Mona S Aglan: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

1

Brachydactyly

Samia A Temtamy, Mona S Aglan

Journal:

Orphanet Journal of Rare Diseases

Year:

2008

Language:

english

File:

PDF, 5.83 MB

english, 2008

2

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

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.

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 563 KB

english, 2018

3

Blepharophimosisâptosisâintellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum

Zaki, Maha S., Otaify, Ghada A., Ismail, Samira, Issa, Mahmoud Y., ElâRuby, Mona O., Sadek, Abdelrahim A., Ashaat, Engy A., El Saeidi, Sonia A., Aglan, Mona S., Temtamy, Samia, AbdelâHamid, Mohame

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 2.07 MB

2020

4

Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis–van Creveld syndrome with borderline intelligence

Samia A. Temtamy, Mona S. Aglan, Maria Valencia, Guido Cocchi, Maria Pacheco, Adel M. Ashour, Khalda S. Amr, Sanaa M.H. Helmy, Mona A. El-Gammal, Michael Wright, Pablo Lapunzina, Judith A. Goodship, V

Journal:

Year:

2008

Language:

english

File:

PDF, 385 KB

english, 2008

5

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

Víctor Martínez-Glez, Maria Valencia, José A. Caparrós-Martín, Mona Aglan, Samia Temtamy, Jair Tenorio, Veronica Pulido, Uschi Lindert, Marianne Rohrbach, David Eyre, Cecilia Giunta, Pablo Lapunzina,

Journal:

Year:

2012

Language:

english

File:

PDF, 383 KB

english, 2012

6

Dyggve–Melchior–Clausen syndrome: clinical, genetic, and radiological study of 15 Egyptian patients from nine unrelated families

Mona S. Aglan, Samia A. Temtamy, Ekram Fateen, Adel M. Ashour, Khamis Eldeeb, Gamal A. Hosny

Journal:

Journal of Children's Orthopaedics

Year:

2009

Language:

english

File:

PDF, 284 KB

english, 2009

7

Growth charts of Down syndrome in Egypt: A study of 434 children 0–36 months of age

Hanan H. Afifi, Mona S. Aglan, Moushira E. Zaki, Manal M. Thomas, Angie M.S. Tosson

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 1.39 MB

english, 2012

8

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome—Osteogenesis imperfecta phenotypic spectrum

Maria Trinidad Puig-Hervás, Samia Temtamy, Mona Aglan, Maria Valencia, Víctor Martínez-Glez, María Juliana Ballesta-Martínez, Vanesa López-González, Adel M. Ashour, Khalda Amr, Veronica Pulido, Encarn

Journal:

Year:

2012

Language:

english

File:

PDF, 388 KB

english, 2012

9

A scoring system for the assessment of clinical severity in osteogenesis imperfecta

Mona S. Aglan, Laila Hosny, Rasha El-Houssini, Sawsan Abdelhadi, Fadia Salem, Rokia A. S. ElBanna, Seham A. Awad, Moushira E. Zaki, Samia A. Temtamy

Journal:

Journal of Children's Orthopaedics

Year:

2012

Language:

english

File:

PDF, 250 KB

english, 2012

10

The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1

Dan Hanson, Philip G. Murray, Amit Sud, Samia A. Temtamy, Mona Aglan, Andrea Superti-Furga, Sue E. Holder, Jill Urquhart, Emma Hilton, Forbes D.C. Manson, Peter Scambler, Graeme C.M. Black, Peter E. C

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 472 KB

english, 2009

11

LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome

Yun Li, Barbara Pawlik, Nursel Elcioglu, Mona Aglan, Hülya Kayserili, Gökhan Yigit, Ferda Percin, Frances Goodman, Gudrun Nürnberg, Asim Cenani, Jill Urquhart, Boi-Dinh Chung, Samira Ismail, Khalda Am

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 1.35 MB

english, 2010

12

Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta

Pablo Lapunzina, Mona Aglan, Samia Temtamy, José A. Caparrós-Martín, Maria Valencia, Rocío Letón, Victor Martínez-Glez, Rasha Elhossini, Khalda Amr, Nuria Vilaboa, Victor L. Ruiz-Perez

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 370 KB

english, 2010

13

Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling

Yun Li, Kathrin Laue, Samia Temtamy, Mona Aglan, L. Damla Kotan, Gökhan Yigit, Husniye Canan, Barbara Pawlik, Gudrun Nürnberg, Emma L. Wakeling, Oliver W. Quarrell, Ingelore Baessmann, Matthew B. Lank

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 1.77 MB

english, 2010

14

Anthropometric measurements in Egyptian patients with osteogenesis imperfecta

Mona S. Aglan, Moushira E. Zaki, Laila Hosny, Rasha El-Houssini, Ghada Oteify, Samia A. Temtamy

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 230 KB

english, 2012

15

Growth curves of Egyptian patients with Turner syndrome

Hala T. El-Bassyouni, Hanan H. Afifi, Mona S. Aglan, Wael M. Mahmoud, Moushira E. Zaki

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 283 KB

english, 2012

16

Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome

Shaheen, Ranad, Aglan, Mona, Keppler-Noreuil, Kim, Faqeih, Eissa, Ansari, Shinu, Horton, Kim, Ashour, Adel, Zaki, Maha S., Al-Zahrani, Fatema, Cueto-González, Anna M., Abdel-Salam, Ghada, Temtamy, Sam

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 956 KB

english, 2013

17

A Novel Homozygous Mutation in FGFR3 Causes Tall Stature, Severe Lateral Tibial Deviation, Scoliosis, Hearing Impairment, Camptodactyly, and Arachnodactyly

Makrythanasis, Periklis, Temtamy, Samia, Aglan, Mona S., Otaify, Ghada A., Hamamy, Hanan, Antonarakis, Stylianos E.

Journal:

Year:

2014

Language:

english

File:

PDF, 811 KB

english, 2014

18

Further delineation of the clinical spectrum in RNU 4 ATAC related microcephalic osteodysplastic primordial dwarfism type I

Abdel-Salam, Ghada M.H., Abdel-Hamid, Mohamed S., Hassan, Nihal A., Issa, Mahmoud Y., Effat, Laila, Ismail, Samira, Aglan, Mona S., Zaki, Maha S.

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 1.70 MB

english, 2013

19

Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects

Valencia, María, Caparrós-Martin, Jose A., Sirerol-Piquer, María Salomé, García-Verdugo, José Manuel, Martínez-Glez, Víctor, Lapunzina, Pablo, Temtamy, Samia, Aglan, Mona, Lund, Allan M., Nikkels, Pet

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 1.54 MB

english, 2014

20

Exome sequencing in the diagnosis of an atypical phenotype of infantile hyalinosis

Temtamy, Samia A., Aglan, Mona S., Otaify, Ghada A., Abdel-Hamid, Mohamed, Ismail, Somaia, Makrythanasis, Periklis, Hamamy, Hanan, Antonarakis, Stylianos E.

Journal:

Middle East Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 435 KB

english, 2015

21

Definition of the phenotypic spectrum of Temtamy preaxial brachydactyly syndrome associated with autosomal recessive CHYS1 mutations

Temtamy, Samia, Aglan, Mona, Topaloglu, A. Kemal, Wollnik, Bernd, Amr, Khalda, El-Badry, Tarek H., Hosny, Gamal A., Eldin, Nermine Salah, Shboul, Mohammad, Herdem, Mustafa, Ong, Junxian, Reversade, Br

Journal:

Middle East Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 681 KB

english, 2012

22

Consanguinity and genetic disorders in Egypt

Temtamy, Samia, Aglan, Mona

Journal:

Middle East Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 326 KB

english, 2012

23

Environmental risk factors in isolated limb reduction defects

Esmail, Asmaa M., Ashour, Adel M., Hosny, Laila, Sawey, Mohamed, Zaki, Osama K., Zaki, Moushira E., Aglan, Mona, Temtamy, Samia

Journal:

Middle East Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 973 KB

english, 2014

24

Mutational spectrum of COL1A1 and COL1A2 in Egyptian patients with autosomal dominant osteogenesis imperfecta with clinical severity score and genotype/phenotype correlation

Aglan, Mona S., Abdel-Hamid, Mohamed S., Otaify, Ghada A., Ismail, Somaia M., Effat, Laila K., Temtamy, Samia A.

Journal:

Middle East Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 537 KB

english, 2015

25

A report of another Egyptian patient with Temtamy preaxial brachydactyly syndrome associated with a novel nonsense CHSY1 mutation

Aglan, Mona, Abdel-Hamid, Mohamed, Ismail, Somaia, Temtamy, Samia A.

Journal:

Middle East Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 444 KB

english, 2014

26

Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations

Aglan, Mona, Amr, Khalda, Ismail, Samira, Ashour, Adel, Otaify, Ghada A., Mehrez, Mennat Allah I., Aboul-Ezz, Eman H. A., El-Ruby, Mona, Mazen, Inas, Abdel-Hamid, Mohamed S., Temtamy, Samia A.

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 1.56 MB

english, 2015

27

Adams???Oliver syndrome: further evidence of an autosomal recessive variant

Temtamy, Samia A., Aglan, Mona S., Ashour, Adel M., Zaki, Maha S.

Journal:

Clinical Dysmorphology

Year:

2007

Language:

english

File:

PDF, 473 KB

english, 2007

28

Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations inMLC1andHEPACAMand a founder effect

Abdel-Salam, Ghada M. H., Abdel-Hamid, Mohamed S., Ismail, Samira I., Hosny, Heba, Omar, Tarek, Effat, Laila, Aglan, Mona S., Temtamy, Samia A., Zaki, Maha S.

Journal:

Metabolic Brain Disease

Year:

2016

Language:

english

File:

PDF, 4.48 MB

english, 2016

29

3-M syndrome: a report of three Egyptian cases with review of the literature

Temtamy, Samia A., Aglan, Mona S., Ashour, Adel M., Ramzy, Magda I., Hosny, Laila A., Mostafa, Mostafa I.

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 641 KB

english, 2006

30

Limb malformations with associated congenital constriction rings in two unrelated Egyptian males, one with a disorganization-like spectrum and the other with a probable distinct type of septo-optic dysplasia

Temtamy, Samia A., Aglan, Mona S., Ashour, Adel M., El-Badry, Tarek H.

Journal:

Clinical Dysmorphology

Year:

2010

Language:

english

File:

PDF, 552 KB

english, 2010

31

Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease

Fateen, Ekram M., El Mawgoud, Hanan Abd, Eissa, Noura R., Ibrahim, Mona M., Aglan, Mona S., Essawi, Mona L.

Journal:

Year:

2016

Language:

english

File:

PDF, 691 KB

english, 2016

32

Influence of bioactive sulfated polysaccharide-protein complexes on hepatocarcinogenesis, angiogenesis and immunomodulatory activities

Matloub, Azza A., Aglan, Hadeer A., Mohamed El Souda, Sahar Salah, Aboutabl, Mona Elsayed, Maghraby, Amany Sayed, Ahmed, Hanaa H.

Journal:

Asian Pacific Journal of Tropical Medicine

Year:

2016

Language:

english

File:

PDF, 2.26 MB

english, 2016

33

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

Caparros-Martin, Jose A., Aglan, Mona S., Temtamy, Samia, Otaify, Ghada A., Valencia, Maria, Nevado, Julián, Vallespin, Elena, Del Pozo, Angela, Prior de Castro, Carmen, Calatrava-Ferreras, Lucia, Gut

Journal:

Molecular Genetics & Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 126 KB

english, 2017

34

Clinical and cytogenetic description of three patients with constitutional mosaic trisomy 8

Ismail, Samira, Kamel, Alaa K., Eid, Maha M., Elruby, Mona O., Aglan, Mona S., Mekkawy, Mona K., Zaki, Maha S., Mohamed, Amal M., Helmy, Nivine A., Temtamy, Samia A.

Journal:

Middle East Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 262 KB

english, 2017

35

Cytoskeleton and nuclear lamina affection in recessive osteogenesis imperfecta: A functional proteomics perspective

Gagliardi, Assunta, Besio, Roberta, Carnemolla, Chiara, Landi, Claudia, Armini, Alessandro, Aglan, Mona, Otaify, Ghada, Temtamy, Samia A., Forlino, Antonella, Bini, Luca, Bianchi, Laura

Journal:

Journal of Proteomics

Year:

2017

Language:

english

File:

PDF, 1.03 MB

english, 2017

36

Nager acrofacial dysostosis with a novel mutation in SF3B4 and developmental retardation in an Egyptian child

Ismail, Samira, Fayez, Alaaeldin, Otaify, Ghada A., Sayed, Inas, El Ruby, Mona O., Aglan, Mona S., Temtamy, Samia A.

Journal:

Middle East Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 328 KB

english, 2017

37

Exploiting bilosomes for delivering bioactive polysaccharide isolated from Enteromorpha intestinalis for hacking hepatocellular carcinoma

Matloub, Azza Abdelmageed, Salama, Alaa Hamed, Ahmed Aglan, Hadeer, AbouSamra, Mona Mahmoud, ElSouda, Sahar Salah Mohamed, Ahmed, Hanaa Hamdy

Journal:

Drug Development and Industrial Pharmacy

Year:

2017

Language:

english

File:

PDF, 1.10 MB

english, 2017

38

FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta

Doyard, Mathilde, Bacrot, Séverine, Huber, Céline, Di Rocco, Maja, Goldenberg, Alice, Aglan, Mona S, Brunelle, Perrine, Temtamy, Samia, Michot, Caroline, Otaify, Ghada A, Haudry, Coralie, Castanet, Mi

Journal:

Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 1.43 MB

english, 2018

39

A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis

Fayez, Alaaeldin, Aglan, Mona, Esmaiel, Nora, El Zanaty, Taher, Abdel Kader, Mohamed, El Ruby, Mona

Journal:

BioMed Research International

Year:

2015

Language:

english

File:

PDF, 2.00 MB

english, 2015

40

Phenotypic and molecular insights into PQBP1 -related intellectual disability

Abdel-Salam, Ghada M. H., Miyake, Noriko, Abdel-Hamid, Mohamed S., Sayed, Inas S. M., Gadelhak, Mohamed I., Ismail, Samira I., Aglan, Mona S., Afifi, Hanan H., Temtamy, Samia A., Matsumoto, Naomichi

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 2.49 MB

english, 2018

41

GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion

Abdel-Hamid, Mohamed S., Ismail, Samira, Zaki, Maha S., Abdel-Salam, Ghada M. H., Otaify, Ghada A., Issa, Mahmoud Y., Abdel-Kader, Mohamed, Girgis, Marian, Aboul-Ezz, Eman, Mazen, Inas, Aglan, Mona S.

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 1.11 MB

english, 2018

42

Differential diagnosis of mucopolysaccharidosis and oligosaccharidosis of a sample of Egyptian children

Fateen, Ekram, Ismail, Manal Fouad, El-Boghdady, Noha Ahmed, Aglan, Mona, Ibrahim, Mona, Radwan, Amira

Journal:

Bulletin of Faculty of Pharmacy Cairo University

Year:

2018

Language:

english

File:

PDF, 212 KB

english, 2018

43

Cellular stress due to impairment of collagen prolyl hydroxylation complex is rescued by the chaperone 4-phenylbutyrate

Besio, Roberta, Garibaldi, Nadia, Leoni, Laura, Cipolla, Lina, Sabbioneda, Simone, Biggiogera, Marco, Mottes, Monica, Aglan, Mona, Otaify, Ghada A., Temtamy, Samia A., Rossi, Antonio, Forlino, Antonel

Journal:

Disease Models & Mechanisms

Year:

2019

Language:

english

File:

PDF, 7.41 MB

english, 2019

44

Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation

Abdel-Salam, Ghada M. H., Sayed, Inas S. M., Afifi, Hanan H., Abdel-Ghafar, Sherif F., Abouzaid, Maha R., Ismail, Samira I., Aglan, Mona S., Issa, Mahmoud Y., EL-Bassyouni, Hala T., El-Kamah, Ghada, E

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 3.86 MB

2020

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@z-lib.do

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски