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Items: 1 to 50 of 114

1.

Floating-Harbor Syndrome.

Nowaczyk MJM, Nikkel SM, White SM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2012 Nov 29 [updated 2019 May 23].

2.

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.

Pizzo L, Jensen M, Polyak A, Rosenfeld JA, Mannik K, Krishnan A, McCready E, Pichon O, Le Caignec C, Van Dijck A, Pope K, Voorhoeve E, Yoon J, Stankiewicz P, Cheung SW, Pazuchanics D, Huber E, Kumar V, Kember RL, Mari F, Curró A, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Mandarà L, Vincent M, Nizon M, Mercier S, Bénéteau C, Blesson S, Martin-Coignard D, Mosca-Boidron AL, Caberg JH, Bucan M, Zeesman S, Nowaczyk MJM, Lefebvre M, Faivre L, Callier P, Skinner C, Keren B, Perrine C, Prontera P, Marle N, Renieri A, Reymond A, Kooy RF, Isidor B, Schwartz C, Romano C, Sistermans E, Amor DJ, Andrieux J, Girirajan S.

Genet Med. 2019 Apr;21(4):816-825. doi: 10.1038/s41436-018-0266-3. Epub 2018 Sep 7.

3.

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.

Jobling R, Stavropoulos DJ, Marshall CR, Cytrynbaum C, Axford MM, Londero V, Moalem S, Orr J, Rossignol F, Lopes FD, Gauthier J, Alos N, Rupps R, McKinnon M, Adam S, Nowaczyk MJM, Walker S, Scherer SW, Nassif C, Hamdan FF, Deal CL, Soucy JF, Weksberg R, Macleod P, Michaud JL, Chitayat D.

J Med Genet. 2018 May;55(5):316-321. doi: 10.1136/jmedgenet-2017-105222. Epub 2018 Mar 29.

PMID:
29599419
4.

Normal IQ is possible in Smith-Lemli-Opitz syndrome.

Eroglu Y, Nguyen-Driver M, Steiner RD, Merkens L, Merkens M, Roullet JB, Elias E, Sarphare G, Porter FD, Li C, Tierney E, Nowaczyk MJ, Freeman KA.

Am J Med Genet A. 2017 Aug;173(8):2097-2100. doi: 10.1002/ajmg.a.38125. Epub 2017 Mar 27.

5.

Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.

Bagheri H, Badduke C, Qiao Y, Colnaghi R, Abramowicz I, Alcantara D, Dunham C, Wen J, Wildin RS, Nowaczyk MJ, Eichmeyer J, Lehman A, Maranda B, Martell S, Shan X, Lewis SM, O'Driscoll M, Gregory-Evans CY, Rajcan-Separovic E.

JCI Insight. 2016 Mar 17;1(3):e85461. doi: 10.1172/jci.insight.85461.

6.

A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene.

Nowaczyk MJ, Huang L, Tarnopolsky M, Schwartzentruber J, Majewski J, Bulman DE; FORGE Canada Consortium, Care4Rare Canada Consortium, Hartley T, Boycott KM.

Am J Med Genet A. 2017 Jan;173(1):126-134. doi: 10.1002/ajmg.a.37973. Epub 2016 Sep 15.

PMID:
27633801
7.

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression.

Lowther C, Speevak M, Armour CM, Goh ES, Graham GE, Li C, Zeesman S, Nowaczyk MJ, Schultz LA, Morra A, Nicolson R, Bikangaga P, Samdup D, Zaazou M, Boyd K, Jung JH, Siu V, Rajguru M, Goobie S, Tarnopolsky MA, Prasad C, Dick PT, Hussain AS, Walinga M, Reijenga RG, Gazzellone M, Lionel AC, Marshall CR, Scherer SW, Stavropoulos DJ, McCready E, Bassett AS.

Genet Med. 2017 Jan;19(1):53-61. doi: 10.1038/gim.2016.54. Epub 2016 May 19.

8.

The natural history of a clinical geneticist.

Nowaczyk MJ.

Am J Med Genet A. 2016 Oct;170(10):2591-3. doi: 10.1002/ajmg.a.37732. Epub 2016 May 9. No abstract available.

PMID:
27159370
9.

Partial monosomy 1q43 and partial trisomy 20q13.2: a case report.

Ho BS, McCready E, Nowaczyk MJ.

Clin Dysmorphol. 2016 Jul;25(3):128-32. doi: 10.1097/MCD.0000000000000125. No abstract available.

PMID:
27057655
10.

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

Bennett JT, Tan TY, Alcantara D, Tétrault M, Timms AE, Jensen D, Collins S, Nowaczyk MJM, Lindhurst MJ, Christensen KM, Braddock SR, Brandling-Bennett H, Hennekam RCM, Chung B, Lehman A, Su J, Ng S, Amor DJ; University of Washington Center for Mendelian Genomics; Care4Rare Canada Consortium, Majewski J, Biesecker LG, Boycott KM, Dobyns WB, O'Driscoll M, Moog U, McDonell LM.

Am J Hum Genet. 2016 Mar 3;98(3):579-587. doi: 10.1016/j.ajhg.2016.02.006.

11.

Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis.

Tan CA, Topper S, Del Gaudio D, Nelakuditi V, Shchelochkov O, Nowaczyk MJM, Zeesman S, Brady L, Russell L, Meeks N, Sastry S, Arndt K, Kobiernicki F, Shaw R, Das S.

Clin Genet. 2016 Apr;89(4):478-483. doi: 10.1111/cge.12575. Epub 2015 Mar 15.

PMID:
25693842
12.

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

Chong JX, McMillin MJ, Shively KM, Beck AE, Marvin CT, Armenteros JR, Buckingham KJ, Nkinsi NT, Boyle EA, Berry MN, Bocian M, Foulds N, Uzielli ML, Haldeman-Englert C, Hennekam RC, Kaplan P, Kline AD, Mercer CL, Nowaczyk MJ, Klein Wassink-Ruiter JS, McPherson EW, Moreno RA, Scheuerle AE, Shashi V, Stevens CA, Carey JC, Monteil A, Lory P, Tabor HK, Smith JD, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics, Bamshad MJ.

Am J Hum Genet. 2015 Mar 5;96(3):462-73. doi: 10.1016/j.ajhg.2015.01.003. Epub 2015 Feb 12.

13.

Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq.

Zeesman S, McCready E, Sadikovic B, Nowaczyk MJ.

Am J Med Genet A. 2015 Jan;167A(1):180-4. doi: 10.1002/ajmg.a.36790. Epub 2014 Oct 6.

PMID:
25287655
14.

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

De Rocker N, Vergult S, Koolen D, Jacobs E, Hoischen A, Zeesman S, Bang B, Béna F, Bockaert N, Bongers EM, de Ravel T, Devriendt K, Giglio S, Faivre L, Joss S, Maas S, Marle N, Novara F, Nowaczyk MJ, Peeters H, Polstra A, Roelens F, Rosenberg C, Thevenon J, Tümer Z, Vanhauwaert S, Varvagiannis K, Willaert A, Willemsen M, Willems M, Zuffardi O, Coucke P, Speleman F, Eichler EE, Kleefstra T, Menten B.

Genet Med. 2015 Jun;17(6):460-6. doi: 10.1038/gim.2014.124. Epub 2014 Sep 18.

PMID:
25232846
15.

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion Almeida L, Juncos J, Kempers M, Eker HK, Lacombe D, Lin A, Mancini G, Melis D, Lourenço CM, Siu VM, Morin G, Nezarati M, Nowaczyk MJ, Ramer JC, Osimani S, Philip N, Pierpont ME, Procaccio V, Roseli ZS, Rossi M, Rusu C, Sznajer Y, Templin L, Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A, Hoischen A, Drunat S, Rivière JB, Dobyns WB, Pilz DT.

Eur J Hum Genet. 2015 Mar;23(3):292-301. doi: 10.1038/ejhg.2014.95. Epub 2014 Jul 23.

16.

Fetal autopsy findings of cardiofaciocutaneous syndrome with a unique BRAF mutation.

Terry J, Rauen KA, Nowaczyk MJ.

Pediatr Dev Pathol. 2014 Jan-Feb;17(1):59-63. doi: 10.2350/13-08-1365-CR.1. Epub 2013 Dec 4.

PMID:
24303953
17.

SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.

Dauber A, Golzio C, Guenot C, Jodelka FM, Kibaek M, Kjaergaard S, Leheup B, Martinet D, Nowaczyk MJ, Rosenfeld JA, Zeesman S, Zunich J, Beckmann JS, Hirschhorn JN, Hastings ML, Jacquemont S, Katsanis N.

Am J Hum Genet. 2013 Nov 7;93(5):798-811. doi: 10.1016/j.ajhg.2013.09.010. Epub 2013 Oct 17. Erratum in: Am J Hum Genet. 2013 Nov 7;93(5):994.

18.

Narrative medicine: a call to pens.

Nowaczyk MJ, Carey JC.

Am J Med Genet A. 2013 Sep;161A(9):2117-8. doi: 10.1002/ajmg.a.36114. Epub 2013 Jul 29.

PMID:
23897693
19.

The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.

Curry CJ, Rosenfeld JA, Grant E, Gripp KW, Anderson C, Aylsworth AS, Saad TB, Chizhikov VV, Dybose G, Fagerberg C, Falco M, Fels C, Fichera M, Graakjaer J, Greco D, Hair J, Hopkins E, Huggins M, Ladda R, Li C, Moeschler J, Nowaczyk MJ, Ozmore JR, Reitano S, Romano C, Roos L, Schnur RE, Sell S, Suwannarat P, Svaneby D, Szybowska M, Tarnopolsky M, Tervo R, Tsai AC, Tucker M, Vallee S, Wheeler FC, Zand DJ, Barkovich AJ, Aradhya S, Shaffer LG, Dobyns WB.

Am J Med Genet A. 2013 Aug;161A(8):1833-52. doi: 10.1002/ajmg.a.35996. Epub 2013 Jun 27.

20.

Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44.

Wang D, Zeesman S, Tarnopolsky MA, Nowaczyk MJ.

Am J Med Genet A. 2013 Aug;161A(8):2016-9. doi: 10.1002/ajmg.a.35999. Epub 2013 Jun 21.

PMID:
23794269
21.

Smith-Lemli-Opitz Syndrome.

Nowaczyk MJM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
1998 Nov 13 [updated 2013 Jun 20].

22.

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.

Nikkel SM, Dauber A, de Munnik S, Connolly M, Hood RL, Caluseriu O, Hurst J, Kini U, Nowaczyk MJ, Afenjar A, Albrecht B, Allanson JE, Balestri P, Ben-Omran T, Brancati F, Cordeiro I, da Cunha BS, Delaney LA, Destrée A, Fitzpatrick D, Forzano F, Ghali N, Gillies G, Harwood K, Hendriks YM, Héron D, Hoischen A, Honey EM, Hoefsloot LH, Ibrahim J, Jacob CM, Kant SG, Kim CA, Kirk EP, Knoers NV, Lacombe D, Lee C, Lo IF, Lucas LS, Mari F, Mericq V, Moilanen JS, Møller ST, Moortgat S, Pilz DT, Pope K, Price S, Renieri A, Sá J, Schoots J, Silveira EL, Simon ME, Slavotinek A, Temple IK, van der Burgt I, de Vries BB, Weisfeld-Adams JD, Whiteford ML, Wierczorek D, Wit JM, Yee CF, Beaulieu CL; FORGE Canada Consortium, White SM, Bulman DE, Bongers E, Brunner H, Feingold M, Boycott KM.

Orphanet J Rare Dis. 2013 Apr 27;8:63. doi: 10.1186/1750-1172-8-63.

23.

Trisomy 22 mosaicism and normal developmental outcome: report of two patients and review of the literature.

Abdelgadir D, Nowaczyk MJ, Li C.

Am J Med Genet A. 2013 May;161A(5):1126-31. doi: 10.1002/ajmg.a.35812. Epub 2013 Mar 25. Review.

PMID:
23529842
24.

Further evidence that a 100 Kb critical region is responsible for developmental delay, seizures, and dysmorphic features in 1q43q44 deletion patients.

Speevak MD, Zeesman S, Leonard N, Nowaczyk MJ.

Am J Med Genet A. 2013 Apr;161A(4):913-5. doi: 10.1002/ajmg.a.35828. Epub 2013 Mar 12. No abstract available.

PMID:
23495039
25.

Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

Nowaczyk MJ, Thompson BA, Zeesman S, Moog U, Sanchez-Lara PA, Magoulas PL, Falk RE, Hoover-Fong JE, Batista DA, Amudhavalli SM, White SM, Graham GE, Rauen KA.

Clin Genet. 2014 Feb;85(2):138-46. doi: 10.1111/cge.12116. Epub 2013 Apr 2.

26.

Prenatal and pathologic features of aorto-left ventricular tunnel causing fetal hydrops and intrauterine demise.

Terry J, Tapas M, Nowaczyk MJ.

Pediatr Dev Pathol. 2013 Mar-Apr;16(2):97-101. doi: 10.2350/12-10-1264-CR.1. Epub 2013 Jan 3.

PMID:
23286355
27.

Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.

Nowaczyk MJ, Irons MB.

Am J Med Genet C Semin Med Genet. 2012 Nov 15;160C(4):250-62. doi: 10.1002/ajmg.c.31343. Epub 2012 Oct 11. Review.

PMID:
23059950
28.

Smith-Lemli-Opitz syndrome and other disorders of cholesterol biosynthesis: An introduction.

Nowaczyk MJ, Cunniff C.

Am J Med Genet C Semin Med Genet. 2012 Nov 15;160C(4):239-41. doi: 10.1002/ajmg.c.31344. Epub 2012 Oct 5.

PMID:
23042602
29.

SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo.

Baradaran-Heravi A, Raams A, Lubieniecka J, Cho KS, DeHaai KA, Basiratnia M, Mari PO, Xue Y, Rauth M, Olney AH, Shago M, Choi K, Weksberg RA, Nowaczyk MJ, Wang W, Jaspers NG, Boerkoel CF.

Am J Med Genet A. 2012 Sep;158A(9):2204-13. doi: 10.1002/ajmg.a.35532. Epub 2012 Aug 7.

30.

Microdeletion in distal 17p13.1: a recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability.

Zeesman S, Kjaergaard S, Hove HD, Kirchhoff M, Stevens JM, Nowaczyk MJ.

Am J Med Genet A. 2012 Aug;158A(8):1832-6. doi: 10.1002/ajmg.a.35508. Epub 2012 Jun 29.

PMID:
22753084
31.

Narrative medicine in clinical genetics practice.

Nowaczyk MJ.

Am J Med Genet A. 2012 Aug;158A(8):1941-7. doi: 10.1002/ajmg.a.35482. Epub 2012 Jun 29. Review.

PMID:
22753050
32.

Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 CdLS pregnancies.

Clark DM, Sherer I, Deardorff MA, Byrne JL, Loomes KM, Nowaczyk MJ, Jackson LG, Krantz ID.

Am J Med Genet A. 2012 Aug;158A(8):1848-56. doi: 10.1002/ajmg.a.35410. Epub 2012 Jun 27. Review.

33.

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.

Campbell IM, Yatsenko SA, Hixson P, Reimschisel T, Thomas M, Wilson W, Dayal U, Wheless JW, Crunk A, Curry C, Parkinson N, Fishman L, Riviello JJ, Nowaczyk MJ, Zeesman S, Rosenfeld JA, Bejjani BA, Shaffer LG, Cheung SW, Lupski JR, Stankiewicz P, Scaglia F.

Genet Med. 2012 Oct;14(10):868-76. doi: 10.1038/gim.2012.65. Epub 2012 Jun 21.

34.

Growth charts for individuals with Smith-Lemli-Opitz syndrome.

Lee RW, McGready J, Conley SK, Yanjanin NM, Nowaczyk MJ, Porter FD.

Am J Med Genet A. 2012 Nov;158A(11):2707-13. doi: 10.1002/ajmg.a.35376. Epub 2012 May 21.

35.

Germline mosaicism in Cornelia de Lange syndrome.

Slavin TP, Lazebnik N, Clark DM, Vengoechea J, Cohen L, Kaur M, Konczal L, Crowe CA, Corteville JE, Nowaczyk MJ, Byrne JL, Jackson LG, Krantz ID.

Am J Med Genet A. 2012 Jun;158A(6):1481-5. doi: 10.1002/ajmg.a.35381. Epub 2012 May 11.

36.

Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype.

Nowaczyk MJ, Tan M, Hamid JS, Allanson JE.

Am J Med Genet A. 2012 May;158A(5):1020-8. doi: 10.1002/ajmg.a.35285. Epub 2012 Mar 21.

PMID:
22438180
37.

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

Rivière JB, van Bon BW, Hoischen A, Kholmanskikh SS, O'Roak BJ, Gilissen C, Gijsen S, Sullivan CT, Christian SL, Abdul-Rahman OA, Atkin JF, Chassaing N, Drouin-Garraud V, Fry AE, Fryns JP, Gripp KW, Kempers M, Kleefstra T, Mancini GM, Nowaczyk MJ, van Ravenswaaij-Arts CM, Roscioli T, Marble M, Rosenfeld JA, Siu VM, de Vries BB, Shendure J, Verloes A, Veltman JA, Brunner HG, Ross ME, Pilz DT, Dobyns WB.

Nat Genet. 2012 Feb 26;44(4):440-4, S1-2. doi: 10.1038/ng.1091.

38.

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, Allanson J, Kim CA, Wieczorek D, Moilanen JS, Lacombe D, Gillessen-Kaesbach G, Whiteford ML, Quaio CR, Gomy I, Bertola DR, Albrecht B, Platzer K, McGillivray G, Zou R, McLeod DR, Chudley AE, Chodirker BN, Marcadier J; FORGE Canada Consortium, Majewski J, Bulman DE, White SM, Boycott KM.

Am J Hum Genet. 2012 Feb 10;90(2):308-13. doi: 10.1016/j.ajhg.2011.12.001. Epub 2012 Jan 19.

39.

Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44.

Nagamani SC, Erez A, Bay C, Pettigrew A, Lalani SR, Herman K, Graham BH, Nowaczyk MJ, Proud M, Craigen WJ, Hopkins B, Kozel B, Plunkett K, Hixson P, Stankiewicz P, Patel A, Cheung SW.

Eur J Hum Genet. 2012 Feb;20(2):176-9. doi: 10.1038/ejhg.2011.171. Epub 2011 Sep 21.

40.

Blepharophimosis-ptosis-epicanthus inversus syndrome plus: deletion 3q22.3q23 in a patient with characteristic facial features and with genital anomalies, spastic diplegia, and speech delay.

Zahanova S, Meaney B, Łabieniec B, Verdin H, De Baere E, Nowaczyk MJ.

Clin Dysmorphol. 2012 Jan;21(1):48-52. doi: 10.1097/MCD.0b013e32834977f1.

PMID:
21934608
41.

Ectomorphic body habitus, microcephaly, developmental delay with characteristic facial phenotype: a new entity?

Nowaczyk MJ.

Clin Dysmorphol. 2011 Oct;20(4):200-4. doi: 10.1097/MCD.0b013e328349bdb3. No abstract available.

PMID:
21785342
42.

Epiphyseal stippling is not a feature of 7-dehydrocholesterol reductase deficiency (Smith-Lemli-Opitz syndrome).

Nowaczyk MJ.

Am J Med Genet A. 2011 Apr;155A(4):940-1. doi: 10.1002/ajmg.a.33937. Epub 2011 Mar 15. No abstract available.

PMID:
21595006
43.

Dosage effect of zero to three functional LBR-genes in vivo and in vitro.

Gravemann S, Schnipper N, Meyer H, Vaya A, Nowaczyk MJ, Rajab A, Hofmann WK, Salewsky B, Tönnies H, Neitzel H, Stassen HH, Sperling K, Hoffmann K.

Nucleus. 2010 Mar-Apr;1(2):179-89. doi: 10.4161/nucl.1.2.11113. Epub 2010 Jan 3.

44.

Femoral-facial syndrome: Prenatal diagnosis and clinical features. Report of three cases.

Nowaczyk MJ, Huggins MJ, Fleming A, Mohide PT.

Am J Med Genet A. 2010 Aug;152A(8):2029-33. doi: 10.1002/ajmg.a.33543.

PMID:
20635404
45.

The blemmy: A medieval grotesque inspired by iniencephaly?

Nowaczyk MJ.

Am J Med Genet A. 2010 Jun;152A(6):1583-5. doi: 10.1002/ajmg.a.33399. No abstract available.

PMID:
20503340
46.

An uncommon 3.4-Mb interstitial deletion at 3q29.

Wang JC, Naik H, Khan A, Nowaczyk MJ.

Clin Dysmorphol. 2010 Jul;19(3):133-6. doi: 10.1097/MCD.0b013e3283387b21. No abstract available.

PMID:
20414105
47.

4.3-Mb triplication of 4q32.1-q32.2: report of a family through two generations.

Wang JC, Fisker T, Dang L, Teshima I, Nowaczyk MJ.

Am J Med Genet A. 2009 Oct;149A(10):2274-9. doi: 10.1002/ajmg.a.33020.

PMID:
19764020
48.

Molecular breakpoint mapping of 6q11-q14 interstitial deletions in seven patients.

Wang JC, Dang L, Lomax B, Turner L, Shago M, Teebi AS, Klatt R, MacLeod PM, Yong SL, Nowaczyk MJ, Eydoux P.

Am J Med Genet A. 2009 Mar;149A(3):372-9. doi: 10.1002/ajmg.a.32675.

PMID:
19213033
49.

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.

Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LE, Destrée A, Grisart B, Rooms L, Van der Aa N, Field M, Hackett A, Bell K, Nowaczyk MJ, Mancini GM, Poddighe PJ, Schwartz CE, Rossi E, De Gregori M, Antonacci-Fulton LL, McLellan MD 2nd, Garrett JM, Wiechert MA, Miner TL, Crosby S, Ciccone R, Willatt L, Rauch A, Zenker M, Aradhya S, Manning MA, Strom TM, Wagenstaller J, Krepischi-Santos AC, Vianna-Morgante AM, Rosenberg C, Price SM, Stewart H, Shaw-Smith C, Brunner HG, Wilkie AO, Veltman JA, Zuffardi O, Eichler EE, de Vries BB.

J Med Genet. 2008 Nov;45(11):710-20. doi: 10.1136/jmg.2008.058701. Epub 2008 Jul 15. Erratum in: J Med Genet. 2009 Aug;46(8):576.

50.

Paternal deletion 6q24.3: a new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance.

Nowaczyk MJ, Carter MT, Xu J, Huggins M, Raca G, Das S, Martin CL, Schwartz S, Rosenfield R, Waggoner DJ.

Am J Med Genet A. 2008 Feb 1;146A(3):354-60. doi: 10.1002/ajmg.a.32144.

PMID:
18203180

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