Publications by authors named "Michael Marble"

27Publications

Gorlin-like phenotype in a patient with a PTCH2 variant of uncertain significance.

Eur J Med Genet 2020 Apr 13;63(4):103842. Epub 2020 Jan 13.

Department of Pediatrics, Division of Clinical Genetics and Metabolism, LSU Health Sciences Center and Children's Hospital, New Orleans, LA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.103842DOI Listing
April 2020

RAF1 variants causing biventricular hypertrophic cardiomyopathy in two preterm infants: further phenotypic delineation and review of literature.

Clin Dysmorphol 2017 Oct;26(4):195-199

aDepartment of Pediatrics, Division of Neonatology bDepartment of Pediatrics, Division of Cardiology cDepartment of Pediatrics, Division of Genetics, Louisiana State University Health Sciences Center and Children's Hospital of New Orleans, New Orleans, Louisiana, USA.

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http://dx.doi.org/10.1097/MCD.0000000000000194DOI Listing
October 2017

Cardiac response to enzyme replacement therapy in infantile Pompe disease with severe hypertrophic cardiomyopathy.

Echocardiography 2017 Apr 7;34(4):621-624. Epub 2017 Mar 7.

Department of Pediatrics (Cardiology), Louisiana State University Health Sciences Center, New Orleans, LA, USA.

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http://doi.wiley.com/10.1111/echo.13490
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http://dx.doi.org/10.1111/echo.13490DOI Listing
April 2017

Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair.

Am J Med Genet A 2017 02 21;173(2):565-567. Epub 2016 Nov 21.

Division of Genetics, Department of Pediatrics, Louisiana State University Health Sciences Center School of Medicine, and Children's Hospital, New Orleans, Louisiana.

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http://dx.doi.org/10.1002/ajmg.a.38056DOI Listing
February 2017

Congenital insensitivity to pain and anhidrosis: Case report and review of findings along neuro-immune axis in the disorder.

J Neurol Sci 2016 Nov 23;370:201-210. Epub 2016 Sep 23.

Louisiana State University Health Sciences Center, Department of Neurology, United States; Department of Neurology, Children's Hospital New Orleans, LA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2016.09.037DOI Listing
November 2016

Bilateral absence of the ulna in 4q terminal deletion syndrome: evidence for a critical region.

Clin Dysmorphol 2015 Jul;24(3):122-4

aLouisiana State University Health Sciences Center, School of Medicine bDepartment of Pediatrics, Louisiana State University Health Sciences Center, Division of Neonatology cDepartment of Pediatrics, Louisiana State University Health Sciences Center, Division of Clinical Genetics, Children's Hospital of New Orleans, New Orleans, Louisiana, USA.

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http://dx.doi.org/10.1097/MCD.0000000000000078DOI Listing
July 2015

8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients.

Am J Med Genet A 2013 Mar 23;161A(3):487-500. Epub 2013 Jan 23.

Faculty of Medicine, Department of Human Genetics and Genomic Medicine, University of Southampton, Southampton General Hospital, Southampton, UK.

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http://dx.doi.org/10.1002/ajmg.a.35767DOI Listing
March 2013

Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay.

Am J Med Genet A 2011 Dec 7;155A(12):3110-5. Epub 2011 Nov 7.

Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, Washington, USA.

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http://doi.wiley.com/10.1002/ajmg.a.34345
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http://dx.doi.org/10.1002/ajmg.a.34345DOI Listing
December 2011

Positive newborn screen in a normal infant of a mother with asymptomatic very long-chain Acyl-CoA dehydrogenase deficiency.

J Pediatr 2011 Jun 22;158(6):1031-2. Epub 2011 Mar 22.

Department of Pathology, Louisiana State University Health Sciences Center, New Orleans, LA, USA.

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http://dx.doi.org/10.1016/j.jpeds.2011.01.063DOI Listing
June 2011

Monosomy 18p and immunologic dysfunction: review of the literature and a new case report with thyroiditis, IgA deficiency, and systemic lupus erythematosus.

Clin Dysmorphol 2011 Apr;20(2):127-30

Department of Pathology, Division of Clinical Genetics, Louisiana State University, Health Sciences Center, New Orleans, Louisiana, USA.

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http://dx.doi.org/10.1097/MCD.0b013e3283414db7DOI Listing
April 2011

45,X/47,XX,+18 and ring (18) mosaicism with mild phenotypic features including normal stature: clinical report and review of the literature.

Clin Dysmorphol 2009 Jan;18(1):59-61

Department of Pathology, Division of Clinical Genetics, Louisiana State University Health Sciences Center, New Orleans, Louisiana, USA.

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http://dx.doi.org/10.1097/MCD.0b013e3283186923DOI Listing
January 2009

Neonatal vitamin B12 deficiency secondary to maternal subclinical pernicious anemia: identification by expanded newborn screening.

J Pediatr 2008 May;152(5):731-3

Department of Pediatrics, Division of Clinical Genetics, Louisiana State University Health Sciences Center, Children's Hospital of New Orleans, New Orleans, LA, USA.

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http://dx.doi.org/10.1016/j.jpeds.2008.01.023DOI Listing
May 2008

Living related liver transplant in a patient with argininosuccinic aciduria and cirrhosis: metabolic follow-up.

J Pediatr Gastroenterol Nutr 2008 Apr;46(4):453-6

Department of Pediatrics, Louisiana State University Health Sciences Center, New Orleans, LA, USA.

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http://dx.doi.org/10.1097/MPG.0b013e3180ca8720DOI Listing
April 2008

Pelizaeus-Merzbacher syndrome: neurocognitive function in a family with carrier manifestations.

Am J Med Genet A 2007 Jul;143A(13):1442-7

Division of Clinical Genetics, Department of Pediatrics, Children's Hospital of New Orleans, Louisiana State University Health Sciences Center, 200 Henry Clay Avenue, New Orleans, LA 70118, USA.

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http://dx.doi.org/10.1002/ajmg.a.31804DOI Listing
July 2007

Phenotypic features of a boy with trisomy of 16q22-->qter due to paternal Y; 16 translocation.

Clin Dysmorphol 2005 Oct;14(4):177-81

Louisiana State University Health Sciences Center, Department of Genetics, New Orleans, LA 70112, USA.

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http://dx.doi.org/10.1097/00019605-200510000-00002DOI Listing
October 2005

Scoliosis in velo-cardio-facial syndrome.

J Pediatr Orthop 2002 Nov-Dec;22(6):780-3

Children's Hospital, New Orleans, Louisiana 70118, USA.

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March 2003

Scalp defects, polythelia, microcephaly, and developmental delay: a new syndrome with apparent autosomal dominant inheritance.

Am J Med Genet 2002 Apr;108(4):327-32

Human Genetics Program, Hayward Genetics Center and Department of Pediatrics, Tulane University School of Medicine, New Orleans, Louisiana, USA.

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http://dx.doi.org/10.1002/ajmg.10280DOI Listing
April 2002

Transposition of the great arteries and hypocalcemia in a patient with fetal hydantoin syndrome.

J Perinatol 2002 Jan;22(1):89-90

Department of Human Genetics and Pediatrics, Division of Neonatology, Tulane University School of Medicine, New Orleans, LA, USA.

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http://dx.doi.org/10.1038/sj.jp.7210596DOI Listing
January 2002