Maximilian Muenke

Maximilian Muenke

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Maximilian Muenke

Maximilian Muenke

Publications by authors named "Maximilian Muenke"

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98Publications

2020Reads

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Novel heterozygous variants in KMT2D associated with holoprosencephaly.

Clin Genet 2019 Sep 15;96(3):266-270. Epub 2019 Jul 15.

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

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http://dx.doi.org/10.1111/cge.13598DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6690755PMC
September 2019

Introducing in AJMG Part A: Genetic Syndromes in Adults.

Am J Med Genet A 2019 Aug 26;179(8):1413-1414. Epub 2019 Mar 26.

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

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http://dx.doi.org/10.1002/ajmg.a.61141DOI Listing
August 2019

Tuberous sclerosis in a patient from Nigeria.

Am J Med Genet A 2019 Aug 29;179(8):1423-1425. Epub 2019 May 29.

Center for Research on Genomics and Global Health, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.61194DOI Listing
August 2019

Onward and upward.

Am J Med Genet A 2019 Jul 29;179(7):1119-1121. Epub 2019 May 29.

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

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http://dx.doi.org/10.1002/ajmg.a.61207DOI Listing
July 2019

Diversity and dysmorphology.

Curr Opin Pediatr 2019 Jul 31. Epub 2019 Jul 31.

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

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http://dx.doi.org/10.1097/MOP.0000000000000816DOI Listing
July 2019

A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly.

Am J Hum Genet 2019 May 18;104(5):990-993. Epub 2019 Apr 18.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506867PMC
May 2019

Low-level parental mosaicism affects the recurrence risk of holoprosencephaly.

Genet Med 2019 04 10;21(4):1015-1020. Epub 2018 Sep 10.

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

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http://www.nature.com/articles/s41436-018-0261-8
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http://dx.doi.org/10.1038/s41436-018-0261-8DOI Listing
April 2019

Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population.

Eur J Med Genet 2019 Mar 25. Epub 2019 Mar 25.

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

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183059
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http://dx.doi.org/10.1016/j.ejmg.2019.03.007DOI Listing
March 2019

An International Summit in Human Genetics and Genomics: Empowering clinical practice and research in developing countries.

Mol Genet Genomic Med 2019 01;7(1):e00599

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/mgg3.599DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6382448PMC
January 2019

Clinical epidemiology of congenital heart disease in Nigerian children, 2012-2017.

Birth Defects Res 2018 10 19;110(16):1233-1240. Epub 2018 Sep 19.

Center for Research on Genomics and Global Health, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/bdr2.1361DOI Listing
October 2018

Early inspirations from times gone by.

Am J Med Genet A 2018 Sep 31;176(9):1797-1798. Epub 2018 Jul 31.

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://doi.wiley.com/10.1002/ajmg.a.40474
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http://dx.doi.org/10.1002/ajmg.a.40474DOI Listing
September 2018

Introducing in AJMG Part A: Case reports in diverse populations.

Am J Med Genet A 2018 07;176(7):1547-1548

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

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http://doi.wiley.com/10.1002/ajmg.a.40353
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http://dx.doi.org/10.1002/ajmg.a.40353DOI Listing
July 2018

Loss-of-function mutations in FGF8 can be independent risk factors for holoprosencephaly.

Hum Mol Genet 2018 06;27(11):1989-1998

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-3717, USA.

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http://dx.doi.org/10.1093/hmg/ddy106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6251617PMC
June 2018

Clinical and Demographic Evaluation of a Holoprosencephaly Cohort From the Kyoto Collection of Human Embryos.

Anat Rec (Hoboken) 2018 06 16;301(6):973-986. Epub 2018 Apr 16.

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ar.23791DOI Listing
June 2018

Extracephalic manifestations of nonchromosomal, nonsyndromic holoprosencephaly.

Am J Med Genet C Semin Med Genet 2018 06 15;178(2):246-257. Epub 2018 May 15.

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

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http://dx.doi.org/10.1002/ajmg.c.31616DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6125181PMC
June 2018

Holoprosencephaly in the genomics era.

Am J Med Genet C Semin Med Genet 2018 06 17;178(2):165-174. Epub 2018 May 17.

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

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http://dx.doi.org/10.1002/ajmg.c.31615DOI Listing
June 2018

Syndromes associated with holoprosencephaly.

Am J Med Genet C Semin Med Genet 2018 06 17;178(2):229-237. Epub 2018 May 17.

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

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http://dx.doi.org/10.1002/ajmg.c.31620DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6125175PMC
June 2018

Molecular testing in holoprosencephaly.

Am J Med Genet C Semin Med Genet 2018 06 17;178(2):187-193. Epub 2018 May 17.

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

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http://dx.doi.org/10.1002/ajmg.c.31617DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6125165PMC
June 2018

Challenging issues arising in counseling families experiencing holoprosencephaly.

Am J Med Genet C Semin Med Genet 2018 06;178(2):238-245

Human Development Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.c.31627DOI Listing
June 2018

Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly.

Am J Med Genet C Semin Med Genet 2018 06;178(2):175-186

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

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http://dx.doi.org/10.1002/ajmg.c.31622DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6127867PMC
June 2018

Introduction.

Am J Med Genet C Semin Med Genet 2018 06;178(2):113-116

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

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http://dx.doi.org/10.1002/ajmg.c.31626DOI Listing
June 2018

Holoprosencephaly flashcards: An updated summary for the clinician.

Am J Med Genet C Semin Med Genet 2018 06;178(2):117-121

Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.c.31621DOI Listing
June 2018

Williams-Beuren syndrome in diverse populations.

Am J Med Genet A 2018 05;176(5):1128-1136

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

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http://doi.wiley.com/10.1002/ajmg.a.38672
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http://dx.doi.org/10.1002/ajmg.a.38672DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007881PMC
May 2018

Genomics and Epigenomics of Congenital Heart Defects: Expert Review and Lessons Learned in Africa.

OMICS 2018 05;22(5):301-321

1 Division of Human Genetics, Department of Pathology, Faculty of Health Sciences, Institute for Infectious Disease and Molecular Medicine, University of Cape Town , Cape Town, South Africa .

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http://dx.doi.org/10.1089/omi.2018.0033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6016577PMC
May 2018

SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly.

Congenit Anom (Kyoto) 2018 Jan 1;58(1):29-32. Epub 2017 Aug 1.

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

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http://dx.doi.org/10.1111/cga.12234DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5750110PMC
January 2018

Looking back and looking forward.

Mol Genet Genomic Med 2018 01;6(1):3-8

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1002/mgg3.374DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5823684PMC
January 2018

BOC is a modifier gene in holoprosencephaly.

Hum Mutat 2017 11 21;38(11):1464-1470. Epub 2017 Jul 21.

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

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http://dx.doi.org/10.1002/humu.23286DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673120PMC
November 2017

Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease.

Mol Genet Genomic Med 2017 Jul 16;5(4):307-316. Epub 2017 Jul 16.

National Human Genome Research InstituteNational Institutes of HealthBethesdaMaryland.

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http://dx.doi.org/10.1002/mgg3.318DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511798PMC
July 2017

Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn Screening.

J Clin Endocrinol Metab 2017 05;102(5):1529-1537

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

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http://dx.doi.org/10.1210/jc.2016-3414DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5443329PMC
May 2017

Standing on the shoulders of giants.

Am J Med Genet A 2017 01 26;173(1):13-15. Epub 2016 Nov 26.

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

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http://dx.doi.org/10.1002/ajmg.a.38060DOI Listing
January 2017

Neural Plasticity in Obesity and Psychiatric Disorders.

Neural Plast 2016 7;2016:6053871. Epub 2016 Apr 7.

Genomics and Predictive Medicine Group, Department of Genome Sciences, John Curtin School of Medical Research, The Australian National University, Canberra, ACT 2601, Australia.

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http://dx.doi.org/10.1155/2016/6053871DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4838784PMC
December 2016

Retrospective assessment of childhood ADHD symptoms for diagnosis in adults: validity of a short 8-item version of the Wender-Utah Rating Scale.

Atten Defic Hyperact Disord 2016 Dec 10;8(4):215-223. Epub 2016 Aug 10.

John Curtin School of Medical Research, The Australian National University, Building 131, Garran Road, Canberra, ACT, 2601, Australia.

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http://dx.doi.org/10.1007/s12402-016-0202-9DOI Listing
December 2016

Infantile Cirrhosis, Growth Impairment, and Neurodevelopmental Anomalies Associated with Deficiency of PPP1R15B.

J Pediatr 2016 12 15;179:144-149.e2. Epub 2016 Sep 15.

Division of Gastroenterology, Department of Pediatrics, Feinberg School of Medicine of Northwestern University and Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, IL.

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http://dx.doi.org/10.1016/j.jpeds.2016.08.043DOI Listing
December 2016

An Ultraconserved Brain-Specific Enhancer Within ADGRL3 (LPHN3) Underpins Attention-Deficit/Hyperactivity Disorder Susceptibility.

Biol Psychiatry 2016 12 14;80(12):943-954. Epub 2016 Jul 14.

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

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http://dx.doi.org/10.1016/j.biopsych.2016.06.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5108697PMC
December 2016

An electronic atlas of human malformation syndromes in diverse populations.

Genet Med 2016 11 3;18(11):1085-1087. Epub 2016 Mar 3.

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

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http://dx.doi.org/10.1038/gim.2016.3DOI Listing
November 2016

Mentors without Borders.

Mol Genet Genomic Med 2016 Sep 1;4(5):489-93. Epub 2016 Sep 1.

Medical Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda Maryland 20814.

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http://dx.doi.org/10.1002/mgg3.246DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5023933PMC
September 2016

ADGRL3 (LPHN3) variants are associated with a refined phenotype of ADHD in the MTA study.

Mol Genet Genomic Med 2016 Sep 18;4(5):540-7. Epub 2016 Jul 18.

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

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http://dx.doi.org/10.1002/mgg3.230DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5023939PMC
September 2016

Muenke syndrome: An international multicenter natural history study.

Am J Med Genet A 2016 Apr 6;170A(4):918-29. Epub 2016 Jan 6.

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

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http://dx.doi.org/10.1002/ajmg.a.37528DOI Listing
April 2016

Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.

Am J Med Genet A 2015 Nov 6;167A(11):2657-63. Epub 2015 Aug 6.

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

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http://dx.doi.org/10.1002/ajmg.a.37259DOI Listing
November 2015

Foreword to volume 3, issue 6.

Mol Genet Genomic Med 2015 Nov 11;3(6):481-2. Epub 2015 Nov 11.

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http://dx.doi.org/10.1002/mgg3.185DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4694130PMC
November 2015

Expanding the phenotypic expression of Sonic Hedgehog mutations beyond holoprosencephaly.

J Craniofac Surg 2015 Jan;26(1):3-5

From the Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1097/SCS.0000000000001377DOI Listing
January 2015

Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings.

Int J Pediatr Otorhinolaryngol 2014 Dec 28;78(12):2037-47. Epub 2014 Sep 28.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, NIH, MSC 3717, Building 35, Room 1B-207, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ijporl.2014.09.019DOI Listing
December 2014

Noonan syndrome.

Am Fam Physician 2014 Jan;89(1):37-43

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4099190PMC
January 2014

Genetics and genomic medicine around the world.

Mol Genet Genomic Med 2014 Jan 10;2(1):1-2. Epub 2014 Jan 10.

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http://dx.doi.org/10.1002/mgg3.59DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3907914PMC
January 2014

Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism.

Am J Med Genet A 2013 Mar 1;161A(3):453-60. Epub 2013 Feb 1.

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

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http://dx.doi.org/10.1002/ajmg.a.35233DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3581720PMC
March 2013

Symptomatology of autism spectrum disorder in a population with neurofibromatosis type 1.

Dev Med Child Neurol 2013 Feb 16;55(2):131-8. Epub 2012 Nov 16.

The Jennifer and Daniel Gilbert Neurofibromatosis Institute, Washington, DC 20010, USA.

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http://dx.doi.org/10.1111/dmcn.12038DOI Listing
February 2013

Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort.

Birth Defects Res A Clin Mol Teratol 2012 Nov 27;94(11):912-7. Epub 2012 Jul 27.

Molecular Genetics Laboratory and Clinical Genetics Service, Hospital for Rehabilitation and Craniofacial Anomalies, University of Sao Paolo, Bauru, Sao Paolo, Brazil.

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http://dx.doi.org/10.1002/bdra.23047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3501551PMC
November 2012

Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis.

Pediatr Neurol 2012 Nov;47(5):355-61

Clinical Research Training Program, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2012.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4133743PMC
November 2012

When to suspect a genetic syndrome.

Am Fam Physician 2012 Nov;86(9):826-33

National Human Genome Research Institute, Bethesda, MD 20892-3717, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4131944PMC
November 2012

Holoprosencephaly-polydactyly/pseudotrisomy 13: a presentation of two new cases and a review of the literature.

Clin Dysmorphol 2012 Oct;21(4):183-90

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-3717, USA.

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https://insights.ovid.com/crossref?an=00019605-201210000-000
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http://dx.doi.org/10.1097/MCD.0b013e3283551fd0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4131985PMC
October 2012

Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses.

Childs Nerv Syst 2012 Sep 8;28(9):1447-63. Epub 2012 Aug 8.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, NIH, MSC 3717, Building 35, Room 1B-207, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1007/s00381-012-1756-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4101189PMC
September 2012

Phenotype profile of a genetic mouse model for Muenke syndrome.

Childs Nerv Syst 2012 Sep 8;28(9):1483-93. Epub 2012 Aug 8.

Plastic and Reconstructive Surgery, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1007/s00381-012-1778-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4131982PMC
September 2012

Evidence for SHH as a candidate gene for encephalocele.

Clin Dysmorphol 2012 Jul;21(3):148-51

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

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https://insights.ovid.com/crossref?an=00019605-201207000-000
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http://dx.doi.org/10.1097/MCD.0b013e3283518eb0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3366050PMC
July 2012

A common genetic network underlies substance use disorders and disruptive or externalizing disorders.

Hum Genet 2012 Jun 11;131(6):917-29. Epub 2012 Apr 11.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-3717, USA.

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http://link.springer.com/10.1007/s00439-012-1164-4
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http://dx.doi.org/10.1007/s00439-012-1164-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3351604PMC
June 2012

Molecular analysis of the Noggin (NOG) gene in holoprosencephaly patients.

Mol Genet Metab 2012 Jun 21;106(2):241-3. Epub 2012 Mar 21.

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

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http://dx.doi.org/10.1016/j.ymgme.2012.03.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3356444PMC
June 2012

New syndrome of congenital circumferential skin folds associated with multiple congenital anomalies.

Pediatr Dermatol 2012 Jan-Feb;29(1):89-95. Epub 2011 Oct 13.

Schneider Children's Medical Center of Israel and Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel.

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http://dx.doi.org/10.1111/j.1525-1470.2011.01403.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4131925PMC
May 2012

Palatal and oral manifestations of Muenke syndrome (FGFR3-related craniosynostosis).

J Craniofac Surg 2012 May;23(3):664-8

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

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http://dx.doi.org/10.1097/SCS.0b013e31824db8bbDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3361570PMC
May 2012

Patients within the Broad Holoprosencephaly Spectrum have Distinct and Subtle Ophthalmologic Anomalies: Response to Khan.

Am J Med Genet A 2012 May 7;158A(5):1244-1245. Epub 2012 Feb 7.

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

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http://dx.doi.org/10.1002/ajmg.a.35207DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3331949PMC
May 2012

Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactions.

Mol Genet Metab 2012 Apr 12;105(4):658-64. Epub 2012 Jan 12.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-3717, USA.

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http://dx.doi.org/10.1016/j.ymgme.2012.01.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3309119PMC
April 2012

2011 William Allan Award introduction: John M. Opitz.

Am J Hum Genet 2012 Mar;90(3):390-1

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

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http://dx.doi.org/10.1016/j.ajhg.2012.01.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3309199PMC
March 2012

Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH.

Hum Genet 2012 Feb 13;131(2):301-10. Epub 2011 Aug 13.

Medical Genetics Branch, National Human Genome Research Institute (NHGRI), National Institutes of Health, Bethesda, MD 20892-3717, USA.

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http://dx.doi.org/10.1007/s00439-011-1078-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3695622PMC
February 2012

Genetic-environmental interaction in a unique case of Muenke syndrome with intracranial hypertension.

Childs Nerv Syst 2011 Dec 5;27(12):2183-6. Epub 2011 Oct 5.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, MSC 3717, Building 35, Room 1B-207, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1007/s00381-011-1595-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4101181PMC
December 2011

A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.

Am J Med Genet A 2011 Nov 4;155A(11):2713-20. Epub 2011 Oct 4.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20814, USA.

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http://dx.doi.org/10.1002/ajmg.a.34261DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3200498PMC
November 2011

Holoprosencephaly: a guide to diagnosis and clinical management.

Indian Pediatr 2011 Jun;48(6):457-66

HHMI-NIH Research Scholars Program, Howard Hughes Medical Institute, Chevy Chase, MD, United States.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4131946PMC
June 2011

Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2.

Am J Med Genet A 2011 Apr 17;155A(4):860-4. Epub 2011 Mar 17.

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

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http://dx.doi.org/10.1002/ajmg.a.33903DOI Listing
April 2011

Toward a better understanding of ADHD: LPHN3 gene variants and the susceptibility to develop ADHD.

Atten Defic Hyperact Disord 2010 Nov 16;2(3):139-47. Epub 2010 Oct 16.

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1007/s12402-010-0030-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3280610PMC
November 2010