Lorraine Potocki

Lorraine Potocki

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Lorraine Potocki

Lorraine Potocki

Publications by authors named "Lorraine Potocki"

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70Publications

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Hypertension in Potocki-Shaffer syndrome: A case report.

Eur J Med Genet 2020 Jan 20;63(1):103633. Epub 2019 Feb 20.

Baylor College of Medicine, Department of Pediatrics, USA; Baylor College of Medicine, Renal Section, Department of Pediatrics, and Texas Children's Hospital, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.02.005DOI Listing
January 2020

Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability.

J Pediatr Genet 2019 Dec 9;8(4):244-251. Epub 2019 Jul 9.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States.

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http://dx.doi.org/10.1055/s-0039-1693151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6824885PMC
December 2019

Objective measures of sleep disturbances in children with Potocki-Lupski syndrome.

Am J Med Genet A 2019 Oct 24;179(10):1982-1986. Epub 2019 Jul 24.

Texas Children's Hospital, Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.61307DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6953247PMC
October 2019

Arnold-Chiari type 1 malformation in Potocki-Lupski syndrome.

Am J Med Genet A 2019 07 8;179(7):1366-1370. Epub 2019 May 8.

Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida.

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http://dx.doi.org/10.1002/ajmg.a.61187DOI Listing
July 2019

Severe Pancytopenia in a Premature Infant.

Clin Pediatr (Phila) 2017 07 25;56(8):795-797. Epub 2016 Nov 25.

1 Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1177/0009922816678817DOI Listing
July 2017

Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function.

Am J Med Genet A 2017 Mar 27;173(3):716-720. Epub 2017 Jan 27.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

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http://doi.wiley.com/10.1002/ajmg.a.37988
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http://dx.doi.org/10.1002/ajmg.a.37988DOI Listing
March 2017

Novel EED mutation in patient with Weaver syndrome.

Am J Med Genet A 2017 Feb 21;173(2):541-545. Epub 2016 Nov 21.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.38055DOI Listing
February 2017

Utility of whole exome sequencing in evaluation of juvenile motor neuron disease.

Muscle Nerve 2016 Apr 22;53(4):648-52. Epub 2016 Feb 22.

Department of Pediatric Neurology, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas, 77030, USA.

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http://dx.doi.org/10.1002/mus.25030DOI Listing
April 2016

Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive.

Am J Med Genet A 2016 Mar 14;170(3):694-8. Epub 2015 Nov 14.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.37469DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4760878PMC
March 2016

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.

Am J Hum Genet 2015 Nov;97(5):691-707

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297150040
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http://dx.doi.org/10.1016/j.ajhg.2015.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4667131PMC
November 2015

Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski Syndromes.

J Pediatr Genet 2015 Sep 28;4(3):159-67. Epub 2015 Sep 28.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States; Texas Children's Hospital, Houston, Texas, United States.

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http://dx.doi.org/10.1055/s-0035-1564443DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4918721PMC
September 2015

Handing the pen to the patient: reflective writing for children and families affected by genetic conditions.

Am J Med Genet A 2014 Dec 24;164A(12):3021-6. Epub 2014 Sep 24.

Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.36776DOI Listing
December 2014

Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome.

Am J Med Genet A 2014 Feb 5;164A(2):500-4. Epub 2013 Dec 5.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas; Texas Children's Hospital, Houston, Texas.

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http://doi.wiley.com/10.1002/ajmg.a.36287
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http://dx.doi.org/10.1002/ajmg.a.36287DOI Listing
February 2014

Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.

Nat Genet 2013 Nov 29;45(11):1405-8. Epub 2013 Sep 29.

1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. [2] Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA. [3].

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http://www.nature.com/articles/ng.2776
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http://dx.doi.org/10.1038/ng.2776DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3819162PMC
November 2013

Stress and well-being among parents of children with Potocki-Lupski syndrome.

J Genet Couns 2013 Oct 25;22(5):633-42. Epub 2013 May 25.

Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Texas Medical School at Houston, 6410 Fannin St., Ste. 1217, Houston, TX, USA, 77030,

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http://dx.doi.org/10.1007/s10897-013-9602-6DOI Listing
October 2013

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.

Am J Hum Genet 2013 Aug 27;93(2):197-210. Epub 2013 Jun 27.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://www.cell.com/cms/attachment/2024885301/2044552963/mmc
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http://linkinghub.elsevier.com/retrieve/pii/S000292971300269
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http://dx.doi.org/10.1016/j.ajhg.2013.05.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738832PMC
August 2013

Cardiovascular findings in duplication 17p11.2 syndrome.

Genet Med 2012 Jan 17;14(1):90-4. Epub 2011 Oct 17.

Section of Pediatric Cardiology, Texas Children's Hospital, Houston, Texas, USA.

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http://dx.doi.org/10.1038/gim.0b013e3182329723DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3666919PMC
January 2012

Enhancing exposure to genetics and genomics through an innovative medical school curriculum.

Genet Med 2012 Jan 26;14(1):163-7. Epub 2011 Sep 26.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1038/gim.0b013e31822dd7d4DOI Listing
January 2012

Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation.

Int J Pediatr Endocrinol 2011 6;2011(1). Epub 2011 Jul 6.

Endocrinology section-Department of Pediatrics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

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http://dx.doi.org/10.1186/1687-9856-2011-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3159139PMC
November 2011

Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations.

Am J Med Genet A 2011 Aug 7;155A(8):2024-7. Epub 2011 Jul 7.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1002/ajmg.a.34098DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3140606PMC
August 2011

SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction.

Am J Med Genet A 2011 May 4;155A(5):1165-9. Epub 2011 Apr 4.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://doi.wiley.com/10.1002/ajmg.a.33968
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http://dx.doi.org/10.1002/ajmg.a.33968DOI Listing
May 2011

The severe end of the spectrum: Hypoplastic left heart in Potocki-Lupski syndrome.

Am J Med Genet A 2011 Feb 13;155A(2):363-6. Epub 2011 Jan 13.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1002/ajmg.a.33844DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3092288PMC
February 2011

Cognitive and behavioral characterization of the Potocki-Lupski syndrome (duplication 17p11.2).

J Dev Behav Pediatr 2010 Feb-Mar;31(2):137-43

Division of Child and Adolescent Psychiatry, The Menninger Department of Psychiatry and Behavioral Sciences, Baylor College of Medicine, Houston, TX 77030-2399, USA.

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https://insights.ovid.com/crossref?an=00004703-201002000-000
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http://dx.doi.org/10.1097/DBP.0b013e3181cda67eDOI Listing
May 2010

Common recurrent microduplication syndromes: diagnosis and management in clinical practice.

Am J Med Genet A 2010 May;152A(5):1066-78

Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

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http://dx.doi.org/10.1002/ajmg.a.33185DOI Listing
May 2010

Holoprosencephaly in an 8.5-week triploidy gestation.

Clin Dysmorphol 2009 Jul;18(3):166-7

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1097/MCD.0b013e32832a9e90DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2745218PMC
July 2009

Coexistence of an unbalanced chromosomal rearrangement and spinal muscular atrophy in an infant with multiple congenital anomalies.

Am J Med Genet A 2009 Mar;149A(3):515-8

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/ajmg.a.32667DOI Listing
March 2009

Brain proton magnetic resonance spectroscopy and neuromuscular pathology in a patient with GM1 gangliosidosis.

J Child Neurol 2008 Jan;23(1):73-8

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1177/0883073807307088DOI Listing
January 2008

RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.

Am J Med Genet A 2006 Nov;140(22):2454-63

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas 77030-3498, USA.

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http://dx.doi.org/10.1002/ajmg.a.31510DOI Listing
November 2006

Cognitive and adaptive behavior profiles in Smith-Magenis syndrome.

J Dev Behav Pediatr 2006 Jun;27(3):188-92

Meyer Center for Developmental Pediatrics, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, TX 77030, USA.

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http://dx.doi.org/10.1097/00004703-200606000-00002DOI Listing
June 2006

Epilepsy and chromosomal rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)].

J Child Neurol 2006 Feb;21(2):93-8

Department of Neurology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA.

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http://dx.doi.org/10.1177/08830738060210021201DOI Listing
February 2006

Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol.

Am J Med Genet A 2005 Sep;138(1):56-60

Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, Houston 77030, USA.

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http://dx.doi.org/10.1002/ajmg.a.30898DOI Listing
September 2005

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome.

Hum Genet 2004 Nov 30;115(6):515-24. Epub 2004 Sep 30.

Department of Molecular and Human Genetics, Baylor College of Medicine, Room 604B, One Baylor Plaza, Houston, TX 77030-3498, USA.

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http://dx.doi.org/10.1007/s00439-004-1187-6DOI Listing
November 2004

What syndrome is this? Cockayne syndrome.

Pediatr Dermatol 2003 Nov-Dec;20(6):538-40

Department of Dermatology, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1111/j.1525-1470.2003.20619.xDOI Listing
April 2004

Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)].

Genet Med 2003 Nov-Dec;5(6):430-4

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1097/01.gim.0000095625.14160.abDOI Listing
February 2004

Trisomy 14 mosaicism: a case report and review of the literature.

J Perinatol 2004 Feb;24(2):121-3

Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1038/sj.jp.7211048DOI Listing
February 2004

Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2).

Genet Med 2002 May-Jun;4(3):118-25

Medical Genetics Branch, National Human Genome Research Institute, NIH, Bldg. 10, Room 10C103, 10 Center Drive, MSC 1875, Bethesda, MD 20892-1875, USA.

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http://dx.doi.org/10.1097/00125817-200205000-00004DOI Listing
August 2003

Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation.

Am J Med Genet A 2003 Apr;118A(2):384-9

Department of Molecular and Human Genetics, Baylor College of Medicine, Room S434, One Baylor Plaza, Houston, TX 77030, USA.

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April 2003

The hand in Smith-Magenis syndrome (deletion 17p11.2): evaluation by metacarpophalangeal pattern profile analysis.

Pediatr Radiol 2003 Mar 12;33(3):173-6. Epub 2002 Nov 12.

Department of Diagnostic Imaging, Texas Children's Hospital, 6621 Fannin Street, MC2-2521, Houston 77030, USA.

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http://link.springer.com/10.1007/s00247-002-0826-0
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http://dx.doi.org/10.1007/s00247-002-0826-0DOI Listing
March 2003

DFNB3, spectrum of MYO15A recessive mutant alleles and an emerging genotype-phenotype correlation.

Adv Otorhinolaryngol 2002 ;61:124-30

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Md., USA.

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http://dx.doi.org/10.1159/000066824DOI Listing
February 2003

Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation.

Am J Med Genet 2002 Nov;112(4):384-9

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/ajmg.10659DOI Listing
November 2002