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Correction to: Anthropometric characteristics of 65 Polish Smith-Lemli-Opitz patients.

Journal of applied genetics

Różdżyńska-Świątkowska A, Ciara E, Halat-Wolska P, Krajewska-Walasek M, Jezela-Stanek A.
PMID: 34043176
J Appl Genet. 2021 Sep;62(3):525. doi: 10.1007/s13353-021-00639-y.

No abstract available.

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Różdżyńska-Świątkowska A, Ciara E, Halat-Wolska P, et al. Correction to: Anthropometric characteristics of 65 Polish Smith-Lemli-Opitz patients. J Appl Genet. 2021;62(3):525doi: 10.1007/s13353-021-00639-y.
Różdżyńska-Świątkowska, A., Ciara, E., Halat-Wolska, P., Krajewska-Walasek, M., & Jezela-Stanek, A. (2021). Correction to: Anthropometric characteristics of 65 Polish Smith-Lemli-Opitz patients. Journal of applied genetics, 62(3), 525. https://doi.org/10.1007/s13353-021-00639-y
Różdżyńska-Świątkowska, A, et al. "Correction to: Anthropometric characteristics of 65 Polish Smith-Lemli-Opitz patients." Journal of applied genetics vol. 62,3 (2021): 525. doi: https://doi.org/10.1007/s13353-021-00639-y
Różdżyńska-Świątkowska A, Ciara E, Halat-Wolska P, Krajewska-Walasek M, Jezela-Stanek A. Correction to: Anthropometric characteristics of 65 Polish Smith-Lemli-Opitz patients. J Appl Genet. 2021 Sep;62(3):525. doi: 10.1007/s13353-021-00639-y. PMID: 34043176.
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Possible effect of the HLA-DQ2/DQ8 polymorphism on autoimmune parameters and lymphocyte subpopulation in recurrent pregnancy losses.

Journal of reproductive immunology

Królik M, Wrześniak M, Jezela-Stanek A.
PMID: 34952371
J Reprod Immunol. 2021 Dec 17;149:103467. doi: 10.1016/j.jri.2021.103467. Epub 2021 Dec 17.

Recurrent pregnancy loss (RPL) affects 1-2 % of women. Allo- and autoimmune disorders are a recognized factor for RPL and poor pregnancy outcomes. There is a link between antiphospholipid syndrome (APS), Hashimoto's thyroiditis or coeliac disease, and pregnancy losses....

Cite
Królik M, Wrześniak M, Jezela-Stanek A. Possible effect of the HLA-DQ2/DQ8 polymorphism on autoimmune parameters and lymphocyte subpopulation in recurrent pregnancy losses. J Reprod Immunol. 2021;149:103467doi: 10.1016/j.jri.2021.103467.
Królik, M., Wrześniak, M., & Jezela-Stanek, A. (2021). Possible effect of the HLA-DQ2/DQ8 polymorphism on autoimmune parameters and lymphocyte subpopulation in recurrent pregnancy losses. Journal of reproductive immunology, 149103467. https://doi.org/10.1016/j.jri.2021.103467
Królik, Małgorzata, et al. "Possible effect of the HLA-DQ2/DQ8 polymorphism on autoimmune parameters and lymphocyte subpopulation in recurrent pregnancy losses." Journal of reproductive immunology vol. 149 (2021): 103467. doi: https://doi.org/10.1016/j.jri.2021.103467
Królik M, Wrześniak M, Jezela-Stanek A. Possible effect of the HLA-DQ2/DQ8 polymorphism on autoimmune parameters and lymphocyte subpopulation in recurrent pregnancy losses. J Reprod Immunol. 2021 Dec 17;149:103467. doi: 10.1016/j.jri.2021.103467. Epub 2021 Dec 17. PMID: 34952371.
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Dear Readers and Authors.

Journal of mother and child

Jezela-Stanek A.
PMID: 34265887
J Mother Child. 2021 Jul 16;24(4):1. doi: 10.34763/jmotherandchild.20202404.edit.04_2020.

No abstract available.

Cite
Jezela-Stanek A. Dear Readers and Authors. J Mother Child. 2021;24(4):1doi: 10.34763/jmotherandchild.20202404.edit.04_2020.
Jezela-Stanek, A. (2021). Dear Readers and Authors. Journal of mother and child, 24(4), 1. https://doi.org/10.34763/jmotherandchild.20202404.edit.04_2020
Jezela-Stanek, Aleksandra. "Dear Readers and Authors." Journal of mother and child vol. 24,4 (2021): 1. doi: https://doi.org/10.34763/jmotherandchild.20202404.edit.04_2020
Jezela-Stanek A. Dear Readers and Authors. J Mother Child. 2021 Jul 16;24(4):1. doi: 10.34763/jmotherandchild.20202404.edit.04_2020. PMID: 34265887; PMCID: PMC8330359.
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Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the .

Diagnostics (Basel, Switzerland)

Jezela-Stanek A, Blaz W, Gora A, Bochenska M, Kusmierska K, Sykut-Cegielska J.
PMID: 33066491
Diagnostics (Basel). 2020 Oct 14;10(10). doi: 10.3390/diagnostics10100821.

(1) Background: Molybdenum cofactor deficiency type B (MOCODB, #252160) is a rare autosomal recessive metabolic disorder characterized by intractable seizures of neonatal-onset, muscular spasticity, accompanying with hypouricemia, elevated urinary sulfite levels and craniofacial dysmorphism. Thirty-five patients were reported to...

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Jezela-Stanek A, Blaz W, Gora A, et al. Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the . Diagnostics (Basel). 2020;10(10)doi: 10.3390/diagnostics10100821.
Jezela-Stanek, A., Blaz, W., Gora, A., Bochenska, M., Kusmierska, K., & Sykut-Cegielska, J. (2020). Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the . Diagnostics (Basel, Switzerland), 10(10), . https://doi.org/10.3390/diagnostics10100821
Jezela-Stanek, Aleksandra, et al. "Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the ." Diagnostics (Basel, Switzerland) vol. 10,10 (2020). doi: https://doi.org/10.3390/diagnostics10100821
Jezela-Stanek A, Blaz W, Gora A, Bochenska M, Kusmierska K, Sykut-Cegielska J. Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the . Diagnostics (Basel). 2020 Oct 14;10(10). doi: 10.3390/diagnostics10100821. PMID: 33066491; PMCID: PMC7602273.
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Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?.

Clinical dysmorphology

Jezela-Stanek A, Pokora P, Młynek M, Smyk M, Ziemkiewicz K, Różdżyńska-Świątkowska A, Tylki-Szymańska A.
PMID: 33290290
Clin Dysmorphol. 2021 Apr 01;30(2):76-82. doi: 10.1097/MCD.0000000000000344.

Our study aims to delineate the syndromology of Hunter syndrome (MPSII), by presenting three patients with different clinical courses, caused by different genetic mechanisms. Single-nucleotide variants (SNV) or small deletions encompassing the iduronate-2-sulfatase (IDS) gene are identified in the...

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Jezela-Stanek A, Pokora P, Młynek M, et al. Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?. Clin Dysmorphol. 2021;30(2):76-82doi: 10.1097/MCD.0000000000000344.
Jezela-Stanek, A., Pokora, P., Młynek, M., Smyk, M., Ziemkiewicz, K., Różdżyńska-Świątkowska, A., & Tylki-Szymańska, A. (2021). Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?. Clinical dysmorphology, 30(2), 76-82. https://doi.org/10.1097/MCD.0000000000000344
Jezela-Stanek, Aleksandra, et al. "Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?." Clinical dysmorphology vol. 30,2 (2021): 76-82. doi: https://doi.org/10.1097/MCD.0000000000000344
Jezela-Stanek A, Pokora P, Młynek M, Smyk M, Ziemkiewicz K, Różdżyńska-Świątkowska A, Tylki-Szymańska A. Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?. Clin Dysmorphol. 2021 Apr 01;30(2):76-82. doi: 10.1097/MCD.0000000000000344. PMID: 33290290.
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Possible effect of the HLA-DQ2/DQ8 polymorphism on autoimmune parameters and lymphocyte subpopulation in recurrent pregnancy losses.

Journal of reproductive immunology

Królik M, Wrześniak M, Jezela-Stanek A.
PMID: 34952371
J Reprod Immunol. 2021 Dec 17;149:103467. doi: 10.1016/j.jri.2021.103467. Epub 2021 Dec 17.

Recurrent pregnancy loss (RPL) affects 1-2 % of women. Allo- and autoimmune disorders are a recognized factor for RPL and poor pregnancy outcomes. There is a link between antiphospholipid syndrome (APS), Hashimoto's thyroiditis or coeliac disease, and pregnancy losses....

Cite
Królik M, Wrześniak M, Jezela-Stanek A. Possible effect of the HLA-DQ2/DQ8 polymorphism on autoimmune parameters and lymphocyte subpopulation in recurrent pregnancy losses. J Reprod Immunol. 2021;149:103467doi: 10.1016/j.jri.2021.103467.
Królik, M., Wrześniak, M., & Jezela-Stanek, A. (2021). Possible effect of the HLA-DQ2/DQ8 polymorphism on autoimmune parameters and lymphocyte subpopulation in recurrent pregnancy losses. Journal of reproductive immunology, 149103467. https://doi.org/10.1016/j.jri.2021.103467
Królik, Małgorzata, et al. "Possible effect of the HLA-DQ2/DQ8 polymorphism on autoimmune parameters and lymphocyte subpopulation in recurrent pregnancy losses." Journal of reproductive immunology vol. 149 (2021): 103467. doi: https://doi.org/10.1016/j.jri.2021.103467
Królik M, Wrześniak M, Jezela-Stanek A. Possible effect of the HLA-DQ2/DQ8 polymorphism on autoimmune parameters and lymphocyte subpopulation in recurrent pregnancy losses. J Reprod Immunol. 2021 Dec 17;149:103467. doi: 10.1016/j.jri.2021.103467. Epub 2021 Dec 17. PMID: 34952371.
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Congenital Disorders of Glycosylation from a Neurological Perspective.

Brain sciences

Paprocka J, Jezela-Stanek A, Tylki-Szymańska A, Grunewald S.
PMID: 33440761
Brain Sci. 2021 Jan 11;11(1). doi: 10.3390/brainsci11010088.

Most plasma proteins, cell membrane proteins and other proteins are glycoproteins with sugar chains attached to the polypeptide-glycans. Glycosylation is the main element of the post-translational transformation of most human proteins. Since glycosylation processes are necessary for many different...

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Paprocka J, Jezela-Stanek A, Tylki-Szymańska A, et al. Congenital Disorders of Glycosylation from a Neurological Perspective. Brain Sci. 2021;11(1)doi: 10.3390/brainsci11010088.
Paprocka, J., Jezela-Stanek, A., Tylki-Szymańska, A., & Grunewald, S. (2021). Congenital Disorders of Glycosylation from a Neurological Perspective. Brain sciences, 11(1), . https://doi.org/10.3390/brainsci11010088
Paprocka, Justyna, et al. "Congenital Disorders of Glycosylation from a Neurological Perspective." Brain sciences vol. 11,1 (2021). doi: https://doi.org/10.3390/brainsci11010088
Paprocka J, Jezela-Stanek A, Tylki-Szymańska A, Grunewald S. Congenital Disorders of Glycosylation from a Neurological Perspective. Brain Sci. 2021 Jan 11;11(1). doi: 10.3390/brainsci11010088. PMID: 33440761; PMCID: PMC7827962.
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Possible effect of the HLA-DQ2/DQ8 polymorphism on autoimmune parameters and lymphocyte subpopulation in recurrent pregnancy losses.

Journal of reproductive immunology

Królik M, Wrześniak M, Jezela-Stanek A.
PMID: 34952371
J Reprod Immunol. 2021 Dec 17;149:103467. doi: 10.1016/j.jri.2021.103467. Epub 2021 Dec 17.

Recurrent pregnancy loss (RPL) affects 1-2 % of women. Allo- and autoimmune disorders are a recognized factor for RPL and poor pregnancy outcomes. There is a link between antiphospholipid syndrome (APS), Hashimoto's thyroiditis or coeliac disease, and pregnancy losses....

Cite
Królik M, Wrześniak M, Jezela-Stanek A. Possible effect of the HLA-DQ2/DQ8 polymorphism on autoimmune parameters and lymphocyte subpopulation in recurrent pregnancy losses. J Reprod Immunol. 2021;149:103467doi: 10.1016/j.jri.2021.103467.
Królik, M., Wrześniak, M., & Jezela-Stanek, A. (2021). Possible effect of the HLA-DQ2/DQ8 polymorphism on autoimmune parameters and lymphocyte subpopulation in recurrent pregnancy losses. Journal of reproductive immunology, 149103467. https://doi.org/10.1016/j.jri.2021.103467
Królik, Małgorzata, et al. "Possible effect of the HLA-DQ2/DQ8 polymorphism on autoimmune parameters and lymphocyte subpopulation in recurrent pregnancy losses." Journal of reproductive immunology vol. 149 (2021): 103467. doi: https://doi.org/10.1016/j.jri.2021.103467
Królik M, Wrześniak M, Jezela-Stanek A. Possible effect of the HLA-DQ2/DQ8 polymorphism on autoimmune parameters and lymphocyte subpopulation in recurrent pregnancy losses. J Reprod Immunol. 2021 Dec 17;149:103467. doi: 10.1016/j.jri.2021.103467. Epub 2021 Dec 17. PMID: 34952371.
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Do Not Miss the (Genetic) Diagnosis of Gaucher Syndrome: A Narrative Review on Diagnostic Clues and Management in Severe Prenatal and Perinatal-Lethal Sporadic Cases.

Journal of clinical medicine

Jezela-Stanek A, Kleinotiene G, Chwialkowska K, Tylki-Szymańska A.
PMID: 34768410
J Clin Med. 2021 Oct 23;10(21). doi: 10.3390/jcm10214890.

With a growing number of proved therapies and clinical trials for many lysosomal storage disorders (LSDs), a lot of hope for many patients and families exists. However, there are sometimes cases with poor prognosis, fatal outcomes when our efforts...

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Jezela-Stanek A, Kleinotiene G, Chwialkowska K, et al. Do Not Miss the (Genetic) Diagnosis of Gaucher Syndrome: A Narrative Review on Diagnostic Clues and Management in Severe Prenatal and Perinatal-Lethal Sporadic Cases. J Clin Med. 2021;10(21)doi: 10.3390/jcm10214890.
Jezela-Stanek, A., Kleinotiene, G., Chwialkowska, K., & Tylki-Szymańska, A. (2021). Do Not Miss the (Genetic) Diagnosis of Gaucher Syndrome: A Narrative Review on Diagnostic Clues and Management in Severe Prenatal and Perinatal-Lethal Sporadic Cases. Journal of clinical medicine, 10(21), . https://doi.org/10.3390/jcm10214890
Jezela-Stanek, Aleksandra, et al. "Do Not Miss the (Genetic) Diagnosis of Gaucher Syndrome: A Narrative Review on Diagnostic Clues and Management in Severe Prenatal and Perinatal-Lethal Sporadic Cases." Journal of clinical medicine vol. 10,21 (2021). doi: https://doi.org/10.3390/jcm10214890
Jezela-Stanek A, Kleinotiene G, Chwialkowska K, Tylki-Szymańska A. Do Not Miss the (Genetic) Diagnosis of Gaucher Syndrome: A Narrative Review on Diagnostic Clues and Management in Severe Prenatal and Perinatal-Lethal Sporadic Cases. J Clin Med. 2021 Oct 23;10(21). doi: 10.3390/jcm10214890. PMID: 34768410; PMCID: PMC8585001.
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How does terminal 21q22 deletion really manifest? Delineation based on prenatal diagnosis and literature review.

Taiwanese journal of obstetrics & gynecology

Wielgos M, Kosinski P, Jedrzejak P, Krajewska-Walasek M, Bartnik-Glaska M, Nowakowska B, Jezela-Stanek A.
PMID: 34794750
Taiwan J Obstet Gynecol. 2021 Nov;60(6):1121-1125. doi: 10.1016/j.tjog.2021.09.029.

OBJECTIVE: Most genetic disorders, especially rare and manifested with an unspecific constellation of developmental anomalies, are challenging to diagnose before birth. The paper aims to present a rare case of terminal 21q22 deletion to extend the knowledge on this...

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Wielgos M, Kosinski P, Jedrzejak P, et al. How does terminal 21q22 deletion really manifest? Delineation based on prenatal diagnosis and literature review. Taiwan J Obstet Gynecol. 2021;60(6):1121-1125doi: 10.1016/j.tjog.2021.09.029.
Wielgos, M., Kosinski, P., Jedrzejak, P., Krajewska-Walasek, M., Bartnik-Glaska, M., Nowakowska, B., & Jezela-Stanek, A. (2021). How does terminal 21q22 deletion really manifest? Delineation based on prenatal diagnosis and literature review. Taiwanese journal of obstetrics & gynecology, 60(6), 1121-1125. https://doi.org/10.1016/j.tjog.2021.09.029
Wielgos, Miroslaw, et al. "How does terminal 21q22 deletion really manifest? Delineation based on prenatal diagnosis and literature review." Taiwanese journal of obstetrics & gynecology vol. 60,6 (2021): 1121-1125. doi: https://doi.org/10.1016/j.tjog.2021.09.029
Wielgos M, Kosinski P, Jedrzejak P, Krajewska-Walasek M, Bartnik-Glaska M, Nowakowska B, Jezela-Stanek A. How does terminal 21q22 deletion really manifest? Delineation based on prenatal diagnosis and literature review. Taiwan J Obstet Gynecol. 2021 Nov;60(6):1121-1125. doi: 10.1016/j.tjog.2021.09.029. PMID: 34794750.
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Dear Readers and Authors.

Journal of mother and child

Jezela-Stanek A.
PMID: 34265887
J Mother Child. 2021 Jul 16;24(4):1. doi: 10.34763/jmotherandchild.20202404.edit.04_2020.

No abstract available.

Cite
Jezela-Stanek A. Dear Readers and Authors. J Mother Child. 2021;24(4):1doi: 10.34763/jmotherandchild.20202404.edit.04_2020.
Jezela-Stanek, A. (2021). Dear Readers and Authors. Journal of mother and child, 24(4), 1. https://doi.org/10.34763/jmotherandchild.20202404.edit.04_2020
Jezela-Stanek, Aleksandra. "Dear Readers and Authors." Journal of mother and child vol. 24,4 (2021): 1. doi: https://doi.org/10.34763/jmotherandchild.20202404.edit.04_2020
Jezela-Stanek A. Dear Readers and Authors. J Mother Child. 2021 Jul 16;24(4):1. doi: 10.34763/jmotherandchild.20202404.edit.04_2020. PMID: 34265887; PMCID: PMC8330359.
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Epilepsy in Mitochondrial Diseases-Current State of Knowledge on Aetiology and Treatment.

Children (Basel, Switzerland)

Wesół-Kucharska D, Rokicki D, Jezela-Stanek A.
PMID: 34206602
Children (Basel). 2021 Jun 22;8(7). doi: 10.3390/children8070532.

Mitochondrial diseases are a heterogeneous group of diseases resulting from energy deficit and reduced adenosine triphosphate (ATP) production due to impaired oxidative phosphorylation. The manifestation of mitochondrial disease is usually multi-organ. Epilepsy is one of the most common manifestations...

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Wesół-Kucharska D, Rokicki D, Jezela-Stanek A. Epilepsy in Mitochondrial Diseases-Current State of Knowledge on Aetiology and Treatment. Children (Basel). 2021;8(7)doi: 10.3390/children8070532.
Wesół-Kucharska, D., Rokicki, D., & Jezela-Stanek, A. (2021). Epilepsy in Mitochondrial Diseases-Current State of Knowledge on Aetiology and Treatment. Children (Basel, Switzerland), 8(7), . https://doi.org/10.3390/children8070532
Wesół-Kucharska, Dorota, et al. "Epilepsy in Mitochondrial Diseases-Current State of Knowledge on Aetiology and Treatment." Children (Basel, Switzerland) vol. 8,7 (2021). doi: https://doi.org/10.3390/children8070532
Wesół-Kucharska D, Rokicki D, Jezela-Stanek A. Epilepsy in Mitochondrial Diseases-Current State of Knowledge on Aetiology and Treatment. Children (Basel). 2021 Jun 22;8(7). doi: 10.3390/children8070532. PMID: 34206602; PMCID: PMC8303198.
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Showing 1 to 12 of 26 entries