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1.

Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.

Boyle, Lia; Wamelink, Mirjam M C; Salomons, Gajja S; Roos, Birthe; Pop, Ana; Dauber, Andrew; Hwa, Vivian; Andrew, Melissa; Douglas, Jessica; Feingold, Murray; Kramer, Nancy; Saitta, Sulagna; Retterer, Kyle; Cho, Megan T; Begtrup, Amber; Monaghan, Kristin G; Wynn, Julia; Chung, Wendy K.

Am J Hum Genet ; 98(6): 1235-1242, 2016 06 02.

Artículo en Inglés | MEDLINE | ID: mdl-27259054

2.

Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing.

Zarate, Yuri A; Perry, Hazel; Ben-Omran, Tawfeg; Sellars, Elizabeth A; Stein, Quinn; Almureikhi, Mariam; Simmons, Kirk; Klein, Ophir; Fish, Jennifer; Feingold, Murray; Douglas, Jessica; Kruer, Michael C; Si, Yue; Mao, Rong; McKnight, Dianalee; Gibellini, Federica; Retterer, Kyle; Slavotinek, Anne.

Am J Med Genet A ; 167A(5): 1026-32, 2015 May.

Artículo en Inglés | MEDLINE | ID: mdl-25885067

3.

Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.

de Munnik, Sonja A; Otten, Barto J; Schoots, Jeroen; Bicknell, Louise S; Aftimos, Salim; Al-Aama, Jumana Y; van Bever, Yolande; Bober, Michael B; Borm, George F; Clayton-Smith, Jill; Deal, Cheri L; Edrees, Alaa Y; Feingold, Murray; Fryer, Alan; van Hagen, Johanna M; Hennekam, Raoul C; Jansweijer, Maaike C E; Johnson, Diana; Kant, Sarina G; Opitz, John M; Ramadevi, A Radha; Reardon, Willie; Ross, Alison; Sarda, Pierre; Schrander-Stumpel, Constance T R M; Sluiter, A Erik; Temple, I Karen; Terhal, Paulien A; Toutain, Annick; Wise, Carol A; Wright, Michael; Skidmore, David L; Samuels, Mark E; Hoefsloot, Lies H; Knoers, Nine V A M; Brunner, Han G; Jackson, Andrew P; Bongers, Ernie M H F.

Am J Med Genet A ; 158A(11): 2733-42, 2012 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-23023959

4.

Missed appointments in a genetics and birth defects clinic.

Feingold, Murray.

Am J Med Genet A ; 149A(6): 1308-9, 2009 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-19444896

5.

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.

de Munnik, Sonja A; Bicknell, Louise S; Aftimos, Salim; Al-Aama, Jumana Y; van Bever, Yolande; Bober, Michael B; Clayton-Smith, Jill; Edrees, Alaa Y; Feingold, Murray; Fryer, Alan; van Hagen, Johanna M; Hennekam, Raoul C; Jansweijer, Maaike C E; Johnson, Diana; Kant, Sarina G; Opitz, John M; Ramadevi, A Radha; Reardon, Willie; Ross, Alison; Sarda, Pierre; Schrander-Stumpel, Constance T R M; Schoots, Jeroen; Temple, I Karen; Terhal, Paulien A; Toutain, Annick; Wise, Carol A; Wright, Michael; Skidmore, David L; Samuels, Mark E; Hoefsloot, Lies H; Knoers, Nine V A M; Brunner, Han G; Jackson, Andrew P; Bongers, Ernie M H F.

Eur J Hum Genet ; 20(6): 598-606, 2012 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-22333897

6.

Mutations in the pre-replication complex cause Meier-Gorlin syndrome.

Bicknell, Louise S; Bongers, Ernie M H F; Leitch, Andrea; Brown, Stephen; Schoots, Jeroen; Harley, Margaret E; Aftimos, Salim; Al-Aama, Jumana Y; Bober, Michael; Brown, Paul A J; van Bokhoven, Hans; Dean, John; Edrees, Alaa Y; Feingold, Murray; Fryer, Alan; Hoefsloot, Lies H; Kau, Nikolaus; Knoers, Nine V A M; Mackenzie, James; Opitz, John M; Sarda, Pierre; Ross, Alison; Temple, I Karen; Toutain, Annick; Wise, Carol A; Wright, Michael; Jackson, Andrew P.

Nat Genet ; 43(4): 356-9, 2011 Feb 27.

Artículo en Inglés | MEDLINE | ID: mdl-21358632

7.

Meier-Gorlin syndrome.

Feingold, Murray.

Am J Med Genet ; 109(4): 338, 2002 May 15.

Artículo en Inglés | MEDLINE | ID: mdl-11992493

8.

Thirty-two year follow-up of the first patient reported with the Floating-Harbor syndrome.

Feingold, Murray.

Am J Med Genet A ; 140(7): 782-4, 2006 Apr 01.

Artículo en Inglés | MEDLINE | ID: mdl-16523514

9.

Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.

Hanks, Sandra; Adams, Sarah; Douglas, Jenny; Arbour, Laura; Atherton, David J; Balci, Sevim; Bode, Harald; Campbell, Mary E; Feingold, Murray; Keser, Gökhan; Kleijer, Wim; Mancini, Grazia; McGrath, John A; Muntoni, Francesco; Nanda, Arti; Teare, M Dawn; Warman, Matthew; Pope, F Michael; Superti-Furga, Andrea; Futreal, P Andrew; Rahman, Nazneen.

Am J Hum Genet ; 73(4): 791-800, 2003 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-14508707

10.

Random thoughts continued.

Feingold, Murray.

Arch Pediatr Adolesc Med ; 162(1): 8, 2008 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-18180405

11.

The use of inappropriate, demeaning, and pejorative terminology to describe syndromes.

Feingold, Murray.

Am J Med Genet A ; 140(4): 410-1; discussion 412, 2006 Feb 15.

Artículo en Inglés | MEDLINE | ID: mdl-16419131

12.

Juvenile hyaline fibromatosis: report of a case and comparison with infantile systemic hyalinosis.

Lim, Asher A T; Kozakewich, Harry P W; Feingold, Murray; Padwa, Bonnie L.

J Oral Maxillofac Surg ; 63(2): 271-4, 2005 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-15690301

13.

Down syndrome adults.

Feingold, Murray.

Am J Med Genet A ; 124A(4): 416, 2004 Feb 01.

Artículo en Inglés | MEDLINE | ID: mdl-14735594

14.

Cardiac studies on Down syndrome infants.

Feingold, Murray.

Am J Med Genet A ; 120A(3): 444, 2003 Jul 30.

Artículo en Inglés | MEDLINE | ID: mdl-12838573

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Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.

Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing.

Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.

Missed appointments in a genetics and birth defects clinic.

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.

Mutations in the pre-replication complex cause Meier-Gorlin syndrome.

Meier-Gorlin syndrome.

Thirty-two year follow-up of the first patient reported with the Floating-Harbor syndrome.

Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.

Random thoughts continued.

The use of inappropriate, demeaning, and pejorative terminology to describe syndromes.

Juvenile hyaline fibromatosis: report of a case and comparison with infantile systemic hyalinosis.

Down syndrome adults.

Cardiac studies on Down syndrome infants.