B. Pober

发表

Discriminating power of localized three-dimensional facial morphology.

A. Karmiloff-Smith, B. Buxton, P. Scambler, 2005, American journal of human genetics.

Williams-Beuren syndrome.

B. Pober, 2010, The New England journal of medicine.

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

Jeffrey C. Murray, Michael J. Dixon, Andrew C. Lidral, 2002, Nature Genetics.

Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management

E. Zackai, C. Morris, A. Rope, 2008, Genetics in Medicine.

Williams syndrome: a multidisciplinary approach to care.

B. Pober, Jessica L. Waxler, K. Levine, 2009, Pediatric annals.

A defect in the transport of long-chain fatty acids associated with acute liver failure.

F. Suchy, A. Friedman, M. Bennett, 1998, The New England journal of medicine.

Maternal periconceptional exposure to cigarette smoking and alcohol consumption and congenital diaphragmatic hernia.

S. Rasmussen, B. Pober, P. Romitti, 2010, Birth defects research. Part A, Clinical and molecular teratology.

Nutrient intakes in women and congenital diaphragmatic hernia in their offspring.

G. Shaw, S. Rasmussen, S. Carmichael, 2008, Birth defects research. Part A, Clinical and molecular teratology.

Cardiovascular malformations in Fryns syndrome: Is there a pathogenic role for neural crest cells?

A. Lin, A. Slavotinek, B. Pober, 2005, American journal of medical genetics. Part A.

Reporting accuracy among mothers of malformed and nonmalformed infants.

M. Werler, L. Holmes, B. Pober, 1989, American journal of epidemiology.

REPORTING ACCURACY AMONG MOTHERS OF MALFORMED AND NONMALFORMIED INFANTS

M. Werler, L. Holmes, B. Pober, 1989 .

A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis.

B. Pober, M. Longoni, K. Noonan, 2009, Birth defects research. Clinical and molecular teratology.

Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia

L. Kaczmarek, L. Ment, F. Hisama, 2006, Neurogenetics.

Rapamycin Inhibits Smooth Muscle Cell Proliferation and Obstructive Arteriopathy Attributable to Elastin Deficiency

M. Tassabehji, W. Sessa, G. Tellides, 2013, Arteriosclerosis, thrombosis, and vascular biology.

Deletions of Xp provide evidence for the role of holocytochrome C‐type synthase (HCCS) in congenital diaphragmatic hernia

S. Cheung, L. Immken, B. Pober, 2010, American journal of medical genetics. Part A.

Accuracy of fetal echocardiography.

S. Sanders, B. Pober, B. Benacerraf, 1987, Radiology.

Congenital Diaphragmatic Defects: Proposal for a New Classification Based on Observations in 234 Patients

K. Ackerman, B. Pober, H. Kozakewich, 2012, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.

J. Mendell, T. Sasaki, O. Suchowersky, 2001, American journal of medical genetics.

Social, neurodevelopmental, endocrine, and head size differences associated with atypical deletions in Williams–Beuren syndrome

B. Pober, B. Kozel, Michael Lugo, 2020, American journal of medical genetics. Part A.

Early puberty in Williams syndrome.

B. Pober, L. Sadler, T. Carpenter, 1999, Clinical dysmorphology.

Renal findings in 40 individuals with Williams syndrome.

B. Pober, V. Mandell, R. Lacro, 1993, American journal of medical genetics.

Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH

B. Pober, 2007, American journal of medical genetics. Part C, Seminars in medical genetics.

Donnai–Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy

P. Donahoe, N. S. Thomas, S. Kantarci, 2008, American journal of medical genetics. Part A.

Functional Analysis of a Novel Potassium Channel (KCNA1) Mutation in Hereditary Mokymia

L. Kaczmarek, L. Ment, F. Hisama, 2007 .

Pathway analysis identifies novel non-synonymous variants contributing to extreme vascular outcomes in Williams-Beuren syndrome

Dong Liu, C. Morris, R. Knutsen, 2022, medRxiv.

Pulmonary function and emphysema in Williams–Beuren syndrome

G. Washko, E. Silverman, E. Wan, 2010, American journal of medical genetics. Part A.

A new diagnosis of Williams–Beuren syndrome in a 49‐year‐old man with severe bullous emphysema

F. Bieber, M. Wojcik, B. Raby, 2017, American journal of medical genetics. Part A.

Phenotypic heterogeneity of spinal muscular atrophy mapping to chromosome 5q11.2‐13.3 (SMA 5q)

T. Gilliam, K. Davies, B. Korf, 1990, Neurology.

Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome.

B. Pober, Z. Urban, Mark Johnson, 2008, The Journal of clinical investigation.

Mild macrocytosis in Williams-Beuren syndrome.

R. Feinn, B. Pober, B. Kozel, 2020, European journal of medical genetics.

Skin findings in Williams syndrome

R. Knutsen, B. Pober, B. Kozel, 2014, American journal of medical genetics. Part A.

Frequency of QTc Interval Prolongation in Children and Adults with Williams Syndrome

R. Feinn, R. Lampert, B. Pober, 2022, Pediatric Cardiology.

Fog 2 is required for normal diaphragm and lung development in mice and humans

Randal P. Babiuk, J. Greer, J. Epstein, 2005 .

Donnai-Barrow syndrome

S. Kantarci, D. Donnai, B. Pober, 2011 .

Genetics of childhood disorders: XXVII. Genes and cognition in Williams syndrome.

P. Lombroso, B. Pober, L. Osborne, 2001, Journal of the American Academy of Child and Adolescent Psychiatry.

Differences by sex in cardiovascular disease in Williams syndrome.

A. Grandinetti, B. Pober, G. Fekete, 2001, The Journal of pediatrics.

Deletion of chromosome 2q24-q31 causes characteristic digital anomalies: case report and review.

R. Boles, T. Yang-Feng, J. McGrath, 1995, American journal of medical genetics.

Hypercalcemia in Patients with Williams-Beuren Syndrome.

D. Dietzen, B. Pober, B. Kozel, 2016, The Journal of pediatrics.

Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME).

F. Vitelli, A. Malandrini, A. Renieri, 1999, Genomics.

Genetics of childhood disorders: XXVI. Williams syndrome and brain-behavior relationships.

R. Schultz, D. Grelotti, B. Pober, 2001, Journal of the American Academy of Child and Adolescent Psychiatry.

Ischemic stroke and intracranial multifocal cerebral arteriopathy in Williams syndrome.

B. Shaywitz, I. Awad, P. Fayad, 1995, The Journal of pediatrics.

Attention Bias to Emotional Faces Varies by IQ and Anxiety in Williams Syndrome

Joyce M. Oates, C. McDougle, J. Smoller, 2016, Journal of Autism and Developmental Disorders.

Antenatal sonographic findings in trisomy 18.

P. Doubilet, D. Saltzman, B. Pober, 1986, Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine.

Williams syndrome--oral presentation of 45 cases.

B. Pober, H. Needleman, J. Hertzberg, 1994, Pediatric dentistry.

Smoking and pregnancy.

M. Werler, L. Holmes, B. Pober, 1985, Teratology.

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.

C Eng, K. Lunetta, C. Romano, 1999, Human molecular genetics.

KCNE1-like gene is deleted in AMME contiguous gene syndrome: identification and characterization of the human and mouse homologs.

F. Vitelli, S. Banfi, A. Renieri, 1999, Genomics.

Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?

A Ballabio, A. Ballabio, F. Vitelli, 1998, Journal of medical genetics.

FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation.

G. Borsani, A. Ballabio, F. Vitelli, 1998, Genomics.

Missense variants affecting the actin-binding domains of PLS3 cause X-linked congenital diaphragmatic hernia and body wall defects

C. Bult, P. Donahoe, P. Giampietro, 2021, medRxiv.

Congenital Diaphragmatic Hernia Overview

K. Ackerman, B. Pober, M. Russell, 2010 .

Congenital diaphragmatic hernia and associated cardiovascular malformations: Type, frequency, and impact on management

A. Lin, B. Pober, I. Adatia, 2007, American journal of medical genetics. Part C, Seminars in medical genetics.

Fog2 Is Required for Normal Diaphragm and Lung Development in Mice and Humans

Randal P. Babiuk, J. Greer, J. Epstein, 2005, PLoS genetics.

Growth, body composition, and endocrine issues in Williams syndrome.

T. Stanley, A. Leong, B. Pober, 2020, Current opinion in endocrinology, diabetes, and obesity.

High prevalence of diabetes and pre‐diabetes in adults with Williams syndrome

B. Gulanski, S. Caprio, T. Stanley, 2010, American journal of medical genetics. Part C, Seminars in medical genetics.

Medical overview and genetics of Williams-Beuren syndrome

R. Schultz, C. Klaiman, L. Smoot, 2005 .

Clinical Genetic Testing Options

B. Pober, D. Renzi, 2020 .

Williams Syndrome: An Overview of Medical, Cognitive, and Behavioral Features

B. Pober, E. Dykens, 1996 .

Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Fryns syndrome

P. Donahoe, L. Holmes, C. Lee, 2006, American journal of medical genetics. Part A.

Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes

C. Bult, K. Lage, P. Donahoe, 2012, Proceedings of the National Academy of Sciences.

Truncating mutations in FOXC2 cause multiple lymphedema syndromes.

R. Ferrell, D. Finegold, B. Pober, 2001, Human molecular genetics.

Fetal stroke.

L. Ment, P. Barnes, C. Duncan, 2004, Pediatric neurology.

GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease.

S. Garrett, M. Brueckner, A. Hing, 1999, American journal of medical genetics.

Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR)

F. Vitelli, G. Rizzoni, A. Renieri, 2002, Journal of medical genetics.

Williams syndrome

B. Barak, C. Mervis, M. Porter, 2020, Nature Reviews Disease Primers.

Human Chromosome 7: DNA Sequence and Biology

Junjun Zhang, Nazneen Rahman, Alexander K. Hudek, 2003, Science.

Molecular Genetics of Congenital Diaphragmatic Hernia

B. Pober, M. Longoni, M. Russell, 2014 .

Multisystem study of 20 older adults with Williams syndrome

J. Bregman, R. Schultz, C. Klaiman, 2004, American journal of medical genetics. Part A.

Familial dup(5)(q15q21) associated with normal and abnormal phenotypes.

T. Yang-Feng, B. Pober, S. Li, 1998, American journal of medical genetics.

Karyotype–phenotype insights from 11q14.1‐q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement

M. Qumsiyeh, A. Szekely, Jingwei Yu, 2006, American journal of medical genetics. Part A.

FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6

M. Qumsiyeh, B. Pober, Peining Li, 2004, American journal of medical genetics. Part A.

Infants with Bochdalek diaphragmatic hernia: Sibling precurrence and monozygotic twin discordance in a hospital‐based malformation surveillance program

P. Donahoe, M. Westgate, A. Lin, 2005, American journal of medical genetics. Part A.

Type III tracheal agenesis with familial tetralogy of Fallot and absent pulmonary valve syndrome.

L. Holmes, B. Pober, K. Hirt-Armon, 1996, American journal of medical genetics.

Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH

Sibel Kantarci, Carrie Sougnez, Eli Hatchwell, 2010, American journal of medical genetics. Part A.

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

Dian Donnai, Graeme C.M. Black, Nicolas Chassaing, 2007, Nature Genetics.

Congenital diaphragmatic hernia and pulmonary hypoplasia: New insights from developmental biology and genetics

K. Ackerman, B. Pober, 2007, American journal of medical genetics. Part C, Seminars in medical genetics.

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

J. Ragoussis, S. Knight, H. Brunner, 2013, Human molecular genetics.

Pulmonary hypoplasia and persistent pulmonary hypertension in the newborn with homozygous α-thalassemia: a case report and review of the literature

V. Bhandari, J. Copel, B. Pober, 2003, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia

K. Lage, P. Donahoe, A. Kashani, 2015, Clinical genetics.

Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics

C. Bult, K. Lage, P. Donahoe, 2014, Proceedings of the National Academy of Sciences.

Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai‐Barrow syndrome

G. Valle, F. Anglani, V. Cantaluppi, 2018, Clinical genetics.

Isolated congenital renal tubular immaturity in siblings.

B. Pober, S. Driscoll, J. Lage, 1986, Human pathology.

Association of Chiari I malformation and Williams syndrome.

B. Pober, J. Filiano, 1995, Pediatric neurology.

46,XX gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters.

F. Hisama, B. Pober, G. D. Vladutiu, 2001, American journal of medical genetics.

The proceedings of the 15th professional conference on Williams Syndrome

J. Walton, B. Pober, Marilee Martens, 2017, American journal of medical genetics. Part A.

Deletion of 7q11.23 Genes and Williams Syndrome

A. Galaburda, U. Bellugi, C. Epstein, 2008 .

Altered body composition, lipedema, and decreased bone density in individuals with Williams syndrome: A preliminary report.

R. Feinn, Hang Lee, T. Stanley, 2017, European journal of medical genetics.

Description of common musculoskeletal findings in Williams Syndrome and implications for therapies

L. Copes, B. Pober, C. Terilli, 2016, Clinical anatomy.

N-Acetylcysteine for Neuropsychiatric Symptoms in a Woman With Williams Syndrome

C. McDougle, B. Pober, Jessica L. Waxler, 2014, Journal of child neurology.

Medical Progress Williams – Beuren Syndrome

B. Pober, 2010 .

Diagnosis and management of medical problems in adults with Williams–Beuren syndrome

C. Morris, B. Pober, 2007, American journal of medical genetics. Part C, Seminars in medical genetics.

Neurologic Findings in Children and Adults With Williams Syndrome

A. du Plessis, B. Pober, C. Chapman, 1996, Journal of child neurology.

The neuropathology of Williams syndrome. Report of a 35-year-old man with presenile beta/A4 amyloid plaques and neurofibrillary tangles.

B. Hyman, J. Golden, G. Nielsen, 1995, Archives of neurology.

A de novo satellited short arm of the Y chromosome possibly resulting from an unstable translocation

T. Yang-Feng, B. Pober, Chen-Li Lin, 1995, Human Genetics.

Buspirone for the Treatment of Generalized Anxiety Disorder in Williams Syndrome: A Case Series

C. McDougle, B. Pober, R. Thom, 2019, Journal of Autism and Developmental Disorders.

Buspirone for the Treatment of Generalized Anxiety Disorder in Williams Syndrome: A Case Series

C. McDougle, B. Pober, R. Thom, 2019, Journal of autism and developmental disorders.

Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks

E. Zackai, K. Lage, P. Donahoe, 2012, American journal of medical genetics. Part A.

Genetic Counseling as a Tool for Type 2 Diabetes Prevention: A Genetic Counseling Framework for Common Polygenetic Disorders

J. Florez, J. Meigs, R. Grant, 2012, Journal of Genetic Counseling.

Williams Syndrome Predisposes to Vascular Stiffness Modified by Antihypertensive Use and Copy Number Changes in NCF1

L. de las Fuentes, R. Knutsen, B. Pober, 2014, Hypertension.

Functional Neurological Symptom Disorder in Williams Syndrome: Case series and Review of Relevant Literature.

C. McDougle, B. Pober, R. Thom, 2021, Journal of the Academy of Consultation-Liaison Psychiatry.

Complexities of intraventricular abnormalities.

L. Holmes, B. Pober, M. Greene, 1986, The Journal of pediatrics.

Attention Bias to Emotional Faces Varies by IQ and Anxiety in Williams Syndrome

Joyce M. Oates, C. McDougle, J. Smoller, 2016, Journal of autism and developmental disorders.

Repetitive Thoughts and Repetitive Behaviors in Williams Syndrome

C. McDougle, C. Ravichandran, B. Pober, 2021, Journal of Autism and Developmental Disorders.

Repetitive Thoughts and Repetitive Behaviors in Williams Syndrome

C. McDougle, C. Ravichandran, B. Pober, 2021, Journal of Autism and Developmental Disorders.

Hearing from parents: The impact of receiving the diagnosis of Williams syndrome in their child

P. Herd, B. Pober, Jessica L. Waxler, 2013, American journal of medical genetics. Part A.

Glucose and lipid metabolism, bone density, and body composition in individuals with Williams syndrome

Hang Lee, T. Stanley, B. Pober, 2018, Clinical endocrinology.

Sonography of Nager acrofacial dysostosis syndrome in utero.

P. Doubilet, C. Benson, B. Pober, 1988, Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine.

Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome.

S. Scherer, L. Tsui, B. Pober, 1997, American journal of human genetics.

Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients.

S. Scherer, H. Heng, L. Tsui, 1996, Genomics.

Elevated ambulatory blood pressure in 20 subjects with Williams syndrome.

W. Tamborlane, R. Lifton, E. Reinhardt, 1999, American journal of medical genetics.

Williams-Beuren syndrome.

B. Pober, 2010, The New England journal of medicine.

Diversity of Participants in Williams Syndrome Intervention Studies.

C. McDougle, C. Ravichandran, B. Pober, 2023, Journal of Autism and Developmental Disorders.

Psychopharmacology of Williams syndrome: safety, tolerability, and effectiveness

C. McDougle, B. Pober, R. Thom, 2020, Expert opinion on drug safety.

Brief Report: Major Depressive Disorder with Psychotic Features in Williams Syndrome: A Case Series

C. McDougle, B. Pober, Jessica L. Waxler, 2018, Journal of autism and developmental disorders.

Attention Bias to Emotional Faces Varies by IQ and Anxiety in Williams Syndrome

Joyce M. Oates, C. McDougle, J. Smoller, 2016, Journal of Autism and Developmental Disorders.

Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes

C. Bult, K. Lage, P. Donahoe, 2012, Proceedings of the National Academy of Sciences.

Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia

K. Darvishi, B. Pober, M. Loscertales, 2015, Clinical genetics.

Williams syndrome

B. Barak, C. Mervis, M. Porter, 2021, Nature Reviews Disease Primers.

Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome.

C. Mervis, M. Digilio, G. Merla, 2024, Journal of the American Heart Association.