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Terminal Complement Pathway Deficiency in an Adult Patient with Meningococcal Sepsis
Terminal Complement Pathway Deficiency in an Adult Patient with Meningococcal Sepsis
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Terminal Complement Pathway Deficiency in an Adult Patient with Meningococcal Sepsis

Staels, F. ; Meersseman, W. ; Stordeur, P. ; Willekens, K. ; Van Loo, S. ; Corveleyn, A. ; Meyts, I. ; Meyfroidt, G. ; Schrijvers, R. Mansour, Ahmad ; Ahmad Mansour

Case reports in immunology, 2022, Vol.2022, p.9057000-6 [Periódico revisado por pares]

Egypt: Hindawi

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2
Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults
Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults
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Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults

Lambotte, Olivier ; Neven, Bénédicte ; Galicier, Lionel ; Magerus-Chatinet, Aude ; Schleinitz, Nicolas ; Hermine, Olivier ; Meyts, Isabelle ; Picard, Capucine ; Godeau, Bertrand ; Fischer, Alain ; Rieux-Laucat, Frédéric

Haematologica (Roma), 2013-03, Vol.98 (3), p.389-392 [Periódico revisado por pares]

Italy: Ferrata Storti Foundation

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3
Ataxia–telangiectasia patients presenting with hyper-IgM syndrome
Ataxia–telangiectasia patients presenting with hyper-IgM syndrome
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Ataxia–telangiectasia patients presenting with hyper-IgM syndrome

Noordzij, J G ; Wulffraat, N M ; Haraldsson, Á ; Meyts, I ; Veer, L J van’t ; Hogervorst, F B L ; Warris, A ; Weemaes, C M R

Archives of disease in childhood, 2009-06, Vol.94 (6), p.448-449 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health

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4
Treatment of severe forms of LPS-responsive beige-like anchor protein deficiency with allogeneic hematopoietic stem cell transplantation
Treatment of severe forms of LPS-responsive beige-like anchor protein deficiency with allogeneic hematopoietic stem cell transplantation
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Treatment of severe forms of LPS-responsive beige-like anchor protein deficiency with allogeneic hematopoietic stem cell transplantation

Seidel, Markus G., MD ; Böhm, Katrin, Cm ; Dogu, Figen, MD ; Worth, Austen, MD ; Thrasher, Adrian, MD ; Florkin, Benoit, MD ; İkincioğulları, Aydan, MD ; Peters, Anke, MD ; Bakhtiar, Shahrzad, MD ; Meeths, Marie, MD ; Stepensky, Polina, MD ; Meyts, Isabelle, MD ; Sharapova, Svetlana O., MD ; Gámez-Díaz, Laura, PhD ; Hammarström, Lennart, MD ; Ehl, Stephan, MD ; Grimbacher, Bodo, MD ; Gennery, Andrew R., MD

Journal of allergy and clinical immunology, 2018-02, Vol.141 (2), p.770-775.e1 [Periódico revisado por pares]

United States: Elsevier Inc

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5
Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure
Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure
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Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure

Hardy, Jimmaline J. ; Wyrwoll, Margot J. ; Mcfadden, William ; Malcher, Agnieszka ; Rotte, Nadja ; Pollock, Nijole C. ; Munyoki, Sarah ; Veroli, Maria V. ; Houston, Brendan J. ; Xavier, Miguel J. ; Kasak, Laura ; Punab, Margus ; Laan, Maris ; Kliesch, Sabine ; Schlegel, Peter ; Jaffe, Thomas ; Hwang, Kathleen ; Vukina, Josip ; Brieño-Enríquez, Miguel A. ; Orwig, Kyle ; Yanowitz, Judith ; Buszczak, Michael ; Veltman, Joris A. ; Oud, Manon ; Nagirnaja, Liina ; Olszewska, Marta ; O’Bryan, Moira K. ; Conrad, Donald F. ; Kurpisz, Maciej ; Tüttelmann, Frank ; Yatsenko, Alexander N.

Human genetics, 2021-08, Vol.140 (8), p.1169-1182 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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6
Shwachman-Diamond Syndrome: frequent misdiagnosis as Jeune Syndrome and other peculiarities
Shwachman-Diamond Syndrome: frequent misdiagnosis as Jeune Syndrome and other peculiarities
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Shwachman-Diamond Syndrome: frequent misdiagnosis as Jeune Syndrome and other peculiarities

Meyts, I ; Schaballie, H ; Haerynck, F ; Sevenants, L ; Vermylen, C ; Bordon, V ; Bossuyt, X ; Corveleyn, A ; Uyttebroeck, A ; Renard, M

Pediatric rheumatology online journal, 2011-09, Vol.9 (S1), p.P313-P313, Article P313 [Periódico revisado por pares]

BioMed Central Ltd

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7
A de novo paradigm for male infertility
A de novo paradigm for male infertility
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A de novo paradigm for male infertility

Oud, M S ; Smits, R M ; Smith, H E ; Mastrorosa, F K ; Holt, G S ; Houston, B J ; de Vries, P F ; Alobaidi, B K S ; Batty, L E ; Ismail, H ; Greenwood, J ; Sheth, H ; Mikulasova, A ; Astuti, G D N ; Gilissen, C ; McEleny, K ; Turner, H ; Coxhead, J ; Cockell, S ; Braat, D D M ; Fleischer, K ; D'Hauwers, K W M ; Schaafsma, E ; Nagirnaja, L ; Conrad, D F ; Friedrich, C ; Kliesch, S ; Aston, K I ; Riera-Escamilla, A ; Krausz, C ; Gonzaga-Jauregui, C ; Santibanez-Koref, M ; Elliott, D J ; Vissers, L E L M ; Tüttelmann, F ; O'Bryan, M K ; Ramos, L ; Xavier, M J ; van der Heijden, G W ; Veltman, J A

Nature communications, 2022-01, Vol.13 (1), p.154-154, Article 154 [Periódico revisado por pares]

England: Nature Publishing Group

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8
Cystic fibrosis carriership and tuberculosis: hints toward an evolutionary selective advantage based on data from the Brazilian territory
Cystic fibrosis carriership and tuberculosis: hints toward an evolutionary selective advantage based on data from the Brazilian territory
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Cystic fibrosis carriership and tuberculosis: hints toward an evolutionary selective advantage based on data from the Brazilian territory

Bosch, Lander ; Bosch, Barbara ; De Boeck, Kris ; Nawrot, Tim ; Meyts, Isabelle ; Vanneste, Dominique ; Le Bourlegat, Cleonice Alexandre ; Croda, Julio ; da Silva Filho, Luiz Vicente Ribeiro Ferreira

BMC infectious diseases, 2017-05, Vol.17 (1), p.340-340, Article 340 [Periódico revisado por pares]

England: BioMed Central

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9
PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants
PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants
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PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants

Baysac, Kathleen ; Sun, Guangping ; Nakano, Hiroto ; Schmitz, Elizabeth G ; Cruz, Anthony C ; Fisher, Charles ; Bailey, Alexis C ; Mace, Emily ; Milner, Joshua D ; Ombrello, Michael J

Journal of allergy and clinical immunology, 2024-01, Vol.153 (1), p.230-242 [Periódico revisado por pares]

United States

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10
Variant PNLDC1, Defective piRNA Processing, and Azoospermia
Variant PNLDC1, Defective piRNA Processing, and Azoospermia
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Variant PNLDC1, Defective piRNA Processing, and Azoospermia

Nagirnaja, Liina ; Mørup, Nina ; Nielsen, John E ; Stakaitis, Rytis ; Golubickaite, Ieva ; Oud, Manon S ; Winge, Sofia B ; Carvalho, Filipa ; Aston, Kenneth I ; Khani, Francesca ; van der Heijden, Godfried W ; Marques, C. Joana ; Skakkebaek, Niels E ; Rajpert–De Meyts, Ewa ; Schlegel, Peter N ; Jørgensen, Niels ; Veltman, Joris A ; Lopes, Alexandra M ; Conrad, Donald F ; Almstrup, Kristian

The New England journal of medicine, 2021-08, Vol.385 (8), p.707-719 [Periódico revisado por pares]

United States: Massachusetts Medical Society

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