Abdel-Salam, Ghada M. H. : rechercher sur Z-Library

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1

Genomic and phenotypic delineation of congenital microcephaly

Shaheen, Ranad, Maddirevula, Sateesh, Ewida, Nour, Alsahli, Saud, Abdel-Salam, Ghada M. H., Zaki, Maha S., Tala, Saeed Al, Alhashem, Amal, Softah, Ameen, Al-Owain, Mohammed, Alazami, Anas M., Abadel,

Journal:

Genetics in Medicine

Année:

2018

Langue:

english

Fichier:

PDF, 3.95 MB

english, 2018

2

Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype

Ghada M. H. Abdel-Salam, Laura Flores-Sarnat, Mona O. El-Ruby, Jillian Parboosingh, Peter Bridge, Maha M. Eid, Tarek H. El-Badry, Laila Effat, Paolo Curatolo, Samia A. Temtamy

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 241 KB

english, 2011

3

Photolysis of sulfamethoxypyridazine in various aqueous media: Aerobic biodegradation and identification of photoproducts by LC-UV–MS/MS

Khaleel, Nareman D.H., Mahmoud, Waleed M.M., Hadad, Ghada M., Abdel-Salam, Randa A., Kümmerer, Klaus

Journal:

Journal of Hazardous Materials

Année:

2013

Langue:

english

Fichier:

PDF, 721 KB

english, 2013

4

The supposed tumor suppressor geneWWOXis mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration

Abdel-Salam, Ghada, Thoenes, Michaela, Afifi, Hanan H, Körber, Friederike, Swan, Daniel, Bolz, Hanno

Journal:

Orphanet Journal of Rare Diseases

Année:

2014

Langue:

english

Fichier:

PDF, 324 KB

english, 2014

5

Molecular and phenotypic spectrum of ASPM -related primary microcephaly: Identification of eight novel mutations

Abdel-Hamid, Mohamed S., Ismail, Manal F., Darwish, Hebatallh A., Effat, Laila K., Zaki, Maha S., Abdel-Salam, Ghada M. H.

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 341 KB

english, 2016

6

Tolerance intervals modeling for design space of a salt assisted liquid-liquid microextraction of trimethoprim and six common sulfonamide antibiotics in environmental water samples

Mokhtar, Hatem I., Abdel-Salam, Randa A., Hadad, Ghada M.

Journal:

Journal of Chromatography A

Année:

2018

Langue:

english

Fichier:

PDF, 1018 KB

english, 2018

7

Microcephaly with chorioretinal dysplasia: Characteristic facial features

Ghada M.H. Abdel-Salam, Andrew E. Czeizel, Gábor Vogt, Laszlo Imre

Journal:

American Journal of Medical Genetics Part A

Année:

2000

Langue:

english

Fichier:

PDF, 170 KB

english, 2000

8

Oto-spondylo-megaepiphyseal dysplasia (OSMED): Clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene

Samia A. Temtamy, Minna Männikkö, Ghada M.H. Abdel-Salam, Nihal A. Hassan, Leena Ala-Kokko, Hanan H. Afifi

Journal:

American Journal of Medical Genetics Part A

Année:

2006

Langue:

english

Fichier:

PDF, 272 KB

english, 2006

9

Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation

Maha Zaki, Marwa Shehab, Alice Abd El-Aleem, Ghada Abdel-Salam, Hajira B. Koeller, Yesim Ilkin, M. Elizabeth Ross, William B. Dobyns, Joseph G. Gleeson

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 253 KB

english, 2007

10

Microcephaly, malformation of brain development and intracranial calcification in sibs: Pseudo-TORCH or a new syndrome

Ghada M.H. Abdel-Salam, Maha S. Zaki, Sahar N. Saleem, Khaled R. Gaber

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 181 KB

english, 2008

11

Band-like intracranial calcification (BIC), microcephaly and malformation of brain development: A distinctive form of congenital infection like syndromes

Ghada M.H. Abdel-Salam, Maha S. Zaki

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 109 KB

english, 2009

12

A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder

Ghada M.H. Abdel-Salam, Noriko Miyake, Maha M. Eid, Mohamed S. Abdel-Hamid, Nihal A. Hassan, Ola M. Eid, Laila K. Effat, Tarek H. El-Badry, Ghada Y. El-Kamah, Mohamed El-Darouti, Naomichi Matsumoto

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 347 KB

english, 2011

13

Association of epilepsy with different groups of microcephaly

Ghada M H Abdel-Salam, Adrienne A Halász, Andrew E Czeizel

Journal:

Developmental Medicine & Child Neurology

Année:

2000

Langue:

english

Fichier:

PDF, 106 KB

english, 2000

14

Ectodermal Abnormalities in Patients with Kabuki Syndrome

Ghada M.H. Abdel-Salam, Hanan H. Afifi, Maha M. Eid, Tarek H. El-Badry, Naglaa Kholoussi

Journal:

Pediatric Dermatology

Année:

2011

Langue:

english

Fichier:

PDF, 153 KB

english, 2011

15

Alopecia Universalis, Cleft Palate and Lip, Hypohydrosis, Hypodontia, Nail Dysplasia and Syndactyly: New Ectodermal Dysplasia Syndrome?

Ghada M.E. ABDEL-SALAM, M. BUCSEK, A.E. CZEIZEL

Journal:

Congenital Anomalies

Année:

1999

Langue:

english

Fichier:

PDF, 1.06 MB

english, 1999

16

Validated Optimized Method for Simultaneous Analysis of Active Silymarin Components and Dimethyl-4,4′-dimethoxy-5,6,5′,6′-dimethylene Dioxybiphenyl-2,2′-dicarboxylate in a Pharmaceutical Preparation by Use of a Monolithic Silica C18Column

Ghada M. Hadad, Samy Emara, Randa A. Abdel-Salam

Journal:

Chromatographia

Année:

2009

Langue:

english

Fichier:

PDF, 279 KB

english, 2009

17

Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I

Ghada M.H. Abdel-Salam, Mohamed S. Abdel-Hamid, Mahmoud Issa, Ahmed Magdy, Ahmed El-Kotoury, Khalda Amr

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 273 KB

english, 2012

18

Profound microcephaly, primordial dwarfism with developmental brain malformations: A new syndrome

Ghada M.H. Abdel-Salam, Mohamed S. Abdel-Hamid, Sahar N. Saleem, Mahmoud K.H. Ahmed, Mahmoud Issa, Laila K. Effat, Hisham F. Kayed, Maha S. Zaki, Khaled R. Gaber

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 511 KB

english, 2012

19

Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria

Mary C. O'Driscoll, Sarah B. Daly, Jill E. Urquhart, Graeme C.M. Black, Daniela T. Pilz, Knut Brockmann, Meriel McEntagart, Ghada Abdel-Salam, Maha Zaki, Nicole I. Wolf, Roger L. Ladda, Susan Sell, St

Journal:

The American Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 1.36 MB

english, 2010

20

Isolated Dandy–Walker malformation associated with brain stem dysgenesis in male sibs

Ghada M.H. Abdel-Salam, Marwa Shehab, Maha S. Zaki

Journal:

Brain and Development

Année:

2006

Langue:

english

Fichier:

PDF, 197 KB

english, 2006

21

A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS)

Prof. Ghada M.H. Abdel-Salam, Ashleigh E. Schaffer, Maha S. Zaki, Tracy Dixon-Salazar, Inas S. Mostafa, Hanan H. Afifi, Joseph G. Gleeson

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 350 KB

english, 2012

22

Simultaneous Determination of 11 Sulfonamides by HPLC-UV and Application for Fast Screening of Their Aerobic Elimination and Biodegradation in a Simple Test

Mahmoud, Waleed M. M., Khaleel, Nareman D. H., Hadad, Ghada M., Abdel-Salam, Randa A., Haiß, Annette, Kümmerer, Klaus

Journal:

CLEAN – Soil, Air, Water

Année:

2013

Langue:

english

Fichier:

PDF, 612 KB

english, 2013

23

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

Année:

2013

Langue:

english

Fichier:

PDF, 956 KB

english, 2013

24

Endogenous bone marrow stem cell mobilization in rats: Its potential role in homing and repair of damaged inner ear

Elbana, Ahmed M., Abdel-Salam, Seddik, Morad, Ghada M., Ibrahim, Mohamed, Omran, Ahmed A.

Journal:

Egyptian Journal of Ear Nose Throat and Allied Sciences

Année:

2015

Langue:

english

Fichier:

PDF, 2.54 MB

english, 2015

25

Optimized and validated flow-injection spectrophotometric analysis of topiramate, piracetam and levetiracetam in pharmaceutical formulations

Hadad, Ghada, Abdel-Salam, Randa, Emara, Samy

Journal:

Acta Pharmaceutica

Année:

2011

Langue:

english

Fichier:

PDF, 157 KB

english, 2011

26

Gómez-López-hernández syndrome versus rhombencephalosynapsis spectrum: A rare co-occurrence with bipartite parietal bone

Abdel-Salam, Ghada M.H., Abdel-Hadi, Sawsan, Thomas, Manal M., Eid, Ola M., Ali, Manal M., Afifi, Hanan H.

Journal:

American Journal of Medical Genetics Part A

Année:

2014

Langue:

english

Fichier:

PDF, 265 KB

english, 2014

27

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

Année:

2013

Langue:

english

Fichier:

PDF, 1.70 MB

english, 2013

28

Microcephaly with normal intelligence, and chorioretinopathy

Abdel-Salam, Ghada M.H., Vogt, Gábor, Halász, Adrienne, Czeizel, Andrew E.

Journal:

Ophthalmic Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 150 KB

english, 1999

29

Design Space Calculation by In Silico Robustness Simulation with Modeling Error Propagation in QbD Framework of RP-HPLC Method Development

Mokhtar, Hatem I., Abdel-Salam, Randa A., Hadad, Ghada M.

Journal:

Chromatographia

Année:

2015

Langue:

english

Fichier:

PDF, 1.49 MB

english, 2015

30

Development of a fast high performance liquid chromatographic screening system for eight antidiabetic drugs by an improved methodology of in-silico robustness simulation

Mokhtar, Hatem I., Abdel-Salam, Randa A., Hadad, Ghada M.

Journal:

Journal of Chromatography A

Année:

2015

Langue:

english

Fichier:

PDF, 3.13 MB

english, 2015

31

A Case-Control Etiologic Study of Microcephaly

Ghada Abdel-Salam and Andrew E. Czeizel

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 876 KB

english, 2000

32

Mutation in WDR4 impairs tRNA m7G46 methylation and causes a distinct form of microcephalic primordial dwarfism

Shaheen, Ranad, Abdel-Salam, Ghada M H, Guy, Michael P., Alomar, Rana, Abdel-Hamid, Mohamed S., Afifi, Hanan H., Ismail, Samira I., Emam, Bayoumi A., Phizicky, Eric M., Alkuraya, Fowzan S.

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 1.64 MB

english, 2015

33

A Case-Control Etiologic Study of Microcephaly

Abdel-Salam, Ghada, Czeizel, Andrew E.

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 102 KB

english, 2000

34

Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype

Abdel-Salam, Ghada M.H., Abdel-Hamid, Mohamed S., El-Khayat, Hamed A., Eid, Ola M., Saba, Soliman, Farag, Mona K., Saleem, Sahar N., Gaber, Khaled R.

Journal:

American Journal of Medical Genetics Part A

Année:

2015

Langue:

english

Fichier:

PDF, 1.50 MB

english, 2015

35

Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene

Rosti, Rasim O., Dikoglu, Esra, Zaki, Maha S., Abdel-Salam, Ghada, Makhseed, Nawal, Sese, Jordan C., Musaev, Damir, Rosti, Basak, Harbert, Mary J., Jones, Marilyn C., Vaux, Keith K., Gleeson, Joseph G

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 930 KB

english, 2016

36

PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive

Zaki, Maha S., Bhat, Gifty, Sultan, Tipu, Issa, Mahmoud, Jung, Hea-Jin, Dikoglu, Esra, Selim, Laila, G. Mahmoud, Imam, Abdel-Hamid, Mohamed S., Abdel-Salam, Ghada, Marin-Valencia, Isaac, Gleeson, Jose

Journal:

Annals of Neurology

Année:

2016

Langue:

english

Fichier:

PDF, 662 KB

english, 2016

37

De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features

Afifi, Hanan H., Fukai, Ryoko, Miyake, Noriko, Gamal el Din, Amina A., Eid, Maha M., Eid, Ola M., Thomas, Manal M., El-Badry, Tarek H., Tosson, Angie M. S., Abdel-Salam, Ghada M. H., Matsumoto, Naomic

Journal:

American Journal of Medical Genetics Part A

Année:

2015

Langue:

english

Fichier:

PDF, 2.12 MB

english, 2015

38

Expanding the mutation and clinical spectrum of Roberts syndrome

Afifi, Hanan H., Abdel-Salam, Ghada M.H., Eid, Maha M., Tosson, Angie M.S., Shousha, Wafaa Gh., Abdel Azeem, Amira A., Farag, Mona K., Mehrez, Mennat I., Gaber, Khaled R.

Journal:

Congenital Anomalies

Année:

2016

Langue:

english

Fichier:

PDF, 786 KB

english, 2016

39

De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder

Afifi, Hanan H., Abdel-Hamid, Mohamed S., Eid, Maha M., Mostafa, Inas S., Abdel-Salam, Ghada M.H.

Journal:

Pediatric Dermatology

Année:

2016

Langue:

english

Fichier:

PDF, 441 KB

english, 2016

40

The second unrelated case with isolated microcephaly and normal intelligence (Microcephalia vera)

Abdel-Salam, Ghada, Czeizel, Andrew E.

Journal:

Clinical Dysmorphology

Année:

2000

Fichier:

PDF, 823 KB

2000

41

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

Année:

2016

Langue:

english

Fichier:

PDF, 4.48 MB

english, 2016

42

Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome

Miyake, Noriko, Abdel-Salam, Ghada, Yamagata, Takanori, Eid, Maha M., Osaka, Hitoshi, Okamoto, Nobuhiko, Mohamed, Amal M., Ikeda, Takahiro, Afifi, Hanan H., Piard, Juliette, van Maldergem, Lionel, Miz

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 3.53 MB

english, 2016

43

Long-term survival in microcephalic osteodysplastic primordial dwarfism type I: Evaluation of an 18-year-old male with g.55G>A homozygous mutation in RNU4ATAC

Abdel-Salam, Ghada M.H., Emam, Bayoumi A., Khalil, Yasmin M., Abdel-Hamid, Mohamed S.

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 604 KB

english, 2016

44

Mutations inCIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans

Shaheen, Ranad, Hashem, Amal, Abdel-Salam, Ghada M. H., Al-Fadhli, Fatima, Ewida, Nour, Alkuraya, Fowzan S.

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 957 KB

english, 2016

45

Genetic analysis of SOX2 and VSX2 genes in 27 Egyptian families with anophthalmia and microphthalmia

Ammar, Tamer H. A., Ismail, Somaia, Mansour, Ossama Abd Al-Motaal, El-Shafey, Mostafa M., Doghish, Ahmed S., Kamal, Ahmad M., Abdel-Salam, Ghada M. H.

Journal:

Ophthalmic Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 844 KB

english, 2017

46

Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations

Abdel-Hamid, Mohamed S, Abdel-Salam, Ghada M H, Issa, Mahmoud Y, Emam, Bayoumi A, Zaki, Maha S

Journal:

Journal of Human Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 1.29 MB

english, 2017

47

Aicardi-Goutières syndrome: unusual neuro-radiological manifestations

Abdel-Salam, Ghada M. H., Abdel-Hamid, Mohamed S., Mohammad, Shaimaa A., Abdel-Ghafar, Sherif F., Soliman, Doaa R., EL-Bassyouni, Hala T., Effat, Laila, Zaki, Maha S.

Journal:

Metabolic Brain Disease

Année:

2017

Langue:

english

Fichier:

PDF, 746 KB

english, 2017

48

GWAS signals revisited using human knockouts

Maddirevula, Sateesh, AlZahrani, Fatema, Anazi, Shams, Almureikhi, Mariam, Ben-Omran, Tawfeg, Abdel-Salam, Ghada M H, Hashem, Mais, Ibrahim, Niema, Abdulwahab, Firdous M, Meriki, Neama, Bashiri, Fahad

Journal:

Genetics in Medicine

Année:

2017

Langue:

english

Fichier:

PDF, 537 KB

english, 2017

49

TLC-densitometric and first derivative spectrophotometric methods for determination of cefoxitin-sodium in presence of its alkali-induced degradation product

Attia, Khalid Abdel-Salam M., Abdel-Aziz, Omar, Magdy, Nancy, Mohamed, Ghada F.

Journal:

Bulletin of Faculty of Pharmacy Cairo University

Année:

2017

Langue:

english

Fichier:

PDF, 505 KB

english, 2017

50

Attenuation of Bleomycin-induced pulmonary fibrosis in rats by flavocoxid treatment

Zaghloul, Marwa Salah, Abdel-Salam, Ramy Ahmed, Said, Eman, Suddek, Ghada Mohamed, Salem, Hatem Abdel-Rahman

Journal:

Egyptian Journal of Basic and Applied Sciences

Année:

2017

Langue:

english

Fichier:

PDF, 2.44 MB

english, 2017