Maximilian Muenke

Maximilian Muenke

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Maximilian Muenke

Maximilian Muenke

Publications by authors named "Maximilian Muenke"

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Generation of human induced pluripotent stem cell line (NIDCRi001-A) from a Muenke syndrome patient with an FGFR3 p.Pro250Arg mutation.

Stem Cell Res 2020 07 19;46:101823. Epub 2020 May 19.

Skeletal Biology Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2020.101823DOI Listing
July 2020

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

Am J Hum Genet 2020 Jul 17;107(1):164-172. Epub 2020 Jun 17.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2020.05.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7332645PMC
July 2020

Love in the time of COVID-19.

Am J Med Genet A 2020 06 19;182(6):1299-1301. Epub 2020 May 19.

American College of Medical Genetics and Genomics, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.61623DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7276842PMC
June 2020

Prenatal exposure to pesticides and risk for holoprosencephaly: a case-control study.

Environ Health 2020 Jun 8;19(1):65. Epub 2020 Jun 8.

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

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http://dx.doi.org/10.1186/s12940-020-00611-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7278164PMC
June 2020

Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.

Bone 2020 Apr 7;133:115219. Epub 2020 Jan 7.

Department of Pediatric Genetics, Akdeniz University Medical School, 07059 Antalya, Turkey; 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.bone.2019.115219DOI Listing
April 2020

Comorbidity of congenital heart defects and holoprosencephaly is likely genetically driven and gene-specific.

Am J Med Genet C Semin Med Genet 2020 03 5;184(1):154-158. Epub 2020 Feb 5.

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

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http://dx.doi.org/10.1002/ajmg.c.31770DOI Listing
March 2020

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

Eur J Med Genet 2020 Feb 25;63(2):103643. 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
February 2020

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.

Am J Hum Genet 2020 01 26;106(1):121-128. Epub 2019 Dec 26.

The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, M5G 1X5, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, M5G 1X8, Canada.

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http://dx.doi.org/10.1016/j.ajhg.2019.12.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042489PMC
January 2020

Diversity and dysmorphology.

Curr Opin Pediatr 2019 12;31(6):702-707

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
December 2019

Circle of Willis anomalies in Turner syndrome: Absent A1 segment of the anterior cerebral artery.

Birth Defects Res 2019 11 18;111(19):1584-1588. Epub 2019 Oct 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/bdr2.1609DOI Listing
November 2019

Novel heterozygous variants in KMT2D associated with holoprosencephaly.

Clin Genet 2019 09 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 08 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 08 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 07 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

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

Am J Hum Genet 2019 05 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

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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7255818PMC
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

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