Marwan Shinawi, MD

Cobalamin F Disease Detected by Newborn Screening and Follow-up on a 14-Year-Old Patient.Oladipo O, Rosenblatt DS, Watkins D, Miousse IR, Sprietsma L, Dietzen DJ, Shinawi M.Pediatrics. 2011 Dec;128(6):e1636-40. Epub 2011 Nov 7.

PMID:

22065268

[PubMed - in process]

Related citationsRecurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG.Hum Mutat. 2012 Jan;33(1):165-79. doi: 10.1002/humu.21614. Epub 2011 Nov 2.

PMID:

21948486

[PubMed - in process]

Related citationsEarly-onset Hepatic Fibrosis in Lysinuric Protein Intolerance.Shinawi M, Dietzen DJ, White FV, Sprietsma L, Weymann A.J Pediatr Gastroenterol Nutr. 2011 Dec;53(6):695-8. No abstract available.

PMID:

21716135

[PubMed - in process]

Related citationsDesmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.Schaaf CP, Koster J, Katsonis P, Kratz L, Shchelochkov OA, Scaglia F, Kelley RI, Lichtarge O, Waterham HR, Shinawi M.Am J Med Genet A. 2011 Jul;155A(7):1597-604. doi: 10.1002/ajmg.a.34040. Epub 2011 Jun 10. Review.

PMID:

21671375

[PubMed - indexed for MEDLINE]

Related citations11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity.Shinawi M, Sahoo T, Maranda B, Skinner SA, Skinner C, Chinault C, Zascavage R, Peters SU, Patel A, Stevenson RE, Beaudet AL.Am J Med Genet A. 2011 Jun;155A(6):1272-80. doi: 10.1002/ajmg.a.33878. Epub 2011 May 12.

PMID:

21567907

[PubMed - indexed for MEDLINE]

Related citationsCopy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.Liu P, Erez A, Nagamani SC, Bi W, Carvalho CM, Simmons AD, Wiszniewska J, Fang P, Eng PA, Cooper ML, Sutton VR, Roeder ER, Bodensteiner JB, Delgado MR, Prakash SK, Belmont JW, Stankiewicz P, Berg JS, Shinawi M, Patel A, Cheung SW, Lupski JR.Hum Mol Genet. 2011 May 15;20(10):1975-88. Epub 2011 Feb 25.

PMID:

21355048

[PubMed - indexed for MEDLINE]

Related citationsLong-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome.Muenzer J, Beck M, Eng CM, Giugliani R, Harmatz P, Martin R, Ramaswami U, Vellodi A, Wraith JE, Cleary M, Gucsavas-Calikoglu M, Puga AC, Shinawi M, Ulbrich B, Vijayaraghavan S, Wendt S, Conway AM, Rossi A, Whiteman DA, Kimura A.Genet Med. 2011 Feb;13(2):95-101.

PMID:

21150784

[PubMed - indexed for MEDLINE]

Related citationsIncreased homocysteine in a patient diagnosed with Marfan syndrome.Oladipo O, Spreitsma L, Dietzen DJ, Shinawi M.Clin Chem. 2010 Nov;56(11):1665-8. No abstract available.

PMID:

21030686

[PubMed - indexed for MEDLINE]

Free ArticleRelated citationsExpanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia.Schaaf CP, Goin-Kochel RP, Nowell KP, Hunter JV, Aleck KA, Cox S, Patel A, Bacino CA, Shinawi M.Eur J Hum Genet. 2011 Feb;19(2):152-6. Epub 2010 Oct 20.

PMID:

20959866

[PubMed - indexed for MEDLINE]

Related citationsMcCune-Albright syndrome presenting with unilateral macroorchidism and bilateral testicular masses.Khanna G, Kantawala K, Shinawi M, Sarwate S, Dehner LP.Pediatr Radiol. 2010 Dec;40 Suppl 1:S16-20. Epub 2010 Jul 6.

PMID:

20607225

[PubMed - indexed for MEDLINE]

Related citationsMixed gonadal dysgenesis in a child with isodicentric Y chromosome: Does the relative proportion of the 45,X line really matter?Shinawi M, Cain MP, Vanderbrink BA, Grignon DJ, Mensing D, Cooper ML, Bader P, Cheung SW.Am J Med Genet A. 2010 Jul;152A(7):1832-7.

PMID:

20583182

[PubMed - indexed for MEDLINE]

Related citationsStructures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?Szafranski P, Schaaf CP, Person RE, Gibson IB, Xia Z, Mahadevan S, Wiszniewska J, Bacino CA, Lalani S, Potocki L, Kang SH, Patel A, Cheung SW, Probst FJ, Graham BH, Shinawi M, Beaudet AL, Stankiewicz P.Hum Mutat. 2010 Jul;31(7):840-50.

PMID:

20506139

[PubMed - indexed for MEDLINE]

Free PMC ArticleRelated citationsAutism Spectrum Disorders .Miles JH, McCathren RB, Stichter J, Shinawi M.In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.2003 Aug 27 [updated 2010 Apr 13].

PMID:

20301615

[PubMed]

Books & DocumentsRelated citationsProgressive myopathy with multiple symmetric lipomatosis.Brunetti-Pierri N, Shaibani A, Zhang S, Wong LJ, Shinawi M.Arch Neurol. 2009 Dec;66(12):1576-7. No abstract available.

PMID:

20008669

[PubMed - indexed for MEDLINE]

Related citationsRecurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, Kozel BA, Sparagana S, Roeder ER, McGrew SG, Kurczynski TW, Allison LJ, Amato S, Savage S, Patel A, Stankiewicz P, Beaudet AL, Cheung SW, Lupski JR.J Med Genet. 2010 May;47(5):332-41. Epub 2009 Nov 12.

PMID:

19914906

[PubMed - indexed for MEDLINE]

Free PMC ArticleRelated citationsA small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes.Shinawi M, Schaaf CP, Bhatt SS, Xia Z, Patel A, Cheung SW, Lanpher B, Nagl S, Herding HS, Nevinny-Stickel C, Immken LL, Patel GS, German JR, Beaudet AL, Stankiewicz P.Nat Genet. 2009 Dec;41(12):1269-71. Epub 2009 Nov 8.

PMID:

19898479

[PubMed - indexed for MEDLINE]

Free PMC ArticleRelated citationsMitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.Shaibani A, Shchelochkov OA, Zhang S, Katsonis P, Lichtarge O, Wong LJ, Shinawi M.Arch Neurol. 2009 Aug;66(8):1028-32.

PMID:

19667227

[PubMed - indexed for MEDLINE]

Free PMC ArticleRelated citationsMutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Couthard LR, Aeby A, Attard-Montalto SP, Bertini E, Bodemer C, Brockmann K, Brueton LA, Corry PC, Desguerre I, Fazzi E, Cazorla AG, Gener B, Hamel BC, Heiberg A, Hunter M, van der Knaap MS, Kumar R, Lagae L, Landrieu PG, Lourenco CM, Marom D, McDermott MF, van der Merwe W, Orcesi S, Prendiville JS, Rasmussen M, Shalev SA, Soler DM, Shinawi M, Spiegel R, Tan TY, Vanderver A, Wakeling EL, Wassmer E, Whittaker E, Lebon P, Stetson DB, Bonthron DT, Crow YJ.Nat Genet. 2009 Jul;41(7):829-32. Epub 2009 Jun 14.

PMID:

19525956

[PubMed - indexed for MEDLINE]

Related citationsThe MTHFR 677C-->T polymorphism and behaviors in children with autism: exploratory genotype-phenotype correlations.Goin-Kochel RP, Porter AE, Peters SU, Shinawi M, Sahoo T, Beaudet AL.Autism Res. 2009 Apr;2(2):98-108.

PMID:

19455642

[PubMed - indexed for MEDLINE]

Related citationsThe Xp contiguous deletion syndrome and autism.Shinawi M, Patel A, Panichkul P, Zascavage R, Peters SU, Scaglia F.Am J Med Genet A. 2009 Jun;149A(6):1138-48.

PMID:

19441126

[PubMed - indexed for MEDLINE]

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