Literature DB >> 20447142

Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome.

C Palka, R Giuliani, F Brancati, A Mohn, A Di Muzio, O Calabrese, A Huebner, D De Grandis, F Chiarelli, A Ferlini, L Stuppia.   

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Year:  2010        PMID： 20447142     DOI： 10.1111/j.1399-0004.2009.01348.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  10 in total

1.  Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome.

Authors:  Miroslav Dumic; Nina Barišic; Vesna Kusec; Katarina Stingl; Mate Skegro; Andrija Stanimirovic; Katrin Koehler; Angela Huebner
Journal:  Eur J Pediatr       Date:  2012-04-28       Impact factor: 3.183

2.  Neurological Phenotypes Associated with AAAS-Related Disorders: Spastic Ataxia and Complex Spastic Paraplegia.

Authors:  Cláudia Fernandes Lorea; Renata Barreto Tenório; Michel Koenig; Angela Huebner; Katrin Koehler; David Devos; Claire Guissart; Jonas Alex Morales Saute
Journal:  Cerebellum       Date:  2020-06       Impact factor: 3.847

3.  Low bone mineral density for age/osteoporosis in triple A syndrome-an overlooked symptom of unexplained etiology.

Authors:  M Dumic; N R Putarek; V Kusec; N Barisic; K Koehler; A Huebner
Journal:  Osteoporos Int       Date:  2015-08-05       Impact factor: 4.507

4.  Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases.

Authors:  Wenjing Li; Chunxiu Gong; Zhan Qi; D I Wu; Bingyan Cao
Journal:  Exp Ther Med       Date:  2015-08-10       Impact factor: 2.447

5.  Triple A (Allgrove) syndrome: an unusual association with syringomyelia.

Authors:  Carla Bizzarri; Danila Benevento; Cesare Terzi; Angela Huebner; Marco Cappa
Journal:  Ital J Pediatr       Date:  2013-06-24       Impact factor: 2.638

6.  Phenotype-genotype spectrum of AAA syndrome from Western India and systematic review of literature.

Authors:  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
Journal:  Endocr Connect       Date:  2017-11       Impact factor: 3.335

7.  AAA Syndrome, Case Report of a Rare Disease.

Authors:  S Waqar H Shah; Arshad K Butt; K Malik; Altaf Alam; Adnan Shahzad; Anwaar A Khan
Journal:  Pak J Med Sci       Date:  2017 Nov-Dec       Impact factor: 1.088

8.  Whole-exome sequencing reveals common and rare variants in immunologic and neurological genes implicated in achalasia.

Authors:  Quanlin Li; Weifeng Chen; Cheng Wang; Zuqiang Liu; Yayun Gu; Xiaoyue Xu; Jiaxing Xu; Tao Jiang; Meidong Xu; Yifeng Wang; Congcong Chen; Yunshi Zhong; Yiqun Zhang; Liqing Yao; Guangfu Jin; Zhibin Hu; Pinghong Zhou
Journal:  Am J Hum Genet       Date:  2021-06-30       Impact factor: 11.025

9.  4A syndrome: ocular surface investigation in an Italian young patient.

Authors:  Pasquale Aragona; Laura Rania; Anna Maria Roszkowska; Domenico Puzzolo; Antonio Micali; Antonina Pisani; Giuseppina Salzano; Maria Francesca Messina
Journal:  BMC Ophthalmol       Date:  2014-12-08       Impact factor: 2.209

10.  Clinical and molecular report of c.1331 + 1G > A mutation of the AAAS gene in a Moroccan family with Allgrove syndrome: a case report.

Authors:  H Berrani; T Meskini; M Zerkaoui; H Merhni; S Ettair; A Sefiani; N Mouane
Journal:  BMC Pediatr       Date:  2018-06-04       Impact factor: 2.125
  10 in total

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