Autor: "AlBalwi MA" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: Pro106Leu MPL mutation is associated with thrombocytosis and a low risk of thrombosis, splenomegaly and marrow fibrosis.
Autorzy:: Alzahrani M; Department of Medicine, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Al Turki S; Department of Pathology and Laboratory Medicine, Molecular Pathology Division, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, Riyadh, Saudi Arabia.
Al Rajban W; Department of Pathology and Laboratory Medicine, Molecular Pathology Division, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Alshalati F; Department of Medicine, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Almodaihsh F; Department of Pathology and Laboratory Medicine, Hematopathology Unit, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia.
Abuelgasim KA; King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, Riyadh, Saudi Arabia.; Division of Adult Hematology and Stem Cell Transplant, Department of Oncology, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Alahmari B; King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, Riyadh, Saudi Arabia.; Division of Adult Hematology and Stem Cell Transplant, Department of Oncology, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; Department of Oncology, Ministry of the National Guard Health Affairs, Riyadh, Saudi Arabia.
Al Bogami T; Department of Pathology and Laboratory Medicine, Hematopathology Unit, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia.
Ali O; King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, Riyadh, Saudi Arabia.; Division of Adult Hematology and Stem Cell Transplant, Department of Oncology, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Al Harbi T; Department of Pediatric Hematology and Oncology, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
AlBalwi MA; Department of Pathology and Laboratory Medicine, Molecular Pathology Division, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, Riyadh, Saudi Arabia.
Alotaibi M; Department of Pathology and Laboratory Medicine, Molecular Genetics Unit, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia.
Aleem A; Department of Medicine, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Al Asker A; King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, Riyadh, Saudi Arabia.; Division of Adult Hematology and Stem Cell Transplant, Department of Oncology, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Al Mugairi A; King Abdullah International Medical Research Center, Riyadh, Saudi Arabia.; Department of Pathology and Laboratory Medicine, Hematopathology Division, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; Pokaż więcej
Źródło:: Platelets [Platelets] 2022 Nov 17; Vol. 33 (8), pp. 1220-1227. Date of Electronic Publication: 2022 Jul 05.
Typ publikacji:: Journal Article
MeSH Terms:: Primary Myelofibrosis*/genetics
Primary Myelofibrosis*/pathology
Receptors, Thrombopoietin*/genetics
Thrombocytosis*/genetics
Thrombocytosis*/pathology
Thrombosis*/complications
Adult ; Bone Marrow/pathology ; Child ; Female ; Humans ; Male ; Mutation ; Retrospective Studies ; Splenomegaly/genetics

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Skocz do pozycji: 2.

Tytuł:: Ichthyosis Prematurity Syndrome: A Rare Form but Easily Recognizable Ichthyosis.
Autorzy:: Al-Khenaizan S; Division of Dermatology, Department of Pediatrics, King Abdulaziz Medical City, National Guard Health Affairs, Riyadh, Saudi Arabia.
AlSwailem A; Division of Dermatology, King Saud Medical City, Riyadh, Saudi Arabia.
AlBalwi MA; Department of Pathology and Laboratory Medicine, King Saud Bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; Pokaż więcej
Źródło:: Case reports in dermatology [Case Rep Dermatol] 2021 Sep 21; Vol. 13 (3), pp. 470-473. Date of Electronic Publication: 2021 Sep 21 (Print Publication: 2021).
Typ publikacji:: Case Reports

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Skocz do pozycji: 3.

Tytuł:: Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G.
Autorzy:: Al-Qattan MM; Division of Plastic Surgery, King Saud University, Riyadh, Saudi Arabia.; Division of Plastic Surgery, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
Hadadi A; King Saud bin Abdulaziz University for Health Sciences, College of Medicine, Riyadh, Saudi Arabia.
Al-Thunayan AM; Division of Plastic Surgery, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
Eldali AA; Division of Plastic Surgery, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
AlBalwi MA; King Saud bin Abdulaziz University for Health Sciences, College of Medicine, Riyadh, Saudi Arabia. .; Department of Pathology & Laboratory Medicine, MC1122, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, P.O Box 22490, Riyadh, 11426, Kingdom of Saudi Arabia. .; Department of Medical Genomics Research, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia. .; Pokaż więcej
Źródło:: BMC medical genetics [BMC Med Genet] 2018 Sep 04; Vol. 19 (1), pp. 158. Date of Electronic Publication: 2018 Sep 04.
Typ publikacji:: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Class I Phosphatidylinositol 3-Kinases/*genetics
Growth Disorders/*genetics
Mutation/*genetics
Upper Extremity/*growth & development
Upper Extremity Deformities, Congenital/*genetics
Abnormalities, Multiple/genetics ; Child ; Genetic Association Studies ; Humans ; Infant ; Lipoma/genetics ; Male ; Phenotype ; Syndrome

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Skocz do pozycji: 4.

Tytuł:: Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.
Autorzy:: Wang Z; Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, 108-8639, Japan.; McKusick-Zhang Center for Genetic Medicine and State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100005, China.
Iida A; Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, 108-8639, Japan.
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.
Nishiguchi KM; Department of Advanced Ophthalmic Medicine, Tohoku University Graduate School of Medicine, Sendai, 980-8574, Japan.
Fujita K; Department of Retinal Disease Control, Tohoku University Graduate School of Medicine, Sendai, 980-8574, Japan.
Nakazawa T; Department of Advanced Ophthalmic Medicine, Tohoku University Graduate School of Medicine, Sendai, 980-8574, Japan.; Department of Retinal Disease Control, Tohoku University Graduate School of Medicine, Sendai, 980-8574, Japan.; Department of Opthalmology, Tohoku University Graduate School of Medicine, Sendai, 980-8574, Japan.
Alswaid A; Department of Pediatrics, King Abdulaziz Medical City for National Guard Health Affairs, Riyadh, 22490, Saudi Arabia.
Albalwi MA; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, National Guard Health Affairs, Riyadh, 22490, Saudi Arabia.
Kim OH; Department of Radiology, Woorisoa Children's Hospital, Seoul, 08291, Republic of Korea.
Cho TJ; Department of Orthopaedic Surgery, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea.
Lim GY; Department of Radiology, St. Mary's Hospital, The Catholic University, Seoul, 07345, Republic of Korea.
Isidor B; CHU Nantes, Service de Génétique Médicale and INSERM, UMR-S 957, Nantes, 44093, France.
David A; CHU Nantes, Service de Génétique Médicale and INSERM, UMR-S 957, Nantes, 44093, France.
Rustad CF; Department of Medical Genetics, Section for Clinical Genetics, Oslo University Hospital, Oslo, 0424, Norway.
Merckoll E; Department of Radiology, Oslo University Hospital, Oslo, 0424, Norway.
Westvik J; Department of Radiology, Oslo University Hospital, Oslo, 0424, Norway.
Stattin EL; Department of Medical Biosciences, Medical and Clinical Genetics, Umeå University, Umeå, 90187, Sweden.
Grigelioniene G; Department of Clinical Genetics and Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital, Stockholm, 17176, Sweden.
Kou I; Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, 108-8639, Japan.
Nakajima M; Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, 108-8639, Japan.
Ohashi H; Division of Medical Genetics, Saitama Children's Medical Center, Saitama, 339-8551, Japan.
Smithson S; Department of Clinical Genetics, St. Michaels Hospital, Bristol, BS2 8EG, United Kingdom.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.
Nishimura G; Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Fuchu, 183-8561, Japan.
Ikegawa S; Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, 108-8639, Japan.; Pokaż więcej
Źródło:: PloS one [PLoS One] 2016 Mar 14; Vol. 11 (3), pp. e0150555. Date of Electronic Publication: 2016 Mar 14 (Print Publication: 2016).
Typ publikacji:: Journal Article
MeSH Terms:: Mutation*
Genetic Diseases, Inborn/*genetics
Osteochondrodysplasias/*genetics
Proteins/*genetics
Adolescent ; Cartilage/metabolism ; Cartilage/pathology ; Cell Differentiation/genetics ; Child ; Child, Preschool ; Cytoskeletal Proteins ; Female ; Gene Expression Regulation ; Genetic Diseases, Inborn/diagnostic imaging ; Genetic Diseases, Inborn/metabolism ; Humans ; Male ; Osteochondrodysplasias/diagnostic imaging ; Osteochondrodysplasias/metabolism ; Phenotype ; Proteins/metabolism ; Radiography ; Retina/metabolism ; Retina/pathology ; Young Adult
SCR Disease Name:: Strudwick syndrome

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