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Search life-sciences literature (45,104,145 articles, preprints and more)

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Arab founder variants: Contributions to clinical genomics and precision medicine.
AlAbdi L, Maddirevula S, Aljamal B, Hamid H, Almulhim A, Hashem MO, Algoos Y, Alqahtani M, Albaloshi S, Alghamdi M, Alduaylij M, Shamseldin HE, Nadeef S, Patel N, Abdulwahab F, Abouyousef O, Alshidi T, Jaafar A, Abouelhoda M, [...] Alkuraya FS
Med, S2666-6340(24)00403-3, 01 Nov 2024
Cited by: 0 articles | PMID: 39504961
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Amniotic membrane graft for persistent macular hole following retinal detachment repair in Knobloch syndrome.
Almasri KG, Khan AO, Ghazi NG
J AAPOS, 104017, 10 Oct 2024
Cited by: 0 articles | PMID: 39393775
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THE GENETIC BASIS OF CLINICALLY SUSPECTED ACHROMATOPSIA IN THE UNITED ARAB EMIRATES.
Khan AO
Retina, 44(11):2019-2025, 01 Nov 2024
Cited by: 0 articles | PMID: 39024658
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A proinflammatory stem cell niche drives myelofibrosis through a targetable galectin-1 axis.
Li R, Colombo M, Wang G, Rodriguez-Romera A, Benlabiod C, Jooss NJ, O'Sullivan J, Brierley CK, Clark SA, Pérez Sáez JM, Fernández PA, Schoof EM, Porse B, Meng Y, Khan AO, Wen S, Dong P, Zhou W, Sousos N, [...] Psaila B
Sci Transl Med, 16(768):eadj7552, 09 Oct 2024
Cited by: 1 article | PMID: 39383242 | PMCID: PMC7616771
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Paradoxical keratitis and dermatitis following adalimumab treatment.
Ghali N, Khan AO
J AAPOS, 28(5):103970, 14 Jul 2024
Cited by: 0 articles | PMID: 39002940
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KCNV2-associated retinopathy: genotype-phenotype correlations - KCNV2 study group report 3.
de Guimaraes TAC, Georgiou M, Robson AG, Fujinami K, Vincent A, Nasser F, Khateb S, Mahroo OA, Pontikos N, Vargas ME, Thiadens AAHJ, Carvalho ER, Nguyen XT, Arno G, Fujinami-Yokokawa Y, Liu X, Tsunoda K, Hayashi T, Jiménez-Rolando B, [...] Michaelides M
Br J Ophthalmol, 108(8):1137-1144, 23 Jul 2024
Cited by: 0 articles | PMID: 37852740 | PMCID: PMC11287651
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PITX2 deficiency leads to atrial mitochondrial dysfunction.
Reyat JS, Sommerfeld LC, O'Reilly M, Cardoso VR, Thiemann E, Khan AO, O'Shea C, Harder S, Müller C, Barlow J, Stapley RJ, Chua W, Kabir SN, Grech O, Hummel O, Hübner N, Kääb S, Mont L, Hatem SN, [...] Fabritz L
Cardiovasc Res, cvae169, 12 Aug 2024
Cited by: 0 articles | PMID: 39129206
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Usher syndrome in the United Arab Emirates.
Khan AO
Ophthalmic Genet, 1-5, 17 Jul 2024
Cited by: 0 articles | PMID: 39016003
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Biallelic occult macular dystrophy.
Ghali N, Khan AO
Ophthalmic Genet, 45(4):401-403, 04 Jun 2024
Cited by: 0 articles | PMID: 38831741
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Generating human bone marrow organoids for disease modeling and drug discovery.
Olijnik AA, Rodriguez-Romera A, Wong ZC, Shen Y, Reyat JS, Jooss NJ, Rayes J, Psaila B, Khan AO
Nat Protoc, 19(7):2117-2146, 26 Mar 2024
Cited by: 2 articles | PMID: 38532070
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A founder variant expands the phenotype of WNT7B-related PDAC syndrome.
AlAbdi L, Rahbeeni Z, Maddirevula S, Helaby R, Abdulwahab F, Khan AO, Riley LG, Alhashem A, Chassaing N, Jamieson RV, Alkuraya FS
Clin Genet, 106(1):66-71, 28 Feb 2024
Cited by: 0 articles | PMID: 38417950
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The bone marrow is the primary site of thrombopoiesis.
Asquith NL, Carminita E, Camacho V, Rodriguez-Romera A, Stegner D, Freire D, Becker IC, Machlus KR, Khan AO, Italiano JE
Blood, 143(3):272-278, 01 Jan 2024
Cited by: 4 articles | PMID: 37879046
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Real-World Safety and Effectiveness of Voretigene Neparvovec: Results up to 2 Years from the Prospective, Registry-Based PERCEIVE Study.
Fischer MD, Simonelli F, Sahni J, Holz FG, Maier R, Fasser C, Suhner A, Stiehl DP, Chen B, Audo I, Leroy BP, PERCEIVE Study Group
Biomolecules, 14(1):122, 17 Jan 2024
Cited by: 6 articles | PMID: 38254722 | PMCID: PMC10813228
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Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.
AlAbdi L, Shamseldin HE, Khouj E, Helaby R, Aljamal B, Alqahtani M, Almulhim A, Hamid H, Hashem MO, Abdulwahab F, Abouyousef O, Jaafar A, Alshidi T, Al-Owain M, Alhashem A, Al Tala S, Khan AO, Mardawi E, Alkuraya H, [...] Alkuraya FS
Genome Med, 15(1):114, 14 Dec 2023
Cited by: 7 articles | PMID: 38098057 | PMCID: PMC10720148
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Full-field electroretinography - when do we need it?
Khan AO
Saudi J Ophthalmol, 37(4):263-268, 24 Oct 2023
Cited by: 1 article | PMID: 38155681 | PMCID: PMC10752284
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Presumed uremic optic neuropathy in a patient with Senior-Loken syndrome.
Khan AO
Saudi J Ophthalmol, 37(4):310-312, 24 Oct 2023
Cited by: 1 article | PMID: 38155683 | PMCID: PMC10752282
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Potential ASPH -Related Ectopia Lentis.
Khan AO
J Neuroophthalmol, 44(2):283-284, 12 Oct 2023
Cited by: 0 articles | PMID: 37824266
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Inherited retinal diseases and gene therapy update.
Khan AO
Saudi J Ophthalmol, 37(4):261-262, 01 Oct 2023
Cited by: 0 articles | PMID: 38155682 | PMCID: PMC10752280
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ADAMTS18-related anterior segment dysgenesis mistaken as Axenfeld-Rieger syndrome.
Khan AO
Taiwan J Ophthalmol, 13(4):540-542, 09 Aug 2023
Cited by: 0 articles | PMID: 38249507 | PMCID: PMC10798388
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Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L, Maddirevula S, Shamseldin HE, Khouj E, Helaby R, Hamid H, Almulhim A, Hashem MO, Abdulwahab F, Abouyousef O, Alqahtani M, Altuwaijri N, Jaafar A, Alshidi T, Alzahrani F, Mendeliome Group, Alkuraya FS
Nat Commun, 14(1):5269, 29 Aug 2023
Cited by: 4 articles | PMID: 37644014 | PMCID: PMC10465531
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A pro-inflammatory stem cell niche drives myelofibrosis through a targetable galectin 1 axis
Li R, Colombo M, Wang G, Rodriguez-Romera A, O’Sullivan J, Clark S, Pérez Sáez JM, Meng Y, Khan AO, Wen S, Dong P, Zhou W, Sousos N, Murphy L, Clarke M, Jooss NJ, Olijnik A, Wong ZC, Karali CS, [...] Psaila B
bioRxiv, 07 Aug 2023
Cited by: 0 articles | PPR: PPR703475
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Modelling the pathology and treatment of cardiac fibrosis in vascularised atrial and ventricular cardiac microtissues.
Reyat JS, di Maio A, Grygielska B, Pike J, Kemble S, Rodriguez-Romero A, Simoglou Karali C, Croft AP, Psaila B, Simões F, Rayes J, Khan AO
Front Cardiovasc Med, 10:1156759, 01 Sep 2023
Cited by: 2 articles | PMID: 37727305
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Efficient megakaryopoiesis and platelet production require phospholipid remodeling and PUFA uptake through CD36.
Barrachina MN, Pernes G, Becker IC, Allaeys I, Hirsch TI, Groeneveld DJ, Khan AO, Freire D, Guo K, Carminita E, Morgan PK, Collins TJC, Mellett NA, Wei Z, Almazni I, Italiano JE, Luyendyk J, Meikle PJ, Puder M, [...] Machlus KR
Nat Cardiovasc Res, 2(8):746-763, 17 Jul 2023
Cited by: 1 article | PMID: 39195958
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LEPREL1 -RELATED GIANT RETINAL TEAR DETACHMENTS MIMIC THE PHENOTYPE OF OCULAR STICKLER SYNDROME.
Magliyah MS, Almarek F, Nowilaty SR, Al-Abdi L, Alkuraya FS, Alowain M, Schatz P, Alfaadhel T, Khan AO, Alsulaiman SM
Retina, 43(3):498-505, 01 Mar 2023
Cited by: 1 article | PMID: 36729830
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The genomic landscape of rare disorders in the Middle East.
El Naofal M, Ramaswamy S, Alsarhan A, Nugud A, Sarfraz F, Janbaz H, Taylor A, Jain R, Halabi N, Yaslam S, Alfalasi R, Shenbagam S, Rabea F, Bitzan M, Yavuz L, Wafadari D, Abulhoul H, Shankar S, Al Maazmi M, [...] Abou Tayoun AN
Genome Med, 15(1):5, 27 Jan 2023
Cited by: 6 articles | PMID: 36703223 | PMCID: PMC9881316
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1-25 of 382 results

1 2 3 Next ...

Search life-sciences literature (45,104,145 articles, preprints and more)

Search results

Arab founder variants: Contributions to clinical genomics and precision medicine.

Amniotic membrane graft for persistent macular hole following retinal detachment repair in Knobloch syndrome.

THE GENETIC BASIS OF CLINICALLY SUSPECTED ACHROMATOPSIA IN THE UNITED ARAB EMIRATES.

A proinflammatory stem cell niche drives myelofibrosis through a targetable galectin-1 axis.

Paradoxical keratitis and dermatitis following adalimumab treatment.

KCNV2-associated retinopathy: genotype-phenotype correlations - KCNV2 study group report 3.

PITX2 deficiency leads to atrial mitochondrial dysfunction.

Usher syndrome in the United Arab Emirates.

Biallelic occult macular dystrophy.

Generating human bone marrow organoids for disease modeling and drug discovery.

A founder variant expands the phenotype of WNT7B-related PDAC syndrome.

The bone marrow is the primary site of thrombopoiesis.

Real-World Safety and Effectiveness of Voretigene Neparvovec: Results up to 2 Years from the Prospective, Registry-Based PERCEIVE Study.

Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.

Full-field electroretinography - when do we need it?

Presumed uremic optic neuropathy in a patient with Senior-Loken syndrome.

Potential ASPH -Related Ectopia Lentis.

Inherited retinal diseases and gene therapy update.

ADAMTS18-related anterior segment dysgenesis mistaken as Axenfeld-Rieger syndrome.

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

A pro-inflammatory stem cell niche drives myelofibrosis through a targetable galectin 1 axis

Modelling the pathology and treatment of cardiac fibrosis in vascularised atrial and ventricular cardiac microtissues.

Efficient megakaryopoiesis and platelet production require phospholipid remodeling and PUFA uptake through CD36.

LEPREL1 -RELATED GIANT RETINAL TEAR DETACHMENTS MIMIC THE PHENOTYPE OF OCULAR STICKLER SYNDROME.

The genomic landscape of rare disorders in the Middle East.

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