Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Hengameh Abdollahpour"'
Autor:
Mohammad Gharagozlou, Hengameh Abdollahpour, Zahra Moinfar, Mohammad Hassan Bemanian, Mojtaba Sedaghat
Publikováno v:
Iranian Journal of Allergy, Asthma and Immunology, Vol 7, Iss 2 (2008)
Asthma is one of the most common acute and chronic conditions in children, and the pediatricians are expected to provide an important role for asthma care in this age group, however there is no published information describing the different aspects o
Externí odkaz:
https://doaj.org/article/51d20416597c4678861d33514e6352e5
Autor:
Fanny Kortüm, Georg Christoph Korenke, Kerstin Kutsche, Hengameh Abdollahpour, Eva Seemanova, Sigrid Tinschert, Georg Rosenberger, Malik Alawi, Martin Zenker
Publikováno v:
Medizinische Genetik. 26:246-254
Zusammenfassung Hintergrund Die Exomanalyse ist als Methode zur Identifizierung von pathogenen Sequenzvarianten bei Patienten mit einem nach den mendelschen Regeln vererbten Krankheitsbild nicht mehr wegzudenken. Sie bildet umfassend die codierenden
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c02ead62e599938c623f22dc17347100
https://doi.org/10.1007/s11825-014-0446-8
https://doi.org/10.1007/s11825-014-0446-8
Autor:
Kerstin Kutsche, Vijay Raju Boggula, Gandham SriLakshmi Bhavani, Hengameh Abdollahpour, Hitesh Shah, Katta M. Girisha, John M. Graham, Shubha R. Phadke
Publikováno v:
American Journal of Medical Genetics Part A. 164:1035-1040
We report on an adolescent girl with sparse scalp hair, wide columella extending below alae nasi, webbing at elbows, broad finger tips, short distal phalanx of fingers, swan neck deformity of fingers, scoliosis, tall vertebrae, short fibulae, short f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01ee1c979689ff71ef9d86c8910236df
https://doi.org/10.1002/ajmg.a.36381
https://doi.org/10.1002/ajmg.a.36381
Autor:
György Fekete, I Haltrich, Inga Nagel, Georg Rosenberger, Tatjana Bierhals, Hengameh Abdollahpour, Kerstin Kutsche, B Chilian
Publikováno v:
Clinical Genetics. 84:560-565
Synaptopathies constitute a group of neurological diseases including autism spectrum disorders (ASD) and intellectual disability (ID). They have been associated with mutations in genes encoding proteins important for the formation and stabilization o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::580961dc3b2f504b055ff69b81d73e1a
https://doi.org/10.1111/cge.12105
https://doi.org/10.1111/cge.12105
Autor:
Axel Schambach, Jana Diestelhorst, Hans Kreipe, Christoph Klein, Karin R. Engelhardt, Daniel Kotlarz, Giridharan Appaswamy, Dietmar Pfeifer, Roya Sherkat, Rita Beier, E. Michael Gertz, Alejandro A. Schäffer, Sabine Lohrmann, Nima Rezaei, Bodo Grimbacher, Hengameh Abdollahpour
Publikováno v:
Blood; Vol 119
We describe a novel clinical phenotype associating T- and B-cell lymphopenia, intermittent neutropenia, and atrial septal defects in 3 members of a consanguineous kindred. Their clinical histories included recurrent bacterial infections, viral infect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0587da5d801fa17ba72fe69fe3b53101
Autor:
Kerstin Kutsche, Vladimir Komarek, Michael Beckstette, Fanny Kortüm, Hengameh Abdollahpour, Eva Seemanova, Malik Alawi, Georg Rosenberger
Publikováno v:
European journal of human genetics : EJHG. 23(2)
The recently proposed adaptor protein 4 (AP-4) deficiency syndrome comprises a group of congenital neurological disorders characterized by severe intellectual disability (ID), delayed or absent speech, hereditary spastic paraplegia, and growth retard
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69f98e27e4ef6aa42ee2da48bc86f6d4
https://pubmed.ncbi.nlm.nih.gov/24781758
https://pubmed.ncbi.nlm.nih.gov/24781758
Publikováno v:
The Turkish journal of pediatrics. 52(1)
Severe congenital neutropenia (SCN) is a rare primary myelopoiesis disorder, characterized by persistent severe neutropenia and early-onset bacterial infections. Herein, we describe an 11-month-old male who was referred with recurrent cutaneous infec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9ef6c61ddaf59ed628c5b924bdc384d0
https://pubmed.ncbi.nlm.nih.gov/20402072
https://pubmed.ncbi.nlm.nih.gov/20402072
Autor:
Sevgi Yetgin, Bodo Grimbacher, Hengameh Abdollahpour, Nima Rezaei, Magda Grudzien, Matthias Ballmaier, Karl Welte, Cornelia Zeidler, Christoph Klein, Manuela Germeshausen
Homozygous mutations in HAX1 cause an autosomal recessive form of severe congenital neutropenia (CN). By screening 88 patients with CN, we identified 6 additional patients with HAX1 mutations carrying 4 novel mutations. Of these, 2 affect both publis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e85c32697a500c9b71f1ef067253595b
http://hdl.handle.net/11655/14278
http://hdl.handle.net/11655/14278
Autor:
Hengameh Abdollahpour, Giridharan Appaswamy, Rita Beier, Alejandro A. Schäffer, E. Michael Gertz, Hans H. Kreipe, Dietmar Pfeifer, Bodo Grimbacher, Sabine Lohrmann, Roya Sherkat, Christoph Klein
Publikováno v:
Blood. 118:692-692
Abstract 692 Congenital neutropenia syndromes comprise a heterogeneous group of disorders, whose genetic etiology remains often unknown. We describe a consanguineous pedigree with several affected individuals characterized by predisposition to recurr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d56fc3acaf1a191c61dc60379cb4b5b6
https://doi.org/10.1182/blood.v118.21.692.692
https://doi.org/10.1182/blood.v118.21.692.692