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Select item 57057861.

Phenotype–genotype spectrum of AAA syndrome from Western India and systematic review of literature

Hiren Patt, Katrin Koehler, Sailesh Lodha, Swati Jadhav, Chaitanya Yerawar, Angela Huebner, Kunal Thakkar, Sneha Arya, Sandhya Nair, Manjunath Goroshi, Hosahithlu Ganesh, Vijaya Sarathi, Anurag Lila, Tushar Bandgar, Nalini Shah

Endocr Connect. 2017 Nov; 6(8): 901–913. Published online 2017 Oct 25. doi: 10.1530/EC-17-0255

PMCID:: PMC5705786

Article PDF–1.1M

Select item 86338712.

The Retina in Patients With Triple A Syndrome: A Window Into Neurodegeneration?

Fiorenza Ulgiati, Sophie Lhoir, Irina Balikova, Sylvie Tenoutasse, Emese Boros, Catheline Vilain, Claudine Heinrichs, Cécile Brachet

Front Endocrinol (Lausanne) 2021; 12: 729056. Published online 2021 Nov 12. doi: 10.3389/fendo.2021.729056

PMCID:: PMC8633871

Article PDF–608K

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Triple A syndrome presenting as complicated hereditary spastic paraplegia

Etienne Leveille, Hernan D. Gonorazky, Marie‐France Rioux, Lili‐Naz Hazrati, Jennifer A. Ruskey, Amanda Carnevale, Dan Spiegelman, Alexandre Dionne‐Laporte, Guy A. Rouleau, Grace Yoon, Ziv Gan‐Or

Mol Genet Genomic Med. 2018 Nov; 6(6): 1134–1139. Published online 2018 Oct 31. doi: 10.1002/mgg3.492

PMCID:: PMC6305671

Article PDF–575K

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High-Resolution Transcript Map of the Region Spanning D12S1629 and D12S312 at Chromosome 12q13: Triple A Syndrome-Linked Region

Hyoungnam Lee, Eunkyung Choi, Young Seomun, K. Montgomery, A. Huebner, Eunice Lee, Stephanie Lau, Choun-Ki Joo, R. Kucherlapati, Sung-Joo Kim Yoon

Genome Res. 2000 Oct; 10(10): 1561–1567. doi: 10.1101/gr.142100

PMCID:: PMC310951

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Select item 89194785.

A Novel Variant in Triple A Syndrome

E. Demet Akbaş, Ö. Özalp Yüreğir, Ö. Anlaş, Z. Özçelik, O. Zerrin Tolunay

Acta Endocrinol (Buchar) 2021 Jul-Sep; 17(3): 399–401. Published online 2021. doi: 10.4183/aeb.2021.399

PMCID:: PMC8919478

Article PDF–435K

Select item 109679456.

Fertility and sexual activity in patients with Triple A syndrome

Katja K. Dumic, Claudine Heinrichs, Katrin Koehler, Angela Huebner, Miroslav Dumic, Vesna Kusec, Tina Dusek, Friederike Quitter

Front Endocrinol (Lausanne) 2024; 15: 1357084. Published online 2024 Mar 13. doi: 10.3389/fendo.2024.1357084

PMCID:: PMC10967945

Article PDF–361K

Select item 86483367.

Mineralocorticoid Deficiency as an Early Presenting Symptom of Allgrove Syndrome With Novel Mutation: A Case Report

Hashem A AlOmran, Fadi Busaleh, Zahra Alhashim, Manal AlHelal, Yasen Alsaleh, Aida AlJabri, Zahra A AlGhadeer, Fatimah Y AlHejji, Mousa AlMazeedi, Abdulelah M Al dandan

Cureus. 2021 Nov; 13(11): e19316. Published online 2021 Nov 6. doi: 10.7759/cureus.19316

PMCID:: PMC8648336

Article PDF–94K

Select item 93361038.

Recurrent pulmonary infection leads to the diagnosis of triple A syndrome: a case report

Sawssan Ali, M. Subhi Murad, Humam Hamdan, Wael Nakawa

J Med Case Rep. 2022; 16: 304. Published online 2022 Jul 28. doi: 10.1186/s13256-022-03509-1

PMCID:: PMC9336103

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Select item 4592279.

Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report

Brian P Brooks, Robert Kleta, Rafael C Caruso, Caroline Stuart, Jonathan Ludlow, Constantine A Stratakis

BMC Ophthalmol. 2004; 4: 7. Published online 2004 Jun 24. doi: 10.1186/1471-2415-4-7

PMCID:: PMC459227

Article PDF–676K

Select item 644743310.

Triple A Syndrome: Two Siblings with a Novel Mutation in the AAAS Gene

Athanasia Bouliari, Xuexin Lu, Rebecca W. Persky, Constantine A. Stratakis

Hormones (Athens) Author manuscript; available in PMC 2020 Mar 1.

Published in final edited form as: Hormones (Athens). 2019 Mar; 18(1): 109–112. Published online 2019 Jan 5. doi: 10.1007/s42000-018-0089-2

PMCID:: PMC6447433

Article PDF–381K

Select item 1069449711.

Generation of glucocorticoid-producing cells derived from human pluripotent stem cells

Gerard Ruiz-Babot, Ariane Eceiza, Fernando Abollo-Jiménez, Maria Malyukov, Diana L. Carlone, Kleiton Borges, Alexandra Rodrigues Da Costa, Shamma Qarin, Takuya Matsumoto, Ryuji Morizane, William C. Skarnes, Barbara Ludwig, Paul J. Chapple, Leonardo Guasti, Helen L. Storr, Stefan R. Bornstein, David T. Breault

Cell Rep Methods. 2023 Nov 20; 3(11): 100627. Published online 2023 Nov 3. doi: 10.1016/j.crmeth.2023.100627

PMCID:: PMC10694497

Article PDF–7.8M

Select item 929487112.

Triple A syndrome-related achalasia treated by per-oral endoscopic myotomy: Three case reports

Feng-Chen Liu, Yun-Lu Feng, Ai-Ming Yang, Tao Guo

World J Clin Cases. 2022 Jul 6; 10(19): 6529–6535. Published online 2022 Jul 6. doi: 10.12998/wjcc.v10.i19.6529

PMCID:: PMC9294871

Article PDF–406K

Select item 859452913.

Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature Review

Daniel I. Weiman, Meredith K. Gillespie, Taila Hartley, Matthew Osmond, Yoko Ito, Care4Rare Canada Consortium, Kym M. Boycott, Kristin D. Kernohan, Matthew Lines, Hugh J. McMillan

Child Neurol Open. 2021 Jan-Dec; 8: 2329048X211031059. Published online 2021 Oct 4. doi: 10.1177/2329048X211031059

PMCID:: PMC8594529

Article PDF–624K

Select item 738080714.

Triple A syndrome (Allgrove syndrome) – A journey from clinical symptoms to a syndrome

Prakarti Yadav, Deepak Kumar, Gopal K. Bohra, Mahendra K. Garg

J Family Med Prim Care. 2020 May; 9(5): 2531–2534. Published online 2020 May 31. doi: 10.4103/jfmpc.jfmpc_237_20

PMCID:: PMC7380807

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Select item 779416515.

Spectral Domain – Optical Coherence Tomography findings in Triple-A Syndrome – A case series from Pakistan

Javeria Nasir, Anum Javed, Owais Arshad, Mohammad Hanif Chatni

Pak J Med Sci. 2021 Jan-Feb; 37(1): 267–271. doi: 10.12669/pjms.37.1.3310

PMCID:: PMC7794165

Article PDF–496K

Select item 401745716.

A 12 year old boy with recurrent episodes of pneumonia: triple A syndrome

Baran Parhizkar, Nakisa Maghsoodi, Mojgan Forootan, Amir Hosein Entezari

Gastroenterol Hepatol Bed Bench. 2012 Spring; 5(2): 112–115.

PMCID:: PMC4017457

Article PDF–189K

Select item 302737817.

Triple A syndrome: two novel mutations in the AAAS gene

Susanne Thümmler, Angela Huebner, Elisabeth Baechler-Sadoul

BMJ Case Rep. 2009; 2009: bcr09.2008.0984. Published online 2009 Apr 7. doi: 10.1136/bcr.09.2008.0984

PMCID:: PMC3027378

Article

Select item 363849618.

Longitudinal Neuropsychological Profile in a Patient with Triple A Syndrome

Luigi Mazzone, Valentina Postorino, Lavinia De Peppo, Lia Vassena, Laura Fatta, Marco Armando, Giuseppe Scirè, Marco Cappa, Stefano Vicari

Case Rep Pediatr. 2013; 2013: 604921. Published online 2013 Apr 9. doi: 10.1155/2013/604921

PMCID:: PMC3638496

Article PDF–489K

Select item 862619319.

Bilateral Recurrent Laryngeal Nerve Palsy following Total Thyroidectomy in Triple A Syndrome, an Unexpected but Critical Complication

Mathieu Chamberland, Marc-Antoine Poulin, Danielle Beaudoin

Case Rep Otolaryngol. 2021; 2021: 1315117. Published online 2021 Nov 19. doi: 10.1155/2021/1315117

PMCID:: PMC8626193

Article PDF–313K

Select item 623029720.

Triple A patient cells suffering from mitotic defects fail to localize PGRMC1 to mitotic kinetochore fibers

Ramona Jühlen, Dana Landgraf, Angela Huebner, Katrin Koehler

Cell Div. 2018; 13: 8. Published online 2018 Nov 10. doi: 10.1186/s13008-018-0041-5

PMCID:: PMC6230297

Article PDF–1.9M

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PMC Images search for Triple A syndrome

Figure 1

Report of triple X syndrome

Premature ovarian aging in primary infertility: Triple X syndrome

J Hum Reprod Sci. 2011 Sep-Dec;4(3):153-154.
Fig. 3

Incidence of Triple X syndrome, Klinefelter syndrome and Double Y syndrome. Incidence of a Triple X syndrome; b Klinefelter syndrome; and c Double Y syndrome per million females or males during 1970–2014. Solid lines illustrate time trend in incidence during the 1970–2014. P-values indicate the significance level of time trend in incidence

Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study

Orphanet J Rare Dis. 2019;14:16.
Figure 1

Karyotype 47, XX + 21 of the daughter of Triple X syndrome

Triple X Egyptian woman and a Down's syndrome offspring

Indian J Hum Genet. 2013 Jan-Mar;19(1):111-112.
FIG. 1

Age at diagnosis of Triple X Syndrome. [Color figure can be viewed at wileyonlinelibrary.com].

Expanding the Phenotype of Triple X Syndrome: A Comparison of Prenatal Versus Postnatal Diagnosis

Am J Med Genet A. ;170(11):2870-2881.