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  1. Article ; Online: The Development of Human Genetics at the National Research Centre, Cairo, Egypt: A Story of 50 Years.

    Temtamy, Samia A

    Annual review of genomics and human genetics

    2019  Volume 20, Page(s) 1–19

    Abstract: This article describes my experiences over more than 50 years in initiating and maintaining research on human genetics and genomics at the National Research Centre in Cairo, Egypt, from its beginnings in a small unit of human genetics to the creation of ... ...

    Abstract This article describes my experiences over more than 50 years in initiating and maintaining research on human genetics and genomics at the National Research Centre in Cairo, Egypt, from its beginnings in a small unit of human genetics to the creation of the Center of Excellence for Human Genetics. This was also the subject of a lecture I gave at the 10th Conference of the African Society of Human Genetics, held in Cairo in November 2017, after which Professor Michèle Ramsay, president of the society, suggested that I write an autobiographical article for the
    MeSH term(s) Academies and Institutes/history ; Academies and Institutes/organization & administration ; Awards and Prizes ; Egypt ; Hand Deformities, Congenital/genetics ; Hand Deformities, Congenital/history ; History, 20th Century ; History, 21st Century ; Human Genetics/history ; Human Genetics/organization & administration ; Humans ; International Cooperation
    Language English
    Publishing date 2019-03-08
    Publishing country United States
    Document type Autobiography ; Historical Article ; Journal Article ; Portrait
    ZDB-ID 2037670-4
    ISSN 1545-293X ; 1527-8204
    ISSN (online) 1545-293X
    ISSN 1527-8204
    DOI 10.1146/annurev-genom-083118-015201
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Se 2016: Show issues Location:
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    ab Jg. 2022: Lesesaal (EG)

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  2. Book ; Conference proceedings: The First International Conference of Human Genetics & Physical Anthropology

    Temtamy, Samia A.

    December 9 - 12, 1989, Cairo, Egypt

    (The journal of the Egyptian Public Health Association ; 66, Suppl.)

    1994  

    Event/congress International Conference of Human Genetics & Physical Anthropology (1, 1989, al-Qāhira)
    Author's details president of the organizing committee Samia A. Temtamy
    Series title The journal of the Egyptian Public Health Association ; 66, Suppl.
    The Journal of the Egyptian Public Health Association
    Collection The Journal of the Egyptian Public Health Association
    Keywords Genetics, Population / congresses ; Cytogenetics / congresses ; Dermatoglyphics / congresses ; Hereditary Diseases / congresses
    Language English
    Size XXXII, 650 S. : Ill., graph. Darst.
    Publishing place Cairo
    Publishing country Egypt
    Document type Book ; Conference proceedings
    HBZ-ID HT007242569
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    Zs B 753 -66,Suppl.- verfügbar in Königswinter Königswinter

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  3. Article ; Online: Two different Temtamy syndromes.

    Temtamy, Samia A

    Clinical dysmorphology

    2013  Volume 22, Issue 2, Page(s) 91

    MeSH term(s) Fingers/abnormalities ; Humans ; Intellectual Disability/complications ; Male ; Toes/abnormalities
    Language English
    Publishing date 2013-04
    Publishing country England
    Document type Comment ; Letter
    ZDB-ID 1121482-x
    ISSN 1473-5717 ; 0962-8827
    ISSN (online) 1473-5717
    ISSN 0962-8827
    DOI 10.1097/MCD.0b013e32835ca069
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 3528: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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  4. Article ; Online: Using Online Mendelian Inheritance in Man in low- and middle-income countries.

    de Macena Sobreira, Nara Lygia / Repetto, Gabriela M / Temtamy, Samia A / Alvarez Perez, Ana Beatriz

    American journal of medical genetics. Part A

    2021  Volume 185, Issue 11, Page(s) 3284–3286

    Abstract: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders, has been used in the low- and middle-income countries largely as a tool for improving clinical care, teaching genetics and genomics, and for clinical and ...

    Abstract Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders, has been used in the low- and middle-income countries largely as a tool for improving clinical care, teaching genetics and genomics, and for clinical and research analysis of next-generation sequencing. By facilitating free access to curated, updated, and comprehensive information in genetics and genomics, OMIM has led to better clinical care and research advancement in countries where clinicians and researchers in private or public hospitals and universities cannot afford to pay for other resources including journal subscriptions.
    MeSH term(s) Chromosome Mapping ; Databases, Genetic/economics ; Developing Countries/economics ; Genetic Diseases, Inborn/economics ; Genetic Diseases, Inborn/epidemiology ; Genetic Diseases, Inborn/genetics ; Genetics, Medical/economics ; Genomics/economics ; High-Throughput Nucleotide Sequencing/economics ; Humans ; Mass Screening/economics ; Phenotype
    Language English
    Publishing date 2021-09-07
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.62467
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 1376/A: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  5. Article: Catel-Manzke digitopalatal syndrome or Temtamy preaxial brachydactyly hyperphalangism syndrome?

    Temtamy, Samia A

    Clinical dysmorphology

    2005  Volume 14, Issue 4, Page(s) 211

    MeSH term(s) Abnormalities, Multiple/genetics ; Abnormalities, Multiple/pathology ; Child, Preschool ; Female ; Follow-Up Studies ; Foot Deformities, Congenital/pathology ; Hand Deformities, Congenital/pathology ; Humans ; Infant ; Infant, Newborn ; Syndrome
    Language English
    Publishing date 2005-09-01
    Publishing country England
    Document type Comment ; Letter
    ZDB-ID 1121482-x
    ISSN 1473-5717 ; 0962-8827
    ISSN (online) 1473-5717
    ISSN 0962-8827
    DOI 10.1097/00019605-200510000-00010
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 3528: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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  6. Article: First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous

    Thomas, Manal M / Ashaat, Engy A / Otaify, Ghada A / Ismail, Samira / Essawi, Mona L / Abdel-Hamid, Mohamed S / Hassan, Heba A / Alsaiedi, Sonia A / Aglan, Mona / El Ruby, Mona O / Temtamy, Samia

    Molecular syndromology

    2021  Volume 12, Issue 5, Page(s) 279–288

    Abstract: Desbuquois dysplasia type 1 (DBQD1) is a very rare skeletal dysplasia characterized by growth retardation, short stature, distinct hand features, and a characteristic radiological monkey wrench appearance at the proximal femur. We report on 2unrelated ... ...

    Abstract Desbuquois dysplasia type 1 (DBQD1) is a very rare skeletal dysplasia characterized by growth retardation, short stature, distinct hand features, and a characteristic radiological monkey wrench appearance at the proximal femur. We report on 2unrelated Egyptian patients having the characteristic features of DBQD1 with different expressivity. Patient 1 presented at the age of 45 days with respiratory distress, short limbs, faltering growth, and distinctive facies while patient 2 presented at 5 years of age with short stature and hypospadias. The 2 patients shared radiological features suggestive of DBQD1. Whole-exome sequencing revealed a homozygous frameshift mutation in the
    Language English
    Publishing date 2021-07-22
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2546218-0
    ISSN 1661-8777 ; 1661-8769
    ISSN (online) 1661-8777
    ISSN 1661-8769
    DOI 10.1159/000516607
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  7. Article ; Online: Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene.

    Essawi, Mona L / Fateen, Ekram M / Atia, Hanan A / Eissa, Noura R / Aboul-Ezz, Eman H / Ibrahim, Mona M / Hassan, Heba A / Temtamy, Samia A

    Journal, genetic engineering & biotechnology

    2021  Volume 19, Issue 1, Page(s) 111

    Abstract: Background: Mucolipidosis II (ML II α/β) is an inherited lysosomal storage disorder caused by deficiency of GlcNAc-phosphotransferase enzyme and results in mis-targeting of multiple lysosomal enzymes. Affected patients are characterized by skeletal ... ...

    Abstract Background: Mucolipidosis II (ML II α/β) is an inherited lysosomal storage disorder caused by deficiency of GlcNAc-phosphotransferase enzyme and results in mis-targeting of multiple lysosomal enzymes. Affected patients are characterized by skeletal deformities and developmental delay. Homozygous or compound heterozygous mutations in GNPTAB gene are associated with the clinical presentation. This is the first study to characterize the underlying genetics of ML among a cohort of Egyptian patients. ML II diagnosis established by clinical assessment, biochemical evaluation of enzymes, electron microscopy examination of gingival inclusion bodies, and molecular study of GNPTAB gene using targeted next-generation sequencing panel in 8 patients form 8 unrelated Egyptian families.
    Results: Sequencing revealed 3 mutations in GNPTAB gene; 1 novel frame-shift mutation in exon 19 (c.3488_3488delC) and 2 previously reported mutations (c.1759C>T in exon 13 and c.3503_3504delTC in exon 19). All patients were homozygous for their corresponding mutations and the parents were consanguineous.
    Conclusions: According to the established quaternary diagnostic scheme, ML II was the final diagnosis in eight patients. The most common mutation was the frame shift c.3503_3504delTC mutation, found in 5 patients and associated with a severe phenotype.
    Language English
    Publishing date 2021-08-03
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 2637420-1
    ISSN 2090-5920 ; 1687-157X ; 2090-5920
    ISSN (online) 2090-5920
    ISSN 1687-157X ; 2090-5920
    DOI 10.1186/s43141-021-00204-4
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  8. Article: 3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc disease.

    Kague, Erika / Turci, Francesco / Newman, Elis / Yang, Yushi / Brown, Kate Robson / Aglan, Mona S / Otaify, Ghada A / Temtamy, Samia A / Ruiz-Perez, Victor L / Cross, Stephen / Royall, C Patrick / Witten, P Eckhard / Hammond, Chrissy L

    Bone research

    2021  Volume 9, Issue 1, Page(s) 39

    Abstract: Back pain is a common condition with a high social impact and represents a global health burden. Intervertebral disc disease (IVDD) is one of the major causes of back pain; no therapeutics are currently available to reverse this disease. The impact of ... ...

    Abstract Back pain is a common condition with a high social impact and represents a global health burden. Intervertebral disc disease (IVDD) is one of the major causes of back pain; no therapeutics are currently available to reverse this disease. The impact of bone mineral density (BMD) on IVDD has been controversial, with some studies suggesting osteoporosis as causative for IVDD and others suggesting it as protective for IVDD. Functional studies to evaluate the influence of genetic components of BMD in IVDD could highlight opportunities for drug development and repurposing. By taking a holistic 3D approach, we established an aging zebrafish model for spontaneous IVDD. Increased BMD in aging, detected by automated computational analysis, is caused by bone deformities at the endplates. However, aged zebrafish spines showed changes in bone morphology, microstructure, mineral heterogeneity, and increased fragility that resembled osteoporosis. Elements of the discs recapitulated IVDD symptoms found in humans: the intervertebral ligament (equivalent to the annulus fibrosus) showed disorganized collagen fibers and herniation, while the disc center (nucleus pulposus equivalent) showed dehydration and cellular abnormalities. We manipulated BMD in young zebrafish by mutating sp7 and cathepsin K, leading to low and high BMD, respectively. Remarkably, we detected IVDD in both groups, demonstrating that low BMD does not protect against IVDD, and we found a strong correlation between high BMD and IVDD. Deep learning was applied to high-resolution synchrotron µCT image data to analyze osteocyte 3D lacunar distribution and morphology, revealing a role of sp7 in controlling the osteocyte lacunar 3D profile. Our findings suggest potential avenues through which bone quality can be targeted to identify beneficial therapeutics for IVDD.
    Language English
    Publishing date 2021-08-31
    Publishing country China
    Document type Journal Article
    ZDB-ID 2803313-9
    ISSN 2095-6231 ; 2095-4700
    ISSN (online) 2095-6231
    ISSN 2095-4700
    DOI 10.1038/s41413-021-00156-y
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Expansion of the phenotypic and mutational spectrum of Carpenter syndrome.

    Khairat, Rabab / Elhossini, Rasha / Sobreira, Nara / Wohler, Elizabeth / Otaify, Ghada / Mohamed, Amal M / Abdel Raouf, Ehab R / Sayed, Inas / Aglan, Mona / Ismail, Samira / Temtamy, Samia A

    European journal of medical genetics

    2021  Volume 65, Issue 1, Page(s) 104377

    Abstract: Carpenter syndrome 1 (CRPT1) is an acrocephalopolysyndactyly (ACPS) disorder characterized by craniosynostosis, polysyndactyly, obesity, and other malformations. It is caused by mutations in the gene RAB23. We are reporting on two patients from two ... ...

    Abstract Carpenter syndrome 1 (CRPT1) is an acrocephalopolysyndactyly (ACPS) disorder characterized by craniosynostosis, polysyndactyly, obesity, and other malformations. It is caused by mutations in the gene RAB23. We are reporting on two patients from two unrelated consanguineous Egyptian families. Patient 1 presented with an atypical clinical presentation of Carpenter syndrome including overgrowth with advanced bone age, epileptogenic changes on electroencephalogram and autistic features. Patient 2 presented with typical clinical features suggestive of Carpenter syndrome. Therefore, Patient 1 was subjected to whole exome sequencing (WES) to find an explanation for his unusual features and Patient 2 was subjected to Sanger sequencing of the coding exons of theRAB23 gene to confirm the diagnosis. We identified a novel homozygous missense RAB23 variant (NM_001278668:c.T416C:p.Leu139Pro) in Patient 1 and a novel homozygous splicing variant (NM_016277.5:c.398+1G > A) in Patient 2. We suggest that the overgrowth with advanced bone age, electroencephalogram epileptogenic changes, and autistic features seen in Patient 1 are an expansion of the Carpenter phenotype and could be due to the novel missense RAB23 variant. Additionally, the novel identified RAB23 variants in Patient 1 and 2 broaden the spectrum of variants associated with Carpenter syndrome.
    MeSH term(s) Acrocephalosyndactylia/genetics ; Child, Preschool ; Humans ; Male ; Mutation ; Phenotype ; Whole Exome Sequencing ; rab GTP-Binding Proteins/genetics
    Chemical Substances RAB23 protein, human (EC 3.6.1.-) ; rab GTP-Binding Proteins (EC 3.6.5.2)
    Language English
    Publishing date 2021-11-05
    Publishing country Netherlands
    Document type Case Reports ; Journal Article
    ZDB-ID 2184135-4
    ISSN 1878-0849 ; 1769-7212
    ISSN (online) 1878-0849
    ISSN 1769-7212
    DOI 10.1016/j.ejmg.2021.104377
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 84/9: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  10. Article ; Online: Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly.

    Horn, Denise / Fernández-Núñez, Elisa / Gomez-Carmona, Ricardo / Rivera-Barahona, Ana / Nevado, Julian / Schwartzmann, Sarina / Ehmke, Nadja / Lapunzina, Pablo / Otaify, Ghada A / Temtamy, Samia / Aglan, Mona / Boschann, Felix / Ruiz-Perez, Victor L

    Genetics in medicine : official journal of the American College of Medical Genetics

    2021  Volume 23, Issue 4, Page(s) 679–688

    Abstract: Purpose: This study aimed to identify the genetic cause of a new multiple congenital anomalies syndrome observed in three individuals from two unrelated families.: Methods: Clinical assessment was conducted prenatally and at different postnatal ... ...

    Abstract Purpose: This study aimed to identify the genetic cause of a new multiple congenital anomalies syndrome observed in three individuals from two unrelated families.
    Methods: Clinical assessment was conducted prenatally and at different postnatal stages. Genetic studies included exome sequencing (ES) combined with single-nucleotide polymorphism (SNP) array based homozygosity mapping and trio ES. Dermal fibroblasts were used for functional assays.
    Results: A clinically recognizable syndrome characterized by severe developmental delay, variable brain anomalies, congenital heart defects, dysmorphic facial features, and a distinctive type of synpolydactyly with an additional hypoplastic digit between the fourth and fifth digits of hands and/or feet was identified. Additional features included eye abnormalities, hearing impairment, and electroencephalogram anomalies. ES detected different homozygous truncating variants in MAPKAPK5 in both families. Patient-derived cells showed no expression of MAPKAPK5 protein isoforms and reduced levels of the MAPKAPK5-interacting protein ERK3. F-actin recovery after latrunculin B treatment was found to be less efficient in patient-derived fibroblasts than in control cells, supporting a role of MAPKAPK5 in F-actin polymerization.
    Conclusion: Our data indicate that loss-of-function variants in MAPKAPK5 result in a severe developmental disorder and reveal a major role of this gene in human brain, heart, and limb development.
    MeSH term(s) Child ; Developmental Disabilities/genetics ; Humans ; Intracellular Signaling Peptides and Proteins/genetics ; Phenotype ; Protein Serine-Threonine Kinases/genetics ; Syndactyly/genetics
    Chemical Substances Intracellular Signaling Peptides and Proteins ; MAP-kinase-activated kinase 5 (6YHG2VE3IX) ; Protein Serine-Threonine Kinases (EC 2.7.11.1)
    Language English
    Publishing date 2021-01-13
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1038/s41436-020-01052-2
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