نتائج البحث - "Hassib, Nehal"

1

Academic Journal

Correction to: Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene

المؤلفون: Elaraby, Nesma M., Ahmed, Hoda A., Ashaat, Neveen A., Tawfik, Sameh, Ahmed, Mahmoud K. H., Hassib, Nehal F., Ashaat, Engy A.

المصدر: Journal of Molecular Neuroscience ; volume 74, issue 2 ; ISSN 1559-1166

الاتاحة: https://doi.org/10.1007/s12031-024-02233-3
https://link.springer.com/content/pdf/10.1007/s12031-024-02233-3.pdf
https://link.springer.com/article/10.1007/s12031-024-02233-3/fulltext.html

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2

Academic Journal

Brachyolmia, dental anomalies and short stature (DASS):Phenotype and genotype analyses of Egyptian and Pakistani patients

المؤلفون: Nawaz, Hamed, Parveen, Asia, Khan, Sher Alam, Zalan, Abul Khair, Khan, Muhammad Adnan, Muhammad, Noor, Hassib, Nehal F., Mostafa, Mostafa I., Elhossini, Rasha M., Roshdy, Nehal Nabil, Ullah, Asmat, Arif, Amina, Khan, Saadullah, Ammerpohl, Ole, Wasif, Naveed

المصدر: Nawaz , H , Parveen , A , Khan , S A , Zalan , A K , Khan , M A , Muhammad , N , Hassib , N F , Mostafa , M I , Elhossini , R M , Roshdy , N N , Ullah , A , Arif , A , Khan , S , Ammerpohl , O & Wasif , N 2024 , ' Brachyolmia, dental anomalies and short stature (DASS) : Phenotype and genotype analyses of Egyptian and Pakistani patients ' , Heliyon , vol. 10 , no. 1 , e23688 . https://doi.org/10.1016/j.heliyon.2023.e23688

مصطلحات موضوعية: Amelogenesis imperfecta, Brachyolmia, Exome sequencing, Frameshift variants, Hearing impairment, Homozygous splice acceptor site, LTBP3

Relation: https://pure.au.dk/portal/en/publications/f4b2684e-d017-4f86-b55b-69ef17b224b7

الاتاحة: https://pure.au.dk/portal/en/publications/f4b2684e-d017-4f86-b55b-69ef17b224b7
https://doi.org/10.1016/j.heliyon.2023.e23688
http://www.scopus.com/inward/record.url?scp=85180281967&partnerID=8YFLogxK

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3

Academic Journal

Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene and Review of Literature

المؤلفون: Elaraby, Nesma M., Ahmed, Hoda A., Ashaat, Neveen A., Tawfik, Sameh, Ahmed, Mahmoud K. H., Hassib, Nehal F., Ashaat, Engy A.

المساهمون: National Research Centre Egypt

المصدر: Journal of Molecular Neuroscience ; volume 72, issue 11, page 2242-2251 ; ISSN 0895-8696 1559-1166

الاتاحة: http://dx.doi.org/10.1007/s12031-022-02074-y
https://link.springer.com/content/pdf/10.1007/s12031-022-02074-y.pdf
https://link.springer.com/article/10.1007/s12031-022-02074-y/fulltext.html

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4

Academic Journal

Isolated dentinogenesis imperfecta: Novel DSPP variants and insights on genetic counselling.

المؤلفون: Hassib, Nehal F.^1,2 (AUTHOR) nounih@hotmail.com, Mehrez, Mennat¹ (AUTHOR), Mostafa, Mostafa I.¹ (AUTHOR), Abdel-Hamid, Mohamed S.³ (AUTHOR)

المصدر: Clinical Oral Investigations. May2024, Vol. 28 Issue 5, p1-8. 8p.

5

Academic Journal

A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management.

المؤلفون: Elhossini, Rasha M., Sayed, Inas M., Hellal, Usama Saad, Mahmoud, Sarah A. M., Aglan, Mona S., Hassib, Nehal F., Abdel‐Hamid, Mohamed S.

المصدر: American Journal of Medical Genetics. Part A; Jan2024, Vol. 194 Issue 1, p39-45, 7p

6

Academic Journal

Deleterious variants in WNT10A, EDAR, and EDA causing isolated and syndromic tooth agenesis: a structural perspective from molecular dynamics simulations

مصطلحات موضوعية: Hypodontia/oligodontia, Hypohidrotic ectodermal dysplasia, WNT10A, EDAR, EDA, Exome sequencing, MD simulations, Ectodermal dysplasia, Genetics, Tooth abnormalities, Odontodysplasia, Ektodermaldysplasie, Oligodontie

وصف الملف: application/pdf

الاتاحة: https://doi.org/10.18725/OPARU-47807
http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-47883-7

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7

Academic Journal

A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management

المؤلفون: Elhossini, Rasha M., Sayed, Inas M., Hellal, Usama Saad, Mahmoud, Sarah A. M., Aglan, Mona S., Hassib, Nehal F., Abdel‐Hamid, Mohamed S.

المساهمون: Science and Technology Development Fund

المصدر: American Journal of Medical Genetics Part A ; volume 194, issue 1, page 39-45 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.63415
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63415

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8

Academic Journal

Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum

المؤلفون: Otaify, Ghada A., Abdel‐Hamid, Mohamed S., Hassib, Nehal F., Elhossini, Rasha M., Abdel‐Ghafar, Sherif F., Aglan, Mona S.

المساهمون: Science and Technology Development Fund

المصدر: American Journal of Medical Genetics Part A ; volume 188, issue 6, page 1815-1825 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.62718
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62718
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.a.62718

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9

Academic Journal

Expanding the phenotypic spectrum in ESRRB related sensorineural hearing loss: Evidence provided via detecting novel nonsense mutation in an Egyptian family

المؤلفون: Elbagoury, Nagham M., Ashaat, Engy A., Sharaf-Eldin, Wessam E., Hassib, Nehal, Ashaat, Neveen A., Youssef, Ragaey, El Ruby, Mona O., Esswai, Mona L.

المصدر: Human Gene ; volume 34, page 201105 ; ISSN 2773-0441

الاتاحة: http://dx.doi.org/10.1016/j.humgen.2022.201105
https://api.elsevier.com/content/article/PII:S2773044122000791?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2773044122000791?httpAccept=text/plain

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10

Academic Journal

Atypical Case of Amelogenesis Imperfecta and Generalized Impacted Dentitions: Dental Management and Follow Ups.

المؤلفون: Hassib, Nehal F.¹ nounih@hotmail.com, Hellal, Usama S.¹, Mostafa, Mostafa I.¹

المصدر: Middle East Journal of Medical Genetics. Jan2023, Vol. 12 Issue 1, p1-4. 4p.

11

Academic Journal

Oro‐dental features in Egyptian patients with familial mediterranean fever

المؤلفون: Abouzaid, Maha, Hassib, Nehal, Hamed, Khaled, Taher, Mohamed, Sokkar, Mona, Eltaweel, Noha, El‐Bassyouni, Hala

المصدر: Special Care in Dentistry ; volume 42, issue 4, page 376-382 ; ISSN 0275-1879 1754-4505

الاتاحة: http://dx.doi.org/10.1111/scd.12687
https://onlinelibrary.wiley.com/doi/pdf/10.1111/scd.12687
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/scd.12687

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12

Academic Journal

Gene mutations of the three ectodysplasin pathway key players (EDA, EDAR, and EDARADD) account for more than 60% of Egyptian ectodermal dysplasia: A report of seven novel mutations

المؤلفون: Ahmed, Hoda A., El-Kamah, Ghada Y., Rabie, Eman, Mostafa, Mostafa I., Abouzaid, Maha R., Hassib, Nehal F., Mehrez, Mennat I., Abdel-Kader, Mohamed A., Mohsen, Yasmine H., Zada, Suher K., Amr, Khalda S., Sayed, Inas S.M.

المصدر: Faculty Journal Articles

مصطلحات موضوعية: Ectodermal eysplasia, Ectodysplasin A, EDA, EDAR, EDARADD, Hypodontia, Hypohidrotic ectodermal eysplasia, Oligodontia, WNT10A

Relation: https://fount.aucegypt.edu/faculty_journal_articles/2418

الاتاحة: https://fount.aucegypt.edu/faculty_journal_articles/2418
https://doi.org/10.3390/genes12091389

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13

Academic Journal

Investigation of a dysmorphic facial phenotype in patients with Gaucher disease types 2 and 3

المؤلفون: Daykin, Emily, Fleischer, Nicole, Abdelwahab, Magy, Hassib, Nehal, Schiffmann, Raphael, Ryan, Emory, Sidransky, Ellen

المساهمون: National Institutes of Health, National Human Genome Research Institute

المصدر: Molecular Genetics and Metabolism ; volume 134, issue 3, page 274-280 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2021.09.008
https://api.elsevier.com/content/article/PII:S1096719221007848?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719221007848?httpAccept=text/plain

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14

Academic Journal

A novel missense variant in CAT gene causing acatalasemia with gangrenous periodontitis (Takahara's disease).

المؤلفون: Hassib, Nehal F.^1,2 (AUTHOR) nounih@hotmail.com, Mehrez, Mennat¹ (AUTHOR), Abouzaid, Maha R.¹ (AUTHOR), Mostafa, Mostafa I.¹ (AUTHOR), Elhossini, Rasha M.³ (AUTHOR), Abdel-Hamid, Mohamed S.^1,4 (AUTHOR) mohamadnrc@hotmail.com

المصدر: Archives of Oral Biology. Nov2024, Vol. 167, pN.PAG-N.PAG. 1p.

مصطلحات موضوعية: *GENETIC testing, *MISSENSE mutation, *MOUTH ulcers, *EHLERS-Danlos syndrome, *GENE families

15

Academic Journal

Oro-dental features in Egyptian patients with familial mediterranean fever.

المؤلفون: Abouzaid, Maha, Hassib, Nehal, Hamed, Khaled, Taher, Mohamed, Sokkar, Mona, Eltaweel, Noha, El‐Bassyouni, Hala, El-Bassyouni, Hala

المصدر: Special Care in Dentistry; Jul2022, Vol. 42 Issue 4, p376-382, 7p

16

Academic Journal

Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity.

المؤلفون: Rabie, Eman A., Sayed, Inas S. M., Amr, Khalda, Ahmed, Hoda A., Mostafa, Mostafa I., Hassib, Nehal F., El-Sayed, Heba, Zada, Suher K., El-Kamah, Ghada

المصدر: Genes; Jun2022, Vol. 13 Issue 6, p1056-1056, 24p

مصطلحات موضوعية: ECTODERMAL dysplasia, PHENOTYPES, SWEAT glands, ETHNICITY, HYPODONTIA, DYSPLASIA

مصطلحات جغرافية: NORTH Africa

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17

Academic Journal

Two new families with enamel renal syndrome: A novel FAM20A gene mutation and review of literature

المؤلفون: Hassib, Nehal F., Shoeib, Mona A., ElSadek, Hoda A., Wali, Mona E., Mostafa, Mostafa I., Abdel-Hamid, Mohamed S.

المساهمون: Science and Technology Development Fund, Academy of Science Research and Technology, Egypt

المصدر: European Journal of Medical Genetics ; volume 63, issue 11, page 104045 ; ISSN 1769-7212

الاتاحة: http://dx.doi.org/10.1016/j.ejmg.2020.104045
https://api.elsevier.com/content/article/PII:S1769721219305841?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1769721219305841?httpAccept=text/plain

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18

Academic Journal

Erratum: Clinical Variability of Pallister–Killian Syndrome in Two Egyptian Patients

المؤلفون: Eid, Maha M., Eid, Ola M., Abdel-Hadi, Sawsan, Hassib, Nehal, Madian, Abdelrahman, Afifi, Hanan H., Abdel-Salam, Ghada M.H.

المصدر: Journal of Pediatric Genetics ; volume 09, issue 03, page e1-e1 ; ISSN 2146-4596 2146-460X

الاتاحة: http://dx.doi.org/10.1055/s-0039-3401827
http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0039-3401827.pdf

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19

Academic Journal

Clinical Variability of Pallister–Killian Syndrome in Two Egyptian Patients

المؤلفون: Eid, Maha M., Eid, Ola M., Abdel-Hadi, Sawsan, Hassib, Nehal, Madian, Abdelrahman, Afifi, Hanan H., Abdel-Salam, Ghada M. H.

المصدر: Journal of Pediatric Genetics ; volume 09, issue 03, page 207-210 ; ISSN 2146-4596 2146-460X

الاتاحة: http://dx.doi.org/10.1055/s-0039-3400489
http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0039-3400489.pdf

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20

Academic Journal

Characterization of epilepsy in a large Egyptian Gaucher disease type 3 (GD3) cohort: A 12-year prospective study

المؤلفون: Abdelwahab, Magy, Hassib, Nehal, Schiffmann, Raphael

المصدر: Molecular Genetics and Metabolism ; volume 126, issue 2, page S17 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2018.12.018
https://api.elsevier.com/content/article/PII:S109671921830800X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S109671921830800X?httpAccept=text/plain

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