorota;
Meyer, Brian F.;
Shi, Yufei

Publication type:

Article

Congenital Adrenal Hyperplasia: Molecular Genetics and Alternative Approaches to Treatment.

Published in:

Critical Reviews in Clinical Laboratory Sciences, 1999, v. 36, n. 4, p. 329, doi. 10.1080/10408369991239222

By:

Stratakis, Constantine A.;
Rennert, Owen M.

Publication type:

Article

Clinical and Genetic Characteristics of Patients with Common and Rare Types of Congenital Adrenal Hyperplasia: Novel Variants in STAR and CYP17A1.

Published in:

Medical Bulletin of Sisli Etfal Hospital, 2022, v. 56, n. 2, p. 291, doi. 10.14744/SEMB.2021.28044

By:

Koprulu, Ozge;
Ozkan, Behzat;
Acar, Sezer;
Nalbantoglu, Ozlem;
Donmez, Beyhan Ozkaya;
Arslan, Gulcin;
Hazan, Filiz;
Gursoy, Semra

Publication type:

Article

A Genetic Isolate of Congenital Lipoid Adrenal Hyperplasia with Atypical Clinical Findings.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 2, p. 835, doi. 10.1210/jc.2004-1323

By:

Xin Chen;
Baker, Bo Y.;
Abduljabbar, Mohammad A.;
Miller, Walter L.

Publication type:

Article

Comment on congenital adrenal hyperplasia without demonstrable genetic mutations.

Published in:

1999

By:

White, Perrin C.

Publication type:

Letter

Congenital adrenal hyperplasia (21-hydroxylase deficiency) without demonstrable genetic mutations.

Published in:

1999

By:

Nimkarn, S;
Cerame, B. I.;
Wei, J. Q.;
Dumic, M.;
Zunec, R.;
Brkljacic, L.;
Skrabić, V.;
New, M. I.;
Wilson, R. C.

Publication type:

journal article

High carrier frequency of CYP21A2 gene mutations in Southern India – underscoring the need for genetic testing in Congenital Adrenal Hyperplasia.

Published in:

Endocrine (1355008X), 2024, v. 85, n. 1, p. 363, doi. 10.1007/s12020-024-03747-x

By:

Ravichandran, Lavanya;
Paul, Shriti;
A, Rekha;
HS, Asha;
Mathai, Sarah;
Simon, Anna;
Danda, Sumita;
Thomas, Nihal;
Chapla, Aaron

Publication type:

Article

Multiplex Ligation-Dependent Probe Amplification Analysis Is Useful for Diagnosing Congenital Adrenal Hyperplasia but Requires a Deep Knowledge of CYP21A2 Genetics.

Published in:

Clinical Chemistry, 2011, v. 57, n. 7, p. 1079, doi. 10.1373/clinchem.2011.162230

By:

Concolino, Paola;
Mello, Enrica;
Minucci, Angelo;
Zuppi, Cecilia;
Capoluongo, Ettore

Publication type:

Article

Rare forms of genetic paediatric adrenal insufficiency: Excluding congenital adrenal hyperplasia.

Published in:

Reviews in Endocrine & Metabolic Disorders, 2023, v. 24, n. 2, p. 345, doi. 10.1007/s11154-023-09784-7

By:

Hasenmajer, Valeria;
Ferrigno, Rosario;
Minnetti, Marianna;
Pellegrini, Bianca;
Isidori, Andrea M.;
Lenzi, Andrea;
Salerno, Mariacarolina;
Cappa, Marco;
Chan, Li;
De Martino, Maria Cristina;
Savage, Martin O.

Publication type:

Article

Fluorescent PCR and automated fragment analysis in preimplantation genetic diagnosis for 21-hydroxylase deficiency in congenital adrenal hyperplasia.

Published in:

Molecular Human Reproduction, 1999, v. 5, n. 7, p. 691, doi. 10.1093/molehr/5.7.691

By:

Van de Velde, H.;
Sermon, K.;
De Vos, A.;
Lissens, W.;
Joris, H.;
Vandervorst, M.;
Van Steirteghem, A.;
Liebaers, I.

Publication type:

Article

Congenital Adrenal Hyperplasia--A Comprehensive Review of Genetic Studies on 21-Hydroxylase Deficiency from India.

Published in:

Indian Journal of Endocrinology & Metabolism, 2024, v. 28, n. 2, p. 117, doi. 10.4103/ijem.ijem_303_23

By:

Ravichandran, Lavanya;
Asha, Hesarghatta S.;
Mathai, Sarah;
Thomas, Nihal;
Chapla, Aaron

Publication type:

Article

Prenatal Diagnosis of Congenital Lipoid Adrenal Hyperplasia (CLAH) by Molecular Genetic Testing in Korean Siblings.

Published in:

Yonsei Medical Journal, 2011, v. 52, n. 6, p. 1035, doi. 10.3349/ymj.2011.52.6.1035

By:

Hyun Sun Ko;
Seungok Lee;
Hyojin Chae;
Sae Kyung Choi;
Myungshin Kim;
In Yang Park;
Byung Kyu Suh;
Jong Chul Shin

Publication type:

Article

Corrigendum: The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency.

Published in:

2020

By:

Pignatelli, Duarte;
Carvalho, Berta L.;
Palmeiro, Aida;
Barros, Alberto;
Guerreiro, Susana G.;
Macut, Djuro

Publication type:

Correction Notice

INDUCED GENITAL ANOMALIES*.

Published in:

Annals of the New York Academy of Sciences, 1967, v. 142, n. 3, p. 755, doi. 10.1111/j.1749-6632.1967.tb14686.x

By:

Goldman, Allen S.;
Bongiovanni, Alfred M.

Publication type:

Article

The Genetics of Female and Male Infertility.

Published in:

Deutsches Ärzteblatt International, 2025, v. 122, n. 5, p. 115, doi. 10.3238/arztebl.m2024.0259

By:

Tüttelmann, Frank;
Wyrwoll, Margot Julia;
Steingröver, Johanna;
Wieacker, Peter

Publication type:

Article

Combination therapy of GnRHa, RhGH and anastrozole to improve final adult height deficit in CAH children with CPP.

Published in:

BMC Pediatrics, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12887-025-05703-8

By:

Liu, Xiaoxiao;
Liu, Fei;
Qi, Yingyi;
Han, Xinyi;
Ma, Shifeng;
Zheng, Rongxiu

Publication type:

Article

Czy można o tym porozmawiać z dzieckiem? Wrodzony przerost nadnerczy a etyka badań z dziećmi i o dzieciach.

Published in:

Etnografia. Praktyki, Teorie, Doswiadczenia, 2023, n. 9, p. 219, doi. 10.26881/etno.2023.9.12

By:

RADKOWSKA-WALKOWICZ, MAGDALENA

Publication type:

Article

Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.

Published in:

Journal of the Endocrine Society, 2021, v. 5, n. 8, p. 1, doi. 10.1210/jendso/bvab086

By:

Buonocore, Federica;
Maharaj, Avinaash;
Qamar, Younus;
Koehler, Katrin;
Suntharalingham, Jenifer P;
Chan, Li F;
Ferraz-de-Souza, Bruno;
Hughes, Claire R;
Lin, Lin;
Prasad, Rathi;
Allgrove, Jeremy;
Andrews, Edward T;
Buchanan, Charles R;
Cheetham, Tim D;
Crowne, Elizabeth C;
Davies, Justin H;
Gregory, John W;
Hindmarsh, Peter C;
Hulse, Tony;
Krone, Nils P

Publication type:

Article

Normalizing Atypical Genitalia: How a Heated Debate Went Astray.

Published in:

Hastings Center Report, 2012, v. 42, n. 6, p. 32, doi. 10.1002/hast.82

By:

Johnston, Josephine

Publication type:

Article