نتائج البحث - "Mostafa, Mostafa I."

1

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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2

Academic Journal

Abnormal dental phenotypes in GAPO syndrome: A descriptive study with a new ANTXR1 variant & insights on teeth eruption.

المؤلفون: El-Moataz Bellah Ahmed, Nermeen, Mostafa, Mostafa I., Abdel-Hamid, Mohamed S., Mehrez, Mennat

المصدر: Saudi Dental Journal; Sep2024, Vol. 36 Issue 9, p1209-1214, 6p

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3

Academic Journal

Papillon-Lefevre syndrome in twelve Egyptian patients: Five novel CTSC variants and functional characterization of a missense variant and its effect on splicing

المؤلفون: Abdel-Hamid, Mohamed S., Abouzaid, Maha R., Mostafa, Mostafa I., Ahmed, Nermeen EB.

المساهمون: Science and Technology Development Fund

المصدر: Archives of Oral Biology ; volume 158, page 105869 ; ISSN 0003-9969

الاتاحة: http://dx.doi.org/10.1016/j.archoralbio.2023.105869
https://api.elsevier.com/content/article/PII:S0003996923002571?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0003996923002571?httpAccept=text/plain

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4

Academic Journal

Heterogeneity and atypical presentation in infantile systemic hyalinosis with severe labio-gingival

المؤلفون: El-Kamah, Ghada Y, Mostafa, Mostafa I

المصدر: Dermatology Online Journal. 15(5)

وصف الملف: text/html

URL الوصول: https://escholarship.org/uc/item/53h877w4

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5

Academic Journal

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

المؤلفون: Hassib, Nehal F., Mehrez, Mennat, Mostafa, Mostafa I., Abdel-Hamid, Mohamed S.

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

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 simple method to debond a cement-retained implant-supported fixed partial denture from its abutment screw connection: a case report

المؤلفون: Elboraey, Asmaa N., Moussa, Amani R., Nasry, Sherine A., Mostafa, Mostafa I.

المصدر: Bulletin of the National Research Centre ; volume 42, issue 1 ; ISSN 2522-8307

الاتاحة: http://dx.doi.org/10.1186/s42269-018-0002-9
http://link.springer.com/article/10.1186/s42269-018-0002-9/fulltext.html
http://link.springer.com/content/pdf/10.1186/s42269-018-0002-9.pdf

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8

Academic Journal

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

المؤلفون: Hassib, Nehal F., Hellal, Usama S., Mostafa, Mostafa I.

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

9

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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10

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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11

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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12

Academic Journal

Early Detection and Management of Prader-Willi Syndrome in Egyptian Patients

المؤلفون: El-Bassyouni, Hala T., Hassan, Nagwa, Mahfouz, Inas, Abd-Elnaby, Azza E., Mostafa, Mostafa I., Tosson, Angie M.S.

المصدر: Journal of Pediatric Genetics ; volume 08, issue 04, page 179-186 ; ISSN 2146-4596 2146-460X

الاتاحة: http://dx.doi.org/10.1055/s-0039-1695042
http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0039-1695042.pdf

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13

Academic Journal

Frequent genetic disorders associated with missing teeth and revisiting classification of anodontia: a retrospective study.

المؤلفون: Mostafa, Mostafa I., Abdelkader, Mohamed A., Abdelrahman, Moustapha A., Hassib, Nehal F., MostafaSayed, Inas S., Ahmed, Nermeen El-Moataz B., Abdelfattah, Maha I., Mehrez, Mennatahllah I., Khalil, Yasmin M., El-Badry, Tarek H., Abouzaid, Maha R.

المصدر: Middle East Journal of Medical Genetics; Jul-Dec2021, Vol. 10 Issue 2, p95-100, 6p

14

Academic Journal

Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type‐2

المؤلفون: El‐Ruby, Mona, El‐Din Fayez, Alaa, El‐Dessouky, Sara H., Aglan, Mona S., Mazen, Inas, Ismail, Nora, Afifi, Hanan H., Eid, Maha M., Mostafa, Mostafa I., Mehrez, Mennat I., Khalil, Yasmin, Zaki, Maha S., Gaber, Khaled R., Abdel‐Hamid, Mohamed S., Abdel‐Salam, Ghada M. H.

المصدر: American Journal of Medical Genetics Part A ; volume 176, issue 5, page 1190-1194 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.38655
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.38655
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38655
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.a.38655

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15

Academic Journal

PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly

المؤلفون: Zaki, Maha S., Heller, Raoul, Thoenes, Michaela, Nuernberg, Gudrun, Stern-Schneider, Gabi, Nuernberg, Peter, Karnati, Srikanth, Swan, Daniel, Fateen, Ekram, Nagel-Wolfrum, Kerstin, Mostafa, Mostafa I., Thiele, Holger, Wolfrum, Uwe, Baumgart-Vogt, Eveline, Bolz, Hanno J.

مصطلحات موضوعية: ddc:no

Relation: Zaki, Maha S., Heller, Raoul, Thoenes, Michaela, Nuernberg, Gudrun, Stern-Schneider, Gabi, Nuernberg, Peter, Karnati, Srikanth orcid:0000-0001-9083-2916 , Swan, Daniel orcid:0000-0001-8978-8129 , Fateen, Ekram orcid:0000-0002-0777-0417 , Nagel-Wolfrum, Kerstin, Mostafa, Mostafa I., Thiele, Holger, Wolfrum, Uwe, Baumgart-Vogt, Eveline orcid:0000-0002-8265-3763 and Bolz, Hanno J. (2016). PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly. Hum. Mutat., 37 (2). S. 170 - 175. HOBOKEN: WILEY. ISSN 1098-1004

الاتاحة: https://kups.ub.uni-koeln.de/28545/

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