Works matching DE "DONOHUE syndrome"

Results: 39

Amyotrophic lateral sclerosis Donohue syndrome.

Published in:: Anaesthesiologie & Intensivmedizin, 2023, v. 64, p. S1
Publication type:: Article

Anaesthesia recommendations for Donohue syndrome.

Published in:

Anaesthesiologie & Intensivmedizin, 2023, v. 64, n. 1, p. S14, doi. 10.19224/ai2023.S014

By:

Shihurkar, Ravi;
Stuart, Grant

Publication type:

Article

Severe progressive obstructive cardiomyopathy and renal tubular dysfunction in Donohue syndrome with decreased insulin receptor autophosphorylation due to a novel INSR mutation.

Published in:

European Journal of Pediatrics, 2013, v. 172, n. 8, p. 1125, doi. 10.1007/s00431-012-1901-7

By:

Hovnik, Tinka;
Bratanič, Nevenka;
Podkrajšek, Katarina;
Kovač, Jernej;
Paro, Darja;
Podnar, Tomaž;
Bratina, Nataša;
Battelino, Tadej

Publication type:

Article

Hypertrophic cardiomyopathy in Donohue syndrome.

Published in:

2016

By:

Termote, Jacqueline U. M.;
Breur, Johannes M. P. J.;
de Vroede, Monique A. M. J.

Publication type:

journal article

Yeni bir insülin reseptör gen mutasyonunun tanımlandığı bir Donohue sendromu "Leprechaunism" olgusu.

Published in:

Türk Pediatri Arşivi, 2017, v. 52, n. 4, p. 226, doi. 10.5152/TurkPediatriArs.2017.3193

By:

Kirel, Birgül;
Bozdağ, Özkan;
Köşger, Pelin;
Aydoğdu, Sultan Durmuş;
Alıncak, Eylem;
Tekin, Neslihan

Publication type:

Article

Chronic Kidney Disease and Nonalcoholic Fatty Liver Disease--Is There a Link?

Published in:

Gastroenterology Research & Practice, 2014, p. 1, doi. 10.1155/2014/847539

By:

Orlić, L.;
Mikolasevic, I.;
Bagic, Z.;
Racki, S.;
Stimac, D.;
Milic, S.

Publication type:

Article

Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes.

Published in:

2015

By:

Pavone, Piero;
Praticò, Andrea D.;
Falsaperla, Raffaele;
Ruggieri, Martino;
Zollino, Marcella;
Corsello, Giovanni;
Neri, Giovanni

Publication type:

journal article

Correct nomenclature is important, as highlighted by inappropriate interchangeability of "leprechaunism" with Donohue syndrome.

Published in:

Pediatric Diabetes, 2021, v. 22, n. 2, p. 122, doi. 10.1111/pedi.13127

By:

Bock, Martin;
Giolláin, Diarmuid Ó;
Curran, R.J. (Bob);
Ridderbeks, Jos G.U.;
Zegers, Richard H.C.

Publication type:

Article

Enteroinsular hormones in two siblings with Donohue syndrome and complete leptin deficiency.

Published in:

Pediatric Diabetes, 2018, v. 19, n. 4, p. 675, doi. 10.1111/pedi.12619

By:

Güemes, M.;
Rahman, S. A.;
Shah, P.;
Hussain, K.

Publication type:

Article

Gastrointestinal dysmotility and pancreatic insufficiency in 2 siblings with Donohue syndrome.

Published in:

Pediatric Diabetes, 2017, v. 18, n. 8, p. 839, doi. 10.1111/pedi.12483

By:

Kostopoulou, Eirini;
Shah, Pratik;
Ahmad, Noman;
Semple, Robert;
Hussain, Khalid

Publication type:

Article

Molecular mechanisms of insulin resistance in 2 cases of primary insulin receptor defect-associated diseases.

Published in:

Pediatric Diabetes, 2017, v. 18, n. 8, p. 917, doi. 10.1111/pedi.12508

By:

Tsuji‐Hosokawa, Atsumi;
Takasawa, Kei;
Nomura, Risa;
Miyakawa, Yuichi;
Numakura, Chikahiko;
Hijikata, Atsushi;
Shirai, Tsuyoshi;
Ogawa, Yoshihiro;
Kashimada, Kenichi;
Morio, Tomohiro

Publication type:

Article

Polycystic ovary morphology is associated with insulin resistance in women with polycystic ovary syndrome.

Published in:

Clinical Endocrinology, 2017, v. 87, n. 4, p. 375, doi. 10.1111/cen.13380

By:

Hong, So‐hyeon;
Sung, Yeon‐Ah;
Hong, Young Sun;
Jeong, Kyungah;
Chung, Hyewon;
Lee, Hyejin

Publication type:

Article

Obstructive sleep apnoea and polycystic ovary syndrome: A comprehensive review of clinical interactions and underlying pathophysiology.

Published in:

Clinical Endocrinology, 2017, v. 87, n. 4, p. 313, doi. 10.1111/cen.13392

By:

Kahal, Hassan;
Kyrou, Ioannis;
Tahrani, Abd A.;
Randeva, Harpal S.

Publication type:

Article

Inflammation but not obesity or insulin resistance is associated with increased plasma fibroblast growth factor 23 concentration in the elderly.

Published in:

Clinical Endocrinology, 2015, v. 82, n. 6, p. 900, doi. 10.1111/cen.12759

By:

Holecki, Michał;
Chudek, Jerzy;
Owczarek, Aleksander;
Olszanecka‐Glinianowicz, Magdalena;
Bożentowicz‐Wikarek, Maria;
Duława, Jan;
Mossakowska, Małgorzata;
Zdrojewski, Tomasz;
Skalska, Anna;
Więcek, Andrzej

Publication type:

Article

Effect of maternal age at childbirth on insulin resistance: the 2010 Korean National Health and Nutrition Examination Survey.

Published in:

Clinical Endocrinology, 2015, v. 82, n. 6, p. 824, doi. 10.1111/cen.12712

By:

Yun, Kyung‐Jin;
Han, Kyungdo;
Kim, Mee Kyoung;
Park, Young‐Moon;
Baek, Ki‐Hyun;
Song, Ki‐Ho;
Kil, Kicheol;
Kwon, Hyuk‐Sang

Publication type:

Article

Status of Homocysteine in Polycystic Ovary Syndrome (PCOS).

Published in:

Journal of Clinical & Diagnostic Research, 2014, v. 8, n. 2, p. 31, doi. 10.7860/JCDR/2014/7070.3999

By:

MALEEDHU, PRIYANKA;
VIJAYABHASKAR, M.;
SHARMA, S. S. B.;
KODUMURI, PRAVEEN K.;
VASUNDHARA, DEVI D.

Publication type:

Article

Rabson Mendenhall Syndrome caused by a novel missense mutation.

Published in:

International Journal of Pediatric Endocrinology, 2016, v. 2016, p. 1, doi. 10.1186/s13633-016-0039-1

By:

Sinnarajah, Krishnapradeep;
Dayasiri, M. B. K. C.;
Dissanayake, N. D. W.;
Kudagammana, S. T.;
Jayaweera, A. H. H. M.

Publication type:

Article

Genetics Corner: Donohue Syndrome in a Small for Gestational Age Infant with Hyperinsulinemia.

Published in:

Neonatology Today, 2022, v. 17, n. 3, p. 146, doi. 10.51362/neonatology.today/2022173146150

By:

Tam, Jonathan;
Chan, Tiffany;
Vasquez, Herbert;
Clark, Robin D.

Publication type:

Article

Donohue syndrome: A review of literature, case series, and anesthetic considerations.

Published in:

Pediatric Anesthesia, 2018, v. 28, n. 1, p. 23, doi. 10.1111/pan.13273

By:

Kirkwood, Alana;
Stuart, Grant;
Harding, Louise

Publication type:

Article

Computational Analysis of Damaging Single-Nucleotide Polymorphisms and Their Structural and Functional Impact on the Insulin Receptor.

Published in:

BioMed Research International, 2016, v. 2016, p. 1, doi. 10.1155/2016/2023803

By:

Mahmud, Zabed;
Malik, Syeda Umme Fahmida;
Ahmed, Jahed;
Azad, Abul Kalam

Publication type:

Article

A Rare Case of Donohue Syndrome in a Neonate: A Case Report.

Published in:

2021

By:

Norouzi, A. R.;
Norouzi, H. R.;
Norouzi, F.;
Darzi, F. Jokar;
Alaee, E.;
Teymoordash, S. Noei

Publication type:

Case Study

A Male with Extreme Subcutaneous Insulin Resistance: A Case Report.

Published in:

Romanian Journal of Diabetes Nutrition & Metabolic Diseases, 2016, v. 23, n. 2, p. 209, doi. 10.1515/rjdnmd-2016-0025

By:

Ahmed, Zuhayer;
Prasad, Indrajit;
Rahman, Hafizur;
Ansari, Jalil;
Hassan, Khaled

Publication type:

Article

Syndrome of Congenital Insulin Resistance Caused by a Novel INSR Gene Mutation.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2023, v. 15, n. 3, p. 312, doi. 10.4274/jcrpe.galenos.2021.2021.0256

By:

Rojek, Aleksandra;
Wikiera, Beata;
Noczynska, Anna;
Niedziela, Marek

Publication type:

Article

One Novel 2.43Kb Deletion and One Single Nucleotide Mutation of the INSR Gene in a Chinese Neonate with Rabson-Mendenhall Syndrome.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2018, v. 10, n. 2, p. 183, doi. 10.4274/jcrpe.5080

By:

Xiang Chen;
Wenhao Zhou;
Huijun Wang;
Bingbing Wu;
Xinran Dong;
Bo Liu;
Hongbo Chen;
Yulan Lu;
Lin Yang

Publication type:

Article

Leprechaunism / Donohue syndrome / insulin receptor gene mutations: a syndrome delineation story from clinicopathological description to molecular understanding.

Published in:

European Journal of Pediatrics, 1997, v. 156, n. 4, p. 253

By:

Kosztolányi, G.

Publication type:

Article

Images.

Published in:

Indian Pediatrics, 2015, v. 52, n. 8, p. 723, doi. 10.1007/s13312-015-0708-9

By:

Kumar, Piyush;
Savant, Sushil;
Kansal, Naveen;
Agarwal, Saurabh;
Ghosh, Urmi;
Mathai, Sarah

Publication type:

Article

Development of Endometrial Carcinoma in a Patient with Leprechaunism (Donohue Syndrome).

Published in:

Clinical Pediatric Endocrinology, 2013, v. 22, n. 2, p. 33, doi. 10.1297/cpe.22.33

By:

Jo, Wakako;
Sudo, Satoko;
Nakamura, Akie;
Endo, Daisuke;
Konno, Yosuke;
Ishizu, Katsura;
Tajima, Toshihiro

Publication type:

Article

First molecular diagnosis of Donohue syndrome in Africa: novel unusual insertion/deletion mutation in the INSR gene.

Published in:

Molecular Biology Reports, 2016, v. 43, n. 3, p. 165, doi. 10.1007/s11033-016-3951-9

By:

Siala-Sahnoun, Olfa;
Dhieb, Dhoha;
Ben Thabet, Afef;
Hmida, Nedia;
Belguith, Neila;
Fakhfakh, Faiza

Publication type:

Article

Identification of a Novel Homozygous INSR Variant in a Patient with Rabson-Mendenhall Syndrome from the United Arab Emirates.

Published in:

Hormone Research in Paediatrics, 2017, v. 87, n. 1, p. 64, doi. 10.1159/000447090

By:

Bastaki, Fatma;
Nair, Pratibha;
Mohamed, Madiha;
Khadora, Manal Mustafa;
Saif, Fatima;
Tawfiq, Nafisa;
al-ali, Mahmoud Taleb;
Hamzeh, abdul Rezzak

Publication type:

Article

Identification and Functional Characterization of Two Novel Nonsense Mutations in the β-Subunit of INSR That Cause Severe Insulin Resistance Syndrome.

Published in:

Hormone Research in Paediatrics, 2015, v. 84, n. 2, p. 73, doi. 10.1159/000381624

By:

Choi, Jin-Ho;
Kang, Minji;
Kim, Ja Hye;
Cho, Jahyang;
Kim, Gu-Hwan;
Yoo, Han-Wook

Publication type:

Article

AN INFANT WITH LEPRECHAUNISM, AMBIGUOUS GENITALIA AND POOR GLYCEMIC CONTROL: A MANAGEMENT CHALLENGE.

Published in:

2014

By:

Mohamed, S.

Publication type:

Case Study

Structural Basis and Genotype–Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.

Published in:

Diabetes, 2017, v. 66, n. 10, p. 2713, doi. 10.2337/db17-0301

By:

Jun Hosoe;
Hiroko Kadowaki;
Fuyuki Miya;
Katsuya Aizu;
Tomoyuki Kawamura;
Ichiro Miyata;
Kenichi Satomura;
Takeru Ito;
Kazuo Hara;
Masaki Tanaka;
Hiroyuki Ishiura;
Shoji Tsuji;
Ken Suzuki;
Minaka Takakura;
Boroevich, Keith A.;
Tatsuhiko Tsunoda;
Toshimasa Yamauchi;
Nobuhiro Shojima;
Takashi Kadowaki

Publication type:

Article

Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.

Published in:

2017

By:

Hosoe, Jun;
Kadowaki, Hiroko;
Miya, Fuyuki;
Aizu, Katsuya;
Kawamura, Tomoyuki;
Miyata, Ichiro;
Satomura, Kenichi;
Ito, Takeru;
Hara, Kazuo;
Tanaka, Masaki;
Ishiura, Hiroyuki;
Tsuji, Shoji;
Suzuki, Ken;
Takakura, Minaka;
Boroevich, Keith A;
Tsunoda, Tatsuhiko;
Yamauchi, Toshimasa;
Shojima, Nobuhiro;
Kadowaki, Takashi

Publication type:

journal article

Mecasermin in Insulin Receptor-Related Severe Insulin Resistance Syndromes: Case Report and Review of the Literature.

Published in:

International Journal of Molecular Sciences, 2018, v. 19, n. 5, p. 1268, doi. 10.3390/ijms19051268

By:

Plamper, Michaela;
Gohlke, Bettina;
Schreiner, Felix;
Woelfle, Joachim

Publication type:

Article

Rabson Mendenhall Syndrome-A Dilemma to Treat in a Resource Poor Country.

Published in:

2016

By:

Tabassum, Shehla;
Masood, Qamar;
Kirmani, Salman

Publication type:

Case Study

Ketosis Onset Type 2 Diabetes Had Better Islet β-Cell Function and More Serious Insulin Resistance.

Published in:

Journal of Diabetes Research, 2014, p. 1, doi. 10.1155/2014/510643

By:

Hongyun Lu;
Fang Hu;
Yingjuan Zeng;
Lingling Zou;
Shunkui Luo;
Ying Sun;
Hong Liu;
Liao Sun

Publication type:

Article

Insulin Resistance, Type 1 and Type 2 Diabetes, and Related Complications: Current Status and Future Perspective.

Published in:

2014

By:

Ndisang, Joseph Fomusi;
Rastogi, Sharad;
Vannacci, Alfredo

Publication type:

Editorial

Donohue Sendromu (Leprechaunism): Vaka Sunumu.

Published in:

Journal of the Child / Çocuk Dergisi, 2012, v. 12, n. 4, p. 189, doi. 10.5222/j.child.2012.189

By:

TUTAR, Engin;
KARAKAŞ, Ayşe;
BORAN, Perran;
BERK, Berkin;
BAYAR GÜVEN, Serçin

Publication type:

Article

MORFAN syndrome: A rarity but a reality!

Published in:

Indian Journal of Dermatology, 2019, v. 64, n. 3, p. 231, doi. 10.4103/ijd.IJD_160_19

By:

Roy, Gourab;
Sen, Sumit;
Poddar, Shreya

Publication type:

Article