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4. Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

Author

Škorić-Milosavljević, Doris, Lahrouchi, Najim, Bosada, Fernanda M., Dombrowsky, Gregor, Williams, Simon G., Lesurf, Robert, Tjong, Fleur V.Y., Walsh, Roddy, El Bouchikhi, Ihssane, Breckpot, Jeroen, Audain, Enrique, Ilgun, Aho, Beekman, Leander, Ratbi, Ilham, Strong, Alanna, Muenke, Maximilian, Heide, Solveig, Muir, Alison M., Hababa, Mariam, Cross, Laura, Zhou, Dihong, Pastinen, Tomi, Hitz, Marc-Phillip, Abdul-Khaliq, Hashim, Berger, Felix, Dähnert, Ingo, Dittrich, Sven, Uebing, Anselm, Stiller, Brigitte, Zackai, Elaine, Atmani, Samir, Ouldim, Karim, Adadi, Najlae, Steindl, Katharina, Rauch, Anita, Brook, David, Wilsdon, Anna, Kuipers, Irene, Blom, Nico A., Mulder, Barbara J., Mefford, Heather C., Keren, Boris, Joset, Pascal, Kruszka, Paul, Thiffault, Isabelle, Sheppard, Sarah E., Roberts, Amy, Lodder, Elisabeth M., Keavney, Bernard D., Clur, Sally-Ann B., Mital, Seema, Hitz, Marc-Philip, Christoffels, Vincent M., Postma, Alex V., and Bezzina, Connie R.

Published
2021
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6. RAS Mutations Predict Recurrence-Free Survival and Recurrence Patterns in Colon Cancer: A Unicenter Study in Morocco

Author

El Agy, Fatima, primary, El Bardai, Sanae, additional, Boukansa, Sara, additional, Bouguenouch, Laila, additional, Benbrahim, Zineb, additional, Mazaz, Khalid, additional, Benjelloun, El Bachir, additional, Ousadden, Abdelmalek, additional, Ouldim, Karim, additional, Ibrahimi, Sidi Adil, additional, and Chbani, Laila, additional

Published
2024
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8. A novel homozygous missense variant identified in the myosin VIIA motor domain of a Moroccan patient with usher syndrome.

Author

Ouarhache, Maryem, Kettani, Oussama, Fizazi, Khawla El, Bouguenouch, Laila, and Ouldim, Karim

Abstract

Background: Usher syndrome 1 (USH1) is the most severe subtype of Usher syndrome characterized by severe sensorineural hearing impairment, retinitis pigmentosa, and vestibular areflexia. USH1 is usually induced by variants in MYO7A, a gene that encodes the myosin-VIIa protein. Myosin-VIIA is effectively involved in intracellular molecular traffic essential for the proper function of the cochlea, the retinal photoreceptors, and the retinal pigmented epithelial cells. Methods and results: In this study, we report a new homozygous missense variant (NM_000260.4: c.1657 C > T p.(His553Tyr)) in MYO7A of a 28-year-old female with symptoms consistent with USH1. This variant, c.1657 C > T p.(His553Tyr) is positioned in the highly conserved myosin-VIIA motor domain. Previous studies showed that variants in this domain might disrupt the ability of the protein to bind to actin and thus cause the disorder. Conclusions: Our findings contribute to our understanding of the phenotypic and mutational spectrum of USH1 associated with autosomal recessive MYO7A variants and emphasize the important role of molecular testing in accurately diagnosing this syndrome. More advanced research is required to understand the functional effect of the identified variant and the genotype-phonotype correlations of MYO7A-related Usher syndrome 1. [ABSTRACT FROM AUTHOR]

Published
2024
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12. Initiation of the Pharmacogenetics of Capecitabine in Morocco

Author

Khalid Zouine, Meryem Abassi, Laila Bouguenouch, Ismail Mouhrach, Kettani Oussama, Souleimani Abdellah, Ouldim Karim, and Mellas Nawfel

Subjects
Cancer Research, Oncology, Molecular Medicine
Abstract

Introduction: The pharmacogenetics of anticancer drugs is of paramount importance in minimizing their side effects and increasing their efficacy. When applied to capecitabine, the result is that variation in patient responses has been largely linked to different genetic polymorphisms of dihydropyrimidine dehydrogenase (DPD), which explained in many cases, the onset of toxicity of this medication in patients. Failure of this enzyme is known to be responsible for a high incidence of serious or fatal side effects. In this study conducted on Moroccan patients under treatment with capecitabine at usual doses at the Fez University Hospital, the first in Africa and Morocco, we are looking for the presence of four variants of the DPD gene (DPYD): T486A on exon 5 (rs666523971), c.1679T> G (p.I560S; rs55886062; allele DPYD * 13) on exon 13, c.1905 + 1G> A (IVS14 + 1G> A; rs3918290; allele DPYD * 2A) on the splice site near exon 14 and the c.2846A> T mutation (p.D949V; rs67376798) on exon 22. We will therefore seek to establish the cause-and-effect relationship between this toxicity and the presence of these variants in his patients, which will allow us to avoid the dangerous prescription of capecitabine in patients carrying these polymorphisms. Methods: This prospective study is carried out at the Laboratory of Medical Genetics of the CHU Hassan II Fez and spread over a period of 3 years. Patient recruitment was carried out by the oncology department of CHU Hassan II-Fès. All recruited patients are treated with capecitabine. A total of 64 patients were tested. Blood samples (5 ml) were obtained from each one of them after their consent, and DNA was extracted. The study of these four polymorphisms was carried out by PCR sequencing. Results and Discussion: We have studied 64 patients taking capecitabine. Their median age was 50, and the mean age was 50 and 79, with extremes of 25 and 78 years. The sex ratio F / M was 0,60. Different levels of toxicity have been developed in patients ranging from simple vomiting to IVdegree hand and foot syndrome and second-degree neuropathy involving total discontinuation of treatment. These mutations were not found in the patients. Thus it would be interesting to enlarge the sample size, look for these polymorphisms and others on other exons of the DPYD gene, and try to understand the cause of this increased incidence of capecitabine toxicity in the Moroccan population. Conclusion: Capecitabine-based chemotherapy caused adverse effects with varying levels in its patients. The SNPs on the DPYD gene sought were not found in this Moroccan sample. It is desirable to screen more patients and to search for other SNPs to understand the toxicity of capecitabine in relation to the DPYD gene. This will make it possible to adjust the dosage of this drug, increase its effectiveness and minimize its toxicity.

Published
2022

19. Review of prostate cancer genomic studies in Africa

Author

Samtal, Chaimae, primary, El Jaddaoui, Islam, additional, Hamdi, Salsabil, additional, Bouguenouch, Laila, additional, Ouldim, Karim, additional, Nejjari, Chakib, additional, Ghazal, Hassan, additional, and Bekkari, Hicham, additional

Published
2022
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21. Molecular Diagnosis of Primary Hyperoxaluria Type 1 and Distal Renal Tubular Acidosis in Moroccan Patients With Nephrolithiasis and/or Nephrocalcinosis

Author

Abdouss Fatima, Ahakoud Mohamed, Hida Moustapha, and Ouldim Karim

Subjects
General Engineering
Abstract

Nephrolithiasis (NL) and urolithiasis (UL) are usual reasons for hospitalization and presentation in pediatric outpatient departments and their incidence continues to rise worldwide. In Morocco, a previous epidemiological study done in the Fez region between January 2003 and November 2013 reported a prevalence of 0.83% of childhood UL. In two studies, heritability accounted for almost half of all NL or nephrocalcinosis (NC) prevalence. Genetic factors must be considered in the etiological diagnosis of urinary lithiasis in Morocco since the frequency of consanguineous marriages is high. Hereditary tubular disorders, especially distal renal tubular acidosis (dRTA) and Dent disease, and metabolic disorders like idiopathic hypercalciuria and hyperoxaluria are the most common causes of medullary NC. Primary hyperoxaluria type 1 (PH1), which can generate an early onset of NC, and often chronic kidney disease (CKD) should always be considered and thoroughly diagnosed. The aim of this work was to establish a molecular diagnosis of PH1 and dRTA and, thus, to predict and explain the disease phenotype in a cohort of 44 Moroccan patients with NL and/or NC by analyzing the

Published
2022

22. Dietary Fat Intake and KRAS Mutations in Colorectal Cancer in a Moroccan Population

Author

El Asri, Achraf, Ouldim, Karim, Bouguenouch, Laila, Sekal, Mohammed, Moufid, Fatima Zahra, Kampman, Ellen, Huybrechts, Inge, Gunter, Marc J., Abbaoui, Sanae, Znati, Kaoutar, Karkouri, Mehdi, El Kinany, Khaoula, Hatime, Zineb, Deoula, Meimouna Mint Sidi, Chbani, Laila, Zarrouq, Btissame, El Rhazi, Karima, El Asri, Achraf, Ouldim, Karim, Bouguenouch, Laila, Sekal, Mohammed, Moufid, Fatima Zahra, Kampman, Ellen, Huybrechts, Inge, Gunter, Marc J., Abbaoui, Sanae, Znati, Kaoutar, Karkouri, Mehdi, El Kinany, Khaoula, Hatime, Zineb, Deoula, Meimouna Mint Sidi, Chbani, Laila, Zarrouq, Btissame, and El Rhazi, Karima

Abstract

Epidemiologic data support an association between diet and mutations in the Kirsten-ras (KRAS) gene involved in colorectal cancer (CRC) development. This study aimed to explore the associations between fat intake and KRAS mutations in codons 12 and 13 in cases of CRC in the Moroccan population. A multicenter case-series study nested in a large-scale Moroccan CRC case-control study was conducted. Among all CRC cases recruited, 151 specimens were available for the DNA mutation analysis. Logistic regression was used to calculate odds ratios (ORs) and 95% confidence intervals (Cis) for KRAS mutation status according to the fat intake variables. A KRAS mutation was detected in the CRC tumor of 34.4% of the patients among whom 65.4% had a single mutation at codon 12 and 34.6% had a single mutation at codon 13. Compared to low levels of consumption, a positive association was observed between high polyunsaturated fatty acids (PUFA) consumption (>16.9 g/day) and prevalence of KRAS mutations (OR = 2.15, 95% CI = 1.01–4.59). No statistically significant associations were observed for total fat, monounsaturated fatty acids, saturated fatty acids and KRAS mutations. The results of this study suggest that PUFA may be relevant in the etiology of CRC, possibly through the generation of G > A transitions at the KRAS oncogene. Further studies are needed to verify and explain this finding.

Published
2022

23. Noonan syndrome in diverse populations

Author

Kruszka, Paul, Porras, Antonio R., Addissie, Yonit A., Moresco, Angélica, Medrano, Sofia, Mok, Gary T. K., Leung, Gordon K. C., Tekendo‐Ngongang, Cedrik, Uwineza, Annette, Thong, Meow‐Keong, Muthukumarasamy, Premala, Honey, Engela, Ekure, Ekanem N., Sokunbi, Ogochukwu J., Kalu, Nnenna, Jones, Kelly L., Kaplan, Julie D., Abdul‐Rahman, Omar A., Vincent, Lisa M., Love, Amber, Belhassan, Khadija, Ouldim, Karim, El Bouchikhi, Ihssane, Shukla, Anju, Girisha, Katta M., Patil, Siddaramappa J., Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Mishra, Rupesh, Klein‐Zighelboim, Eva, Gallardo Jugo, Bertha E., Chávez Pastor, Miguel, Abarca‐Barriga, Hugo H., Skinner, Steven A., Prijoles, Eloise J., Badoe, Eben, Gill, Ashleigh D., Shotelersuk, Vorasuk, Smpokou, Patroula, Kisling, Monisha S., Ferreira, Carlos R., Mutesa, Leon, Megarbane, Andre, Kline, Antonie D., Kimball, Amy, Okello, Emmy, Lwabi, Peter, Aliku, Twalib, Tenywa, Emmanuel, Boonchooduang, Nonglak, Tanpaiboon, Pranoot, Richieri‐Costa, Antonio, Wonkam, Ambroise, Chung, Brian H. Y., Stevenson, Roger E., Summar, Marshall, Mandal, Kausik, Phadke, Shubha R., Obregon, María G., Linguraru, Marius G., and Muenke, Maximilian

Published
2017
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24. Cover Image, Volume 173A, Number 9, September 2017

Author

Kruszka, Paul, Porras, Antonio R., Addissie, Yonit A., Moresco, Angélica, Medrano, Sofia, Mok, Gary T. K., Leung, Gordon K. C., Tekendo‐Ngongang, Cedrik, Uwineza, Annette, Thong, Meow‐Keong, Muthukumarasamy, Premala, Honey, Engela, Ekure, Ekanem N., Sokunbi, Ogochukwu J., Kalu, Nnenna, Jones, Kelly L., Kaplan, Julie D., Abdul‐Rahman, Omar A., Vincent, Lisa M., Love, Amber, Belhassan, Khadija, Ouldim, Karim, El Bouchikhi, Ihssane, Shukla, Anju, Girisha, Katta M., Patil, Siddaramappa J., Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Mishra, Rupesh, Klein‐Zighelboim, Eva, Gallardo Jugo, Bertha E., Chávez Pastor, Miguel, Abarca‐Barriga, Hugo H., Skinner, Steven A., Prijoles, Eloise J., Badoe, Eben, Gill, Ashleigh D., Shotelersuk, Vorasuk, Smpokou, Patroula, Kisling, Monisha S., Ferreira, Carlos R., Mutesa, Leon, Megarbane, Andre, Kline, Antonie D., Kimball, Amy, Okello, Emmy, Lwabi, Peter, Aliku, Twalib, Tenywa, Emmanuel, Boonchooduang, Nonglak, Tanpaiboon, Pranoot, Richieri‐Costa, Antonio, Wonkam, Ambroise, Chung, Brian H. Y., Stevenson, Roger E., Summar, Marshall, Mandal, Kausik, Phadke, Shubha R., Obregon, María G., Linguraru, Marius G., and Muenke, Maximilian

Published
2017
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26. Dietary Fat Intake and KRAS Mutations in Colorectal Cancer in a Moroccan Population

Author

El Asri, Achraf, primary, Ouldim, Karim, additional, Bouguenouch, Laila, additional, Sekal, Mohammed, additional, Moufid, Fatima Zahra, additional, Kampman, Ellen, additional, Huybrechts, Inge, additional, Gunter, Marc J., additional, Abbaoui, Sanae, additional, Znati, Kaoutar, additional, Karkouri, Mehdi, additional, Kinany, Khaoula El, additional, Hatime, Zineb, additional, Deoula, Meimouna Mint Sidi, additional, Chbani, Laila, additional, Zarrouq, Btissame, additional, and El Rhazi, Karima, additional

Published
2022
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27. p.R138Q and p.R229Q Screening In NPHS2 Gene in a Moroccan Cohort with Steroid Resistant Nephrotic Syndrome

Author

ABDOUSS Fatima, AHAKOUD Mohamed, BOUGUENOUCH Laila, SOUILMI Fatima Zohra, and OULDIM Karim

Subjects
SRNS, NPHS2, p.R138Q, p.R229Q, FSGS
Abstract

Mutations in the NPHS2 gene encoding podocin are implicated in an autosomal-recessive form of nonsyndromic steroid-resistant nephrotic syndrome in both pediatric and adult patients. The p.R138Q (c.413G>A) mutation in exon 3 was the most prevalent mutation in European series. The p.R229Q (c.686G>A) variant in exon 5 is the first human variant discovered with a mutation-dependent pathogenicity. We aimed in this study to screen for the p.R138Q mutation and the p.R138Q variant in a Moroccan cohort with Steroid Resistant Nephrotic Syndrome.

Published
2021

28. Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot (Genetics in Medicine, (2021), 23, 10, (1952-1960), 10.1038/s41436-021-01212-y)

Author

Škorić-Milosavljević, Doris, Lahrouchi, Najim, Bosada, Fernanda M., Dombrowsky, Gregor, Williams, Simon G., Lesurf, Robert, Tjong, Fleur V. Y., Walsh, Roddy, el Bouchikhi, Ihssane, Breckpot, Jeroen, Audain, Enrique, Ilgun, Aho, Beekman, Leander, Ratbi, Ilham, Strong, Alanna, Muenke, Maximilian, Heide, Solveig, Muir, Alison M., Hababa, Mariam, Cross, Laura, Zhou, Dihong, Pastinen, Tomi, Hitz, Marc-Phillip, Abdul-Khaliq, Hashim, Berger, Felix, Dähnert, Ingo, Dittrich, Sven, Uebing, Anselm, Stiller, Brigitte, Zackai, Elaine, Atmani, Samir, Ouldim, Karim, Adadi, Najlae, Steindl, Katharina, Rauch, Anita, Brook, David, Wilsdon, Anna, Kuipers, Irene, Blom, Nico A., Mulder, Barbara J., Mefford, Heather C., Keren, Boris, Joset, Pascal, Kruszka, Paul, Thiffault, Isabelle, Lodder, Elisabeth M., Clur, Sally-Ann B., Christoffels, Vincent M., Postma, Alex V., Bezzina, Connie R., Cardiology, ACS - Heart failure & arrhythmias, Medical Biology, Amsterdam Cardiovascular Sciences, Paediatric Cardiology, APH - Methodology, APH - Quality of Care, APH - Aging & Later Life, APH - Personalized Medicine, Human Genetics, Amsterdam Reproduction & Development (AR&D), and ACS - Pulmonary hypertension & thrombosis

Abstract

Due to a processing error the author’s Doris Škorić-Milosavljević, Najim Lahrouchi, Alex V. Postma, Connie R. Bezzina were assigned to affiliation 38. However, affiliation 38 does not exist. In addition, the affiliations of Najim Lahrouchi, Elisabeth M. Lodder, and Connie R. Bezzina should be number 1 instead of number 2. The correct affiliation is Department of Clinical and Experimental Cardiology, Amsterdam University Medical Center, Amsterdam, The Netherlands. The original article has been corrected.

Published
2021

30. Molecular and clinical assessment of maturity-onset diabetes of the young revealed low mutational rate in Moroccan families

Author

Trhanint, Said, primary, Bouguenouch, Laila, additional, Abourazzak, Sana, additional, El Ouahabi, Hanan, additional, Latrech, Hanane, additional, Benyakhlef, Salma, additional, Bennani, Bahia, additional, El Bouchikhi, Ihssane, additional, Moufid, Fatima Zahra, additional, Ouldim, Karim, additional, El Ghadraoui, Lahsen, additional, and Maazouzi, Nadia, additional

Published
2021
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31. Cancer Omics in Africa: Present and Prospects

Author

El Jaddaoui, Islam, primary, Allali, Imane, additional, Sehli, Sofia, additional, Ouldim, Karim, additional, Hamdi, Salsabil, additional, Al Idrissi, Najib, additional, Nejjari, Chakib, additional, Amzazi, Saaïd, additional, Bakri, Youssef, additional, and Ghazal, Hassan, additional

Published
2020
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34. Analysis of Molecular Pretreated Tumor Profiles as Predictive Biomarkers of Therapeutic Response and Survival Outcomes after Neoadjuvant Therapy for Rectal Cancer in Moroccan Population

Author

El Otmani, Ihsane, primary, El Agy, Fatima, additional, El Baradai, Sanae, additional, Bouguenouch, Laila, additional, Lahmidani, Nada, additional, El Abkari, Mohammed, additional, Benajah, Dafr Allah, additional, Toughrai, Imane, additional, El Bouhaddouti, Hicham, additional, Mouaqit, Ouadii, additional, Ibn Majdoub Hassani, Karim, additional, Mazaz, Khalid, additional, Benjelloun, El Bachir, additional, Ousadden, Abdelmalek, additional, El Rhazi, Karima, additional, Bouhafa, Touria, additional, Benbrahim, Zineb, additional, Ouldim, Karim, additional, Ibrahimi, Sidi Adil, additional, Ait Taleb, Khalid, additional, and Chbani, Laila, additional

Published
2020
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35. Implication of Microsatellite Instability Pathway in Outcome of Colon Cancer in Moroccan Population

Author

El Agy, Fatima, primary, Otmani, Ihssane El, additional, Mazti, Asmae, additional, Lahmidani, Nada, additional, Oussaden, Abdelmalek, additional, El Abkari, Mohamed, additional, Benjelloun, El Bachir, additional, Moukit, Wadih, additional, El Bouhaddouti, Hicham, additional, Toughrai, Imane, additional, Hassani, Karim Ibn Majdoub, additional, Maazaz, Khalid, additional, Benbrahim, Zineb, additional, Mellas, Nawfal, additional, El Rhazi, Karima, additional, Ouldim, Karim, additional, El Bardai, Sanae, additional, Adil Ibrahimi, Sidhi, additional, Ait Taleb, Khalid, additional, Bennis, Sanae, additional, and Laila, Chbani, additional

Published
2019
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36. Absence of GATA4 Mutations in Moroccan Patients with Atrial Septal Defect (ASD) Provides Further Evidence of Limited Involvement of GATA4 in Major Congenital Heart Defects.

Author

El Bouchikhi, Ihssane, Bouguenouch, Laila, Moufid, Fatima Zohra, Belhassan, Khadija, Samri, Imane, Chaouti, Amal, Houssaïni, Mohammed Iraqui, Atmani, Samir, and Ouldim, Karim

Subjects
DNA analysis, ALGORITHMS, ATRIAL septal defects, CONGENITAL heart disease, LONGITUDINAL method, GENETIC mutation, POLYMERASE chain reaction, TETRALOGY of Fallot, TRANSCRIPTION factors, GENETIC testing, DATA analysis software, DESCRIPTIVE statistics, SEQUENCE analysis
Abstract

Objective: Atrial septal defect (ASD) is one of the most common types of congenital heart disease (CHD). It is mainly caused by mutations of NK2 homeobox 5, GATA binding protein 4 (GATA4), and myosin heavy chain 6 in non-syndromic cases. This study aims to carry out, for the first time, the GATA4 mutation screening in a Moroccan population affected by ASD and compare the obtained mutation rate across populations. Materials and Methods: A total of 33 patients were enrolled in this study. DNAs were extracted from peripheral blood samples, and we performed PCR-sequencing for GATA4 coding regions. Sequences were analyzed by sequence alignment and functional impact prediction tools. Mutation rate comparisons were performed by R software using the appropriate statistical tests. Results: We detected 7 variants, but no pathogenic mutation was revealed, except for Asn352= that was assessed by human splicing finder algorithms to have a potential impairing effect on the splicing mechanism. Until proven by in vitro functional studies, the current pathogenic mutation rate in our cohort seems to be 0%. Statistical comparison with previous studies from all over the world shows no significant difference. Seemingly, comparison of previous GATA4 mutation rates among tetralogy of Fallot (TOF) populations shows no significant difference. Conclusion: The low rates of GATA4 mutations observed throughout ASD and TOF international populations may suggest a limited causality of GATA4 mutations in the main CHDs, which further confirms the co-involvement of additional genetic and/or environmental factors in the manifestation of these phenotypes. [ABSTRACT FROM AUTHOR]

Published
2020
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37. Empowering newborn screening programs in African countries through establishment of an international collaborative effort.

Author

Therrell, Bradford L., Lloyd-Puryear, Michele A., Ohene-Frempong, Kwaku, Ware, Russell E., Padilla, Carmencita D., Ambrose, Emmanuela E., Barkat, Amina, Ghazal, Hassan, Kiyaga, Charles, Mvalo, Tisungane, Nnodu, Obiageli, Ouldim, Karim, Rahimy, Mohamed Chérif, Santos, Brígida, Tshilolo, Léon, Yusuf, Careema, Zarbalian, Guisou, and Watson, Michael S.

Abstract

In an effort to explore new knowledge and to develop meaningful collaborations for improving child health, the First Pan African Workshop on Newborn Screening was convened in June 2019 in Rabat, Morocco. Participants included an informal network of newborn screening stakeholders from across Africa and global experts in newborn screening and sickle cell disease. Over 150 attendees, representing 20 countries, were present including 11 African countries. The agenda focused on newborn screening rationale, techniques, system development, implementation barriers, ongoing research, and collaborations both globally and across Africa. We provide an overview of the workshop and a description of the newborn screening activities in the 11 African countries represented at the workshop, with a focus on sickle cell disease. [ABSTRACT FROM AUTHOR]

Published
2020
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40. Cover Image, Volume 176A, Number 5, May 2018

Author

Kruszka, Paul, primary, Porras, Antonio R., additional, de Souza, Deise Helena, additional, Moresco, Angélica, additional, Huckstadt, Victoria, additional, Gill, Ashleigh D., additional, Boyle, Alec P., additional, Hu, Tommy, additional, Addissie, Yonit A., additional, Mok, Gary T. K., additional, Tekendo‐Ngongang, Cedrik, additional, Fieggen, Karen, additional, Prijoles, Eloise J., additional, Tanpaiboon, Pranoot, additional, Honey, Engela, additional, Luk, Ho‐Ming, additional, Lo, Ivan F. M., additional, Thong, Meow‐Keong, additional, Muthukumarasamy, Premala, additional, Jones, Kelly L., additional, Belhassan, Khadija, additional, Ouldim, Karim, additional, El Bouchikhi, Ihssane, additional, Bouguenouch, Laila, additional, Shukla, Anju, additional, Girisha, Katta M., additional, Sirisena, Nirmala D., additional, Dissanayake, Vajira H. W., additional, Paththinige, C. Sampath, additional, Mishra, Rupesh, additional, Kisling, Monisha S., additional, Ferreira, Carlos R., additional, de Herreros, María Beatriz, additional, Lee, Ni‐Chung, additional, Jamuar, Saumya S., additional, Lai, Angeline, additional, Tan, Ee Shien, additional, Ying Lim, Jiin, additional, Wen‐Min, Cham Breana, additional, Gupta, Neerja, additional, Lotz‐Esquivel, Stephanie, additional, Badilla‐Porras, Ramsés, additional, Hussen, Dalia Farouk, additional, El Ruby, Mona O., additional, Ashaat, Engy A., additional, Patil, Siddaramappa J., additional, Dowsett, Leah, additional, Eaton, Alison, additional, Innes, A. Micheil, additional, Shotelersuk, Vorasuk, additional, Badoe, Ëben, additional, Wonkam, Ambroise, additional, Obregon, María Gabriela, additional, Chung, Brian H. Y., additional, Trubnykova, Milana, additional, La Serna, Jorge, additional, Gallardo Jugo, Bertha Elena, additional, Chávez Pastor, Miguel, additional, Abarca Barriga, Hugo Hernán, additional, Megarbane, Andre, additional, Kozel, Beth A., additional, van Haelst, Mieke M., additional, Stevenson, Roger E., additional, Summar, Marshall, additional, Adeyemo, A. Adebowale, additional, Morris, Colleen A., additional, Moretti‐Ferreira, Danilo, additional, Linguraru, Marius George, additional, and Muenke, Maximilian, additional

Published
2018
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41. Williams–Beuren syndrome in diverse populations

Author

Kruszka, Paul, primary, Porras, Antonio R., additional, de Souza, Deise Helena, additional, Moresco, Angélica, additional, Huckstadt, Victoria, additional, Gill, Ashleigh D., additional, Boyle, Alec P., additional, Hu, Tommy, additional, Addissie, Yonit A., additional, Mok, Gary T. K., additional, Tekendo‐Ngongang, Cedrik, additional, Fieggen, Karen, additional, Prijoles, Eloise J., additional, Tanpaiboon, Pranoot, additional, Honey, Engela, additional, Luk, Ho‐Ming, additional, Lo, Ivan F. M., additional, Thong, Meow‐Keong, additional, Muthukumarasamy, Premala, additional, Jones, Kelly L., additional, Belhassan, Khadija, additional, Ouldim, Karim, additional, El Bouchikhi, Ihssane, additional, Bouguenouch, Laila, additional, Shukla, Anju, additional, Girisha, Katta M., additional, Sirisena, Nirmala D., additional, Dissanayake, Vajira H. W., additional, Paththinige, C. Sampath, additional, Mishra, Rupesh, additional, Kisling, Monisha S., additional, Ferreira, Carlos R., additional, de Herreros, María Beatriz, additional, Lee, Ni‐Chung, additional, Jamuar, Saumya S., additional, Lai, Angeline, additional, Tan, Ee Shien, additional, Ying Lim, Jiin, additional, Wen‐Min, Cham Breana, additional, Gupta, Neerja, additional, Lotz‐Esquivel, Stephanie, additional, Badilla‐Porras, Ramsés, additional, Hussen, Dalia Farouk, additional, El Ruby, Mona O., additional, Ashaat, Engy A., additional, Patil, Siddaramappa J., additional, Dowsett, Leah, additional, Eaton, Alison, additional, Innes, A. Micheil, additional, Shotelersuk, Vorasuk, additional, Badoe, Ëben, additional, Wonkam, Ambroise, additional, Obregon, María Gabriela, additional, Chung, Brian H. Y., additional, Trubnykova, Milana, additional, La Serna, Jorge, additional, Gallardo Jugo, Bertha Elena, additional, Chávez Pastor, Miguel, additional, Abarca Barriga, Hugo Hernán, additional, Megarbane, Andre, additional, Kozel, Beth A., additional, van Haelst, Mieke M., additional, Stevenson, Roger E., additional, Summar, Marshall, additional, Adeyemo, A. Adebowale, additional, Morris, Colleen A., additional, Moretti‐Ferreira, Danilo, additional, Linguraru, Marius George, additional, and Muenke, Maximilian, additional

Published
2018
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42. Tetrasomy 15q11-q13 diagnosed by FISH in a patient with autistic disorder

Author

Ouldim, Karim, Natiq, Abdelhafid, Jonveaux, Philippe, and Sefiani, Abdelaziz

Subjects
Diagnosis, Case studies, Methods, In situ hybridization -- Case studies -- Methods, Genetic disorders -- Diagnosis -- Case studies -- Methods
Abstract

We report the case of a Moroccan boy with mental retardation, hyperactivity, epilepsy, developmental problems and behavioural disorders. Cytogenetic analysis showed the presence of a supernumerary marker chromosome. Molecular cytogenetics [...]

Published
2007

44. High frequency of the recurrent c.1310_1313delAAGA BRCA2 mutation in the North-East of Morocco and implication for hereditary breast–ovarian cancer prevention and control

Author

Laarabi, Fatima-Zahra, primary, Ratbi, Ilham, additional, Elalaoui, Siham Chafai, additional, Mezzouar, Loubna, additional, Doubaj, Yassamine, additional, Bouguenouch, Laila, additional, Ouldim, Karim, additional, Benjaafar, Noureddine, additional, and Sefiani, Abdelaziz, additional

Published
2017
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45. Anémie de fanconi au CHU Hassan II Fès: à propos de 6 observations

Author

Bouguenouch, Laila, primary, Samri, Imane, additional, Abbassi, Meryem, additional, Hamdaoui, Hasna, additional, El Otmani, Ihssane, additional, Sayel, Hanane, additional, Trhanint, Said, additional, Benmiloud, Sara, additional, Amrani, Moncif, additional, Bennis, Sanae, additional, Ouldim, Karim, additional, and Hida, Mustapha, additional

Published
2017
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