Publications by authors named "Lakshmi Mehta"

33Publications

Headaches in hypermobility syndromes: A pain in the neck?

Am J Med Genet A 2020 Sep 17. Epub 2020 Sep 17.

Zena and Michael A. Weiner Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

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http://dx.doi.org/10.1002/ajmg.a.61873DOI Listing
September 2020

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

J Hum Genet 2019 Dec 17;64(12):1173-1186. Epub 2019 Sep 17.

Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.

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http://dx.doi.org/10.1038/s10038-019-0667-4DOI Listing
December 2019

Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints.

Mol Genet Genomic Med 2019 08 19;7(8):e806. Epub 2019 Jun 19.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York.

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http://dx.doi.org/10.1002/mgg3.806DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687617PMC
August 2019

Molecular Genetics of Noonan Syndrome and RASopathies.

Pediatr Endocrinol Rev 2019 May;16(Suppl 2):435-446

Department of Genetics and Genomic Sciences and Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA, E-mail:

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http://dx.doi.org/10.17458/per.vol16.2019.lm.molecularnoonanDOI Listing
May 2019

Clinical Manifestations of Noonan Syndrome and Related Disorders.

Pediatr Endocrinol Rev 2019 May;16(Suppl 2):428-434

Department of Genetics & Genomic Sciences & Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, USA, E-mail:

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http://pediatricendoreviews.com
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http://dx.doi.org/10.17458/per.vol16.2019.bm.clinicalnoonanDOI Listing
May 2019

Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN.

Am J Med Genet A 2018 09 8;176(9):1956-1963. Epub 2018 Aug 8.

Laboratory Corporation of America Holdings, Center for Molecular Biology and Pathology, Research Triangle Park, North Carolina.

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http://dx.doi.org/10.1002/ajmg.a.40355DOI Listing
September 2018

Protein-losing enteropathy and joint contractures caused by a novel homozygous ANTXR2 mutation.

Adv Genomics Genet 2018 27;8:17-21. Epub 2018 Jun 27.

Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.2147/AGG.S159077DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057141PMC
June 2018

Hereditary Renal Diseases.

Semin Nephrol 2017 07;37(4):354-361

Division of Nephrology, Department of Medicine, Albert Einstein College of Medicine, Jacobi Medical Center, Bronx, NY.

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http://dx.doi.org/10.1016/j.semnephrol.2017.05.007DOI Listing
July 2017

Chromosomal Microarray Detection of Constitutional Copy Number Variation Using Saliva DNA.

J Mol Diagn 2017 05 18;19(3):397-403. Epub 2017 Mar 18.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2016.11.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417105PMC
May 2017

Genetic Techniques in the Evaluation of Short Stature.

Endocrinol Metab Clin North Am 2016 06;45(2):345-58

Division of Pediatric Endocrinology and Diabetes, Kravis Children's Hospital at Mount Sinai, One Gustave L. Levy Place, Box 1616, New York, NY 10029, USA; Division of Pediatric Endocrinology and Diabetes, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1616, New York, NY 10029, USA.

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http://dx.doi.org/10.1016/j.ecl.2016.02.006DOI Listing
June 2016

CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein.

Am J Hum Genet 2015 Jan 31;96(1):162-9. Epub 2014 Dec 31.

Division of Medical Genetics, Icahn School of Medicine at Mount Sinai & Mount Sinai Medical Center, 1 Gustave Levy Place, New York, NY 10029, USA.

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http://dx.doi.org/10.1016/j.ajhg.2014.11.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4289687PMC
January 2015

Cleft lip and/or palate: one organization's experience with more than a quarter million surgeries during the past decade.

J Craniofac Surg 2014 Sep;25(5):1601-9

From the Departments of *Genetics and Genomic Sciences, †Pediatrics, ‡Surgery, and Dentistry, Mount Sinai Medical Center, New York, New York; §University of Texas Medical School at Houston, Houston, Texas; and ∥State University of New York Downstate College of Medicine, Brooklyn, New York.

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http://dx.doi.org/10.1097/SCS.0000000000000883DOI Listing
September 2014

46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1.

Eur J Med Genet 2013 Nov 20;56(11):619-23. Epub 2013 Sep 20.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3880784PMC
November 2013

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

Phenotypic heterogeneity in a family with a small atypical microduplication of chromosome 22q11.2 involving TBX1.

Eur J Med Genet 2012 Dec 9;55(12):732-6. Epub 2012 Oct 9.

Department of Genetics & Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA.

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http://dx.doi.org/10.1016/j.ejmg.2012.08.011DOI Listing
December 2012

17q12 Deletion in a patient with Williams syndrome: Case report and review of the literature.

J Pediatr Genet 2012 Jun;1(2):135-41

Williams Syndrome Center, The Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY, USA.

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http://dx.doi.org/10.3233/PGE-2012-022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020933PMC
June 2012

Complex autism spectrum disorder in a patient with a 17q12 microduplication.

Am J Med Genet A 2012 May 4;158A(5):1170-7. Epub 2012 Apr 4.

Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, New York 100029, USA.

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http://dx.doi.org/10.1002/ajmg.a.35267DOI Listing
May 2012

Mandibular distraction in the setting of chromosome 4q deletion.

J Plast Reconstr Aesthet Surg 2012 Apr 9;65(4):e95-8. Epub 2011 Dec 9.

Mount Sinai Cleft & Craniofacial Center, Mount Sinai Kravis Children's Hospital, 5 East 98th Street, Box 1259, New York, NY 10029, USA.

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http://dx.doi.org/10.1016/j.bjps.2011.11.031DOI Listing
April 2012

Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH.

Am J Med Genet A 2011 Oct;155A(10):2508-11

Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA.

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http://dx.doi.org/10.1002/ajmg.a.34180DOI Listing
October 2011

Pompe disease: dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients.

Mol Genet Metab 2010 Oct-Nov;101(2-3):130-3. Epub 2010 Jun 22.

Division of Medical Genetics, North Shore-Long Island Jewish Health System, 1554 Northern Boulevard, Suite 204, Manhasset, NY 11030, United States.

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http://dx.doi.org/10.1016/j.ymgme.2010.06.003DOI Listing
January 2011

Ovotesticular disorder of sexual development (true hermaphroditism).

Urology 2009 Feb 26;73(2):293-6. Epub 2008 Sep 26.

Department of Pathology, Stony Brook University Hospital, Stony Brook, New York 11794-7300, USA.

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http://dx.doi.org/10.1016/j.urology.2008.08.428DOI Listing
February 2009

ABCA12 is the major harlequin ichthyosis gene.

J Invest Dermatol 2006 Nov 10;126(11):2408-13. Epub 2006 Aug 10.

Centre for Cutaneous Research, Institute of Cell and Molecular Science, Queen Mary's School of Medicine and Dentistry, Queen Mary, University of London, London, UK.

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http://dx.doi.org/10.1038/sj.jid.5700455DOI Listing
November 2006

Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential candidate genes.

Genomics 2005 May;85(5):608-21

Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada T6G 2H7.

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https://linkinghub.elsevier.com/retrieve/pii/S08887543050002
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http://dx.doi.org/10.1016/j.ygeno.2005.01.010DOI Listing
May 2005