Publications by authors named "Alexandra Topa"

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The Development of a European Registry for Facial Dysostosis Syndromes: A Delphi-Guided Approach.
Victor L van Roey, Saranda Ombashi, Irene M J Mathijssen, Åsa A Munkhammar, Pamela M Åsten, Alexandra Topa

J Craniofac Surg· December 2025

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Time-motion study in primary health care in moldova: How do family doctors and medical assistants spend their work time?
Altiona Muho, Jari Kempers, Alexandra Topa, Ala Curteanu, Ghenadie Curocichin

PLoS One· April 2025

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A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities.
Jesper Eisfeldt, Adam Ameur, Felix Lenner, Esmee Ten Berk de Boer, Marlene Ek, Alexandra Topa

Genome Res· November 2024

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The value of genome-wide analysis in craniosynostosis.
Alexandra Topa, Anna Rohlin, André Fehr, Lovisa Lovmar, Göran Stenman

Front Genet· January 2024

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Does training on the WHO package of essential noncommunicable (PEN) disease interventions enhance consultation quality? A real-world assessment of adherence to PEN protocol in primary health centres in the Republic of Moldova.
Jari Kempers, Cristina Rotaru, Alexandra Topa, Natalia Zarbailov, Ala Curteanu

Glob Health Action· December 2023

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The outcome of targeted NGS screening in patients with syndromic forms of sagittal and pansynostosis - IL11RA is an emerging core-gene for pansynostosis.
Alexandra Topa, Anna Rohlin, Mattias K Andersson, André Fehr, Lovisa Lovmar

Eur J Med Genet· May 2022

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Children and young adults with anophthalmia and microphthalmia: Diagnosis and Management.
Rezhna Taha Najim, Alexandra Topa, Ylva Jugård, Beatrice Casslén, Marie Odersjö

Acta Ophthalmol· December 2020

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Investment case for two-year post university speciality training in family medicine in Tajikistan: how much is needed for continuing and scaling up the improved education of family doctors?
Jari Kempers, Leah F Bohle, Alexandra Topa, Greta Ross, Zukhra Kasymova

BMC Health Serv Res· December 2020

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Visual function and quality of life in children and adolescents with anophthalmia and microphthalmia treated with ocular prosthesis.
Beatrice Casslén, Ylva Jugård, Rezhna Taha Najim, Marie Odersjö, Alexandra Topa

Acta Ophthalmol· November 2020

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NGS targeted screening of 100 Scandinavian patients with coronal synostosis.
Alexandra Topa, Anna Rohlin, Mattias K Andersson, André Fehr, Lovisa Lovmar

Am J Med Genet A· February 2020

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Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic male.
Carola Hedberg-Oldfors, Kittichate Visuttijai, Alexandra Topa, Mar Tulinius, Anders Oldfors

Neuromuscul Disord· September 2017

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On the significance of craniosynostosis in a case of Kabuki syndrome with a concomitant KMT2D mutation and 3.2 Mbp de novo 10q22.3q23.1 deletion.
Alexandra Topa, Lena Samuelsson, Lovisa Lovmar, Göran Stenman, Lars Kölby

Am J Med Genet A· August 2017

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Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.
Claudio Reggiani, Sandra Coppens, Tayeb Sekhara, Ivan Dimov, Bruno Pichon, Alexandra Topa

Genome Med· July 2017

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Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation.
Alexandra Topa, Mar Tulinius, Anders Oldfors, Carola Hedberg-Oldfors

Am J Med Genet A· May 2016

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[Anophthalmia and microphthalmia requires multidisciplinary care. Many of the children also have other medical problems].
Ylva Jugård, Marie Odersjö, Alexandra Topa, Gun Lindgren, Marita Andersson Grönlund

Lakartidningen· July 2015

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CTNND2-a candidate gene for reading problems and mild intellectual disability.
Wolfgang Hofmeister, Daniel Nilsson, Alexandra Topa, Britt-Marie Anderlid, Fahimeh Darki

J Med Genet· February 2015

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Improving mutation screening in familial hematuric nephropathies through next generation sequencing.
Vincent Morinière, Karin Dahan, Pascale Hilbert, Marieline Lison, Said Lebbah, Alexandra Topa

J Am Soc Nephrol· December 2014

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Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.
Anna Lindstrand, Giedre Grigelioniene, Daniel Nilsson, Maria Pettersson, Wolfgang Hofmeister, Alexandra Topa

J Med Genet· January 2014

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