Publications by authors named "Howard M Saal"

51Publications

Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes.

Birth Defects Res 2020 Sep 15. Epub 2020 Sep 15.

Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.

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http://dx.doi.org/10.1002/bdr2.1801DOI Listing
September 2020

Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations.

Am J Med Genet C Semin Med Genet 2020 Sep 5;184(3):644-655. Epub 2020 Sep 5.

Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

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http://dx.doi.org/10.1002/ajmg.c.31839DOI Listing
September 2020

Characterization of tracheobronchomalacia in infants with hypophosphatasia.

Orphanet J Rare Dis 2020 08 6;15(1):204. Epub 2020 Aug 6.

Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, OH, USA.

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http://dx.doi.org/10.1186/s13023-020-01483-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7407429PMC
August 2020

Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features.

Mol Genet Genomic Med 2019 11 7;7(11):e969. Epub 2019 Sep 7.

Division of Endocrinology, Cincinnati Children's Hospital and University of Cincinnati College of Medicine, Department of Pediatrics, Cincinnati, OH, USA.

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http://dx.doi.org/10.1002/mgg3.969DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825850PMC
November 2019

The "broken wishbone" splenial sign: A diagnostic hallmark for SPG54 spastic ataxia.

J Neurol Sci 2019 Aug 13;403:114-116. Epub 2019 Jun 13.

Gardner Family Center for Parkinson's Disease and Movement Disorders, Department of Neurology, University of Cincinnati, Cincinnati, OH, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2019.06.012DOI Listing
August 2019

Using human sequencing to guide craniofacial research.

Genesis 2019 01 21;57(1):e23259. Epub 2018 Dec 21.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio, 45229.

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http://doi.wiley.com/10.1002/dvg.23259
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http://dx.doi.org/10.1002/dvg.23259DOI Listing
January 2019

Fowler syndrome and fetal MRI findings: a genetic disorder mimicking hydranencephaly/hydrocephalus.

Pediatr Radiol 2018 07 14;48(7):1032-1034. Epub 2018 Mar 14.

University of Cincinnati College of Medicine, Cincinnati, OH, USA.

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http://link.springer.com/10.1007/s00247-018-4106-z
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http://dx.doi.org/10.1007/s00247-018-4106-zDOI Listing
July 2018

Family History Collection Practices: National Survey of Pediatric Primary Care Providers.

Clin Pediatr (Phila) 2018 05 16;57(5):537-546. Epub 2017 Oct 16.

2 University of Michigan, Ann Arbor, MI, USA.

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http://dx.doi.org/10.1177/0009922817733693DOI Listing
May 2018

Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa.

Mol Genet Metab 2017 09 25;122(1-2):4-17. Epub 2017 Jul 25.

Department of Pediatrics, Osaka University, Suita, Osaka 565-0871, Japan.

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http://dx.doi.org/10.1016/j.ymgme.2017.07.010DOI Listing
September 2017

Genetic Evaluation for Craniofacial Conditions.

Authors:
Howard M Saal

Facial Plast Surg Clin North Am 2016 Nov;24(4):405-425

Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, 3333 Burnet Avenue, MLC 4006, Cincinnati, OH 45229, USA. Electronic address:

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http://dx.doi.org/10.1016/j.fsc.2016.06.001DOI Listing
November 2016

Retrospective Study of Obesity in Children with Down Syndrome.

J Pediatr 2016 06 14;173:143-8. Epub 2016 Mar 14.

Cincinnati Children's Hospital Medical Center, Cincinnati, OH; University of Cincinnati, College of Medicine, Cincinnati, OH.

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http://dx.doi.org/10.1016/j.jpeds.2016.02.046DOI Listing
June 2016

Decision Making for Children with Obstructive Sleep Apnea without Tonsillar Hypertrophy.

Otolaryngol Head Neck Surg 2016 Mar 8;154(3):527-31. Epub 2015 Dec 8.

Division of Pulmonary Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.

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http://oto.sagepub.com/content/early/2015/12/08/019459981562
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http://oto.sagepub.com/lookup/doi/10.1177/0194599815621552
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http://dx.doi.org/10.1177/0194599815621552DOI Listing
March 2016

A new frontonasal dysplasia syndrome associated with deletion of the SIX2 gene.

Am J Med Genet A 2016 Feb 18;170A(2):487-491. Epub 2015 Nov 18.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center and Department of Pediatrics. University of Cincinnati College of Medicine, Cincinnati, Ohio.

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http://dx.doi.org/10.1002/ajmg.a.37441DOI Listing
February 2016

Primary Care Providers' Initial Evaluation of Children with Global Developmental Delay: A Clinical Vignette Study.

J Pediatr 2015 Dec 23;167(6):1404-8.e1. Epub 2015 Oct 23.

Department of Internal Medicine and Department of Human Genetics, University of Michigan, Ann Arbor, MI.

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http://dx.doi.org/10.1016/j.jpeds.2015.08.065DOI Listing
December 2015

The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1.

J Pediatr 2015 Oct 29;167(4):851-856.e1. Epub 2015 Jul 29.

Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; University of Cincinnati College of Medicine, Cincinnati, OH.

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http://dx.doi.org/10.1016/j.jpeds.2015.07.001DOI Listing
October 2015

Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome.

J Allergy Clin Immunol 2016 Jan 17;137(1):179-187.e10. Epub 2015 Jul 17.

Division of Immunology, Allergy and Rheumatology, Department of Internal Medicine, University of Cincinnati College of Medicine, Cincinnati, Ohio.

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http://dx.doi.org/10.1016/j.jaci.2015.06.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4715656PMC
January 2016

Case of Small Vessel Disease Associated with COL4A1 Mutations following Trauma.

Case Rep Neurol 2015 May-Aug;7(2):142-7. Epub 2015 Jun 2.

Department of Neurology and Rehabilitation Medicine, University of Cincinnati College of Medicine, Comprehensive Stroke Center at UC Neuroscience Institute, Ohio, USA.

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http://dx.doi.org/10.1159/000431309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478326PMC
October 2015

Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.

Am J Hum Genet 2015 May 23;96(5):765-74. Epub 2015 Apr 23.

Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, MLC 4006, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1016/j.ajhg.2015.03.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570288PMC
May 2015

Small bowel malrotation in distal 15q duplication: evidence for a rare association.

Clin Dysmorphol 2015 Apr;24(2):65-7

aGenetic Counseling Program, University of Cincinnati College of Medicine bDepartment of Pediatrics, Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

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http://dx.doi.org/10.1097/MCD.0000000000000063DOI Listing
April 2015

Predictive value of fetal lung volume in prenatally diagnosed skeletal dysplasia.

Prenat Diagn 2014 Dec 26;34(13):1326-31. Epub 2014 Aug 26.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

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http://dx.doi.org/10.1002/pd.4475DOI Listing
December 2014

Complexities of gender assignment in 17β-hydroxysteroid dehydrogenase type 3 deficiency: is there a role for early orchiectomy?

Int J Pediatr Endocrinol 2013 Sep 12;2013(1):15. Epub 2013 Sep 12.

Division of Endocrinology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, Ohio 45229, USA.

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http://dx.doi.org/10.1186/1687-9856-2013-15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3847283PMC
September 2013

Technical report: Ethical and policy issues in genetic testing and screening of children.

Genet Med 2013 Mar 21;15(3):234-45. Epub 2013 Feb 21.

Department of Pediatrics, University of Chicago, Chicago, Illinois, USA.

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http://dx.doi.org/10.1038/gim.2012.176DOI Listing
March 2013

Pediatric plexiform neurofibromas: impact on morbidity and mortality in neurofibromatosis type 1.

J Pediatr 2012 Mar 11;160(3):461-7. Epub 2011 Oct 11.

Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

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http://dx.doi.org/10.1016/j.jpeds.2011.08.051DOI Listing
March 2012

Neonates with tongue-based airway obstruction: a systematic review.

Otolaryngol Head Neck Surg 2012 Jan 16;146(1):8-18. Epub 2011 Sep 16.

Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

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http://dx.doi.org/10.1177/0194599811421598DOI Listing
January 2012

Intestinal malrotation in a patient with Pfeiffer syndrome type 2.

Cleft Palate Craniofac J 2010 Nov 28;47(6):638-41. Epub 2010 Feb 28.

Greenwood Genetic Center, Columbia, South Carolina, USA.

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http://dx.doi.org/10.1597/09-115DOI Listing
November 2010

Evaluation of growth in patients with isolated cleft lip and/or cleft palate.

Pediatrics 2010 Mar 8;125(3):e543-9. Epub 2010 Feb 8.

Cincinnati Children's Hospital Medical Center, Division of Human Genetics, 3333 Burnet Ave, MLC 4006, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1542/peds.2009-1656DOI Listing
March 2010

Parental perspectives of children born with cleft lip and/or palate: a qualitative assessment of suggestions for healthcare improvements and interventions.

Cleft Palate Craniofac J 2010 Mar;47(2):143-50

Cincinnati Children's Hospital Medical Center, and Department of Psychology, Xavier University, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1597/08-259_1DOI Listing
March 2010

DiGeorge anomaly in the absence of chromosome 22q11.2 deletion.

J Pediatr 2009 Oct;155(4):560-5

Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, UT, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S002234760900377
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http://dx.doi.org/10.1016/j.jpeds.2009.04.010DOI Listing
October 2009

Characterization of congenital anomalies in individuals with choanal atresia.

Arch Otolaryngol Head Neck Surg 2009 Jun;135(6):543-7

Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229-3039, USA.

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http://archotol.jamanetwork.com/article.aspx?doi=10.1001/arc
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http://dx.doi.org/10.1001/archoto.2009.53DOI Listing
June 2009

Interstitial deletion of 13q associated with polymicrogyria.

Am J Med Genet A 2008 Apr;146A(7):910-6

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA.

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http://dx.doi.org/10.1002/ajmg.a.32188DOI Listing
April 2008

Epidemiology of hemimegalencephaly: a case series and review.

Am J Med Genet A 2005 Dec;139(3):204-11

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1002/ajmg.a.31024DOI Listing
December 2005

Valproate embryopathy: clinical and cognitive profile in 5 siblings.

Am J Med Genet A 2005 Mar;133A(2):202-6

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1002/ajmg.a.30494DOI Listing
March 2005

Family communication about positive BRCA1 and BRCA2 genetic test results.

Genet Med 2004 Nov-Dec;6(6):503-9

Clinical Cancer Genetics, MD Anderson Cancer Center, Houston, Texas, USA.

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http://dx.doi.org/10.1097/01.gim.0000144014.91237.a1DOI Listing
February 2005

Dilated ascending aorta in a child with ring chromosome 21 syndrome.

Am J Med Genet A 2004 Oct;130A(2):191-5

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

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http://dx.doi.org/10.1002/ajmg.a.30143DOI Listing
October 2004

Upper airway malformation associated with partial trisomy 11q.

Am J Med Genet A 2003 Jul;120A(3):331-7

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Ohio 45229, USA.

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http://dx.doi.org/10.1002/ajmg.a.20134DOI Listing
July 2003

Outcomes of a genetics education program for nursing faculty.

Nurs Educ Perspect 2003 Mar-Apr;24(2):81-5

Department of Patient Services, Division of Nursing, Department of Pediatrics, Division of Human Genetics, Children's Hospital Medical Center, Cincinnati, Ohio, USA.

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June 2003

Unexpected survival in a case of prenatally diagnosed non-mosaic trisomy 22: Clinical report and review of the natural history.

Am J Med Genet A 2003 Apr;118A(1):90-5

Cincinnati Children's Hospital Medical Center, Division of Human Genetics, Cincinnati, Ohio 45229, USA.

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http://dx.doi.org/10.1002/ajmg.a.10216DOI Listing
April 2003

Prenatal diagnosis: when the clinician disagrees with the patient's decision.

Authors:
Howard M Saal

Cleft Palate Craniofac J 2002 Mar;39(2):174-8

Clinical Genetics, Division of Human Genetics, Children's Hospital Medical Center, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1597/1545-1569_2002_039_0174_pdwtcd_2.0.co_2DOI Listing
March 2002

Guidelines for the design and analysis of studies on nonsyndromic cleft lip and cleft palate in humans: summary report from a Workshop of the International Consortium for Oral Clefts Genetics.

Cleft Palate Craniofac J 2002 Jan;39(1):93-100

Center for Clinical Epidemiology and Biostatistics, The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104-6021, USA.

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http://dx.doi.org/10.1597/1545-1569_2002_039_0093_gftdaa_2.0.co_2DOI Listing
January 2002