B. Hall

发表

A pattern of craniofacial and limb defects secondary to aberrant tissue bands.

K. Jones, D. W. Smith, A. Ebbin, 1974, The Journal of pediatrics.

Prenatal genetic diagnosis in 3000 amniocenteses.

C. Epstein, M. Golbus, B. Hall, 1979, The New England journal of medicine.

B. Hall, David W. Smith, 1972 .

Prader-Willi syndrome. A resumé of 32 cases including an instance of affected first cousins, one of whom is of normal stature and intelligence.

D. W. Smith, B. Hall, D. W. Smith, 1972, The Journal of pediatrics.

A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies.

David W. Smith, D. W. Smith, M. Cohen, 1973, The Journal of pediatrics.

Hiatus/paraesophageal hernias in neonatal Marfan syndrome.

V. Kriss, S. Parida, B. Hall, 1997, American journal of medical genetics.

A new X‐linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13

C. Schwartz, T. Cox, A. Lin, 2003, American journal of medical genetics. Part A.

Vitamin D-resistant rickets and high fecal endogenous calcium output. A report of two cases.

F. Bronner, B. Hall, D. Macmillan, 1969, The American journal of clinical nutrition.

The Cornelia de Lange syndrome.

D. W. Smith, F. Fraser, H. Pashayan, 1963, Pediatrics.

Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease.

R. Weksberg, G. Rouleau, V. Riccardi, 1996, American journal of human genetics.

Prenatal diagnosis of achondrogenesis.

R. Filly, M. Golbus, B. Hall, 1977, The Journal of pediatrics.

Lethality in Desbuquois dysplasia: three new cases

B. Hall, 2001, Pediatric Radiology.

Coffin-Siris syndrome. Two new cases.

D. W. Smith, G. W. Delavan, B. Hall, 1973, American journal of diseases of children.

Rational approach to pharmacologic reduction of cholesterol levels in children

B. Hall, 1996 .

Association of methotrexate, rheumatoid arthritis and lymphoma: report of 2 cases and literature review.

S. Kingsmore, J. Rice, D. Caldwell, 1992, The Journal of rheumatology.

Older paternal age and fresh gene mutation: data on additional disorders.

K. Jones, D. W. Smith, B. Hall, 1975, The Journal of pediatrics.

Older paternal age and fresh gene mutation: data on additional disorders.

David W. Smith, K. Jones, D. W. Smith, 1975, The Journal of pediatrics.

VATER/VACTERL ASSOCIATION

B. Solomon, B. Hall, 2021 .

The amniotic band disruption complex: timing of amniotic rupture and variable spectra of consequent defects.

K. Jones, D. W. Smith, B. Hall, 1979, Jornal de Pediatria.

Diagnosis and management of infantile marfan syndrome.

F. Bieber, J. Graham, R. Pyeritz, 1990, Pediatrics.

Prenatal diagnosis of congenital anomalies in an intrauterine growth retarded fetus

M. Golbus, R. Creasy, B. Hall, 1976, Human Genetics.

Fibroblast growth factor receptor 2 mutations in Beare–Stevenson cutis gyrata syndrome

M. Bamshad, R. Stevenson, E. Jabs, 1996, Nature Genetics.

Unexpected death and critical illness in Prader–Willi syndrome: Report of ten individuals

E. Zackai, J. Clayton-Smith, D. Stevenson, 2004, American journal of medical genetics. Part A.

Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.

D. Wieczorek, M. Muenke, S. A. Brown, 2001, Human molecular genetics.

Diastrophic dysplasia: extreme variability within a sibship.

B. Hall, 1996, American journal of medical genetics.

A dyadic approach to the delineation of diagnostic entities in clinical genomics.

Marc S. Williams, E. Zackai, C. Haldeman-Englert, 2021, American journal of human genetics.

Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities.

R. Weksberg, C. Moore, C. Stevens, 1997, American journal of medical genetics.

Further delineation of spondylometaphyseal dysplasia with cone‐rod dystrophy

R. Hennekam, C. Hall, I. Russell-Eggitt, 2008, American journal of medical genetics. Part A.

Imipramine treatment of ADHD in a fragile X child.

C. A. Martin, B. Hall, W. Heffron, 1991, Journal of the American Academy of Child and Adolescent Psychiatry.

Preaxial hallucal polydactyly as a marker for diabetic embryopathy.

K. Coleman, J. Graham, L. Hudgins, 2009, Birth defects research. Part A, Clinical and molecular teratology.

Macrocephaly in association with unusual cutaneous angiomatosis.

D. W. Smith, B. Hall, M. Cohen, 1975, The Journal of pediatrics.

DOOR syndrome: Clinical report, literature review and discussion of natural history

M. Golabi, B. Hall, A. James, 2007, American journal of medical genetics. Part A.

Adult height in Noonan syndrome

J. Noonan, R. Raaijmakers, B. Hall, 2003, American journal of medical genetics. Part A.

Ocular manifestations of branchio-oculo-facial syndrome: Report of a novel mutation and review of the literature

F. Alkuraya, M. Al-Dosari, H. Al-Dhibi, 2010, Molecular vision.

Retinal involvement in thoracic-pelvic-phalangeal dystrophy.

L. Bard, B. Hall, P. Bard, 1978, Archives of ophthalmology.

Congenital bowing of the long bones

J. Spranger, B. Hall, 1980, European Journal of Pediatrics.

Campomelic dysplasia. Further elucidation of a distinct entity.

J. Spranger, B. Hall, 1980, American journal of diseases of children.

Familial congenital bowing with short bones.

J. Spranger, B. Hall, 1979, Radiology.

Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease.

R. Stevenson, A. Srivastava, J. Spranger, 2000, American journal of medical genetics.

The Potter sequence: a clinical analysis of 80 cases.

C. Curry, B. Hall, J. Holland, 1984, American journal of medical genetics.

Parietal foramina clavicular hypoplasia. An autosomal dominant syndrome.

J. Carey, M. Golabi, B. Hall, 1984, American journal of diseases of children.

A new case of a LUMBAR syndrome

M. Golabi, L. Lee, B. Hall, 2014, American journal of medical genetics. Part A.

Macrocephaly in association cutaneous angiomatosis with unusual

B. Hall, David W. Smith, M. Stephan, 1975 .

Brief clinical report: a new syndrome of hemangiomatous branchial clefts, lip pseudoclefts, and unusual facial appearance.

J. Opitz, B. Hall, A. Delorimier, 1983, American journal of medical genetics.

Expanded phenotype and ethnicity in Setleis syndrome.

R. Clark, M. Golabi, S. Seto, 1989, American journal of medical genetics.

Elements of morphology: Standard terminology for the periorbital region

J. Opitz, J. Graham, S. Cassidy, 2009, American journal of medical genetics. Part A.

Ectodermal dysplasia and multiple defects (Rapp-Hodgkins type).

B. Hall, N. Wannarachue, D. W. Smith, 1972, The Journal of pediatrics.

X-linked mental retardation with variable stature, head circumference, and testicular volume linked to Xq12-q21.

R. Stevenson, C. Schwartz, H. Lubs, 1999, American journal of medical genetics.

Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance.

A. Verloes, A. Aeby, A. García-Alix, 1999, American journal of medical genetics.

Prenatal diagnosis of dysplastic kidney disease *

R. Filly, M. Golbus, J. Bartley, 1977, Clinical genetics.

Cooccurrence of collagenous colitis with seronegative spondyloarthropathy: report of a case and literature review.

J. Wilson, M. Gottfried, N. Allen, 1993, The Journal of rheumatology.

Incidence of fibrocystic disease in Wessex.

B. Hall, M. Simpkiss, 1968, Journal of medical genetics.

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

Yves Moreau, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, 2012, Nature Genetics.

CHARGE Association: An Update and Review for the Primary Pediatrician

Marc S. Williams, J. Graham, R. Pagon, 1998, Clinical pediatrics.

Nonchromosomal malformations and syndromes associated with stillbirth.

B. Hall, 1987, Clinical obstetrics and gynecology.

The Aarskog syndrome.

David W. Smith, C. T. Furukawa, B. Hall, 1972, The Journal of pediatrics.

Further delineation of Kabuki syndrome in 48 well‐defined new individuals

Marc S. Williams, E. Zackai, R. Hennekam, 2005, American journal of medical genetics. Part A.

The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3.

A. Hamosh, H. Dietz, D. Meyers, 1991, Genomics.

Partial trisomy for the distal long arm of chromosome 5 (region q34→qter). A new clinically recognizable syndrome

C. Epstein, U. Francke, C. Curry, 1979 .

An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiology

B. Graham, D. Weaver, B. Karmazyn, 2020, American journal of medical genetics. Part A.

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

I. Krantz, H. Hakonarson, E. Roeder, 2014, Human molecular genetics.

Endocrine abnormalities in townes–brocks syndrome

J. Hartsfield, B. Hall, Irene Hong-McAtee, 2013, American journal of medical genetics. Part A.

Syndrome of microcephaly, facial and hand abnormalities, tracheoesophageal fistula, duodenal atresia, and developmental delay.

Y. Lacassie, M. Feingold, B. Hall, 1997, American journal of medical genetics.

Penoscrotal transposition and associated anomalies: report of five new cases and review of the literature.

A. Fujimoto, L. Barton, S. Parida, 1995, American journal of medical genetics.

Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay

L. Hudgins, S. Aradhya, D. Stockton, 2012, American journal of medical genetics. Part A.

Vaginal evisceration during coitus: a case review.

J. Phelan, D. Gallup, B. Hall, 1978, American journal of obstetrics and gynecology.

Phakomatosis pigmentovascularis: Implications for severity with special reference to Mongolian spots associated with Sturge–Weber and Klippel–Trenaunay syndromes

Shannon Morrill-Cornelius, B. Hall, C. Bay, 2007, American journal of medical genetics. Part A.

Invited comment on Arnold et al., “Documentation of anomalies not previously described in Fryns syndrome”

B. Hall, 2003 .

The malformed fetus and stillbirth

B. Hall, 1989 .

Intestinal hemangiomas and Maffucci's syndrome.

B. Hall, 1972, Archives of dermatology.

Vox Paed

B. Hall, 1967 .

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features

D. Sillence, S. Robertson, A. Mégarbané, 2010, American journal of medical genetics. Part A.

Choanal atresia and associated multiple anomalies.

B. Hall, 1979, The Journal of pediatrics.

Beare-Stevenson cutis gyrata syndrome.

C. Morris, M. Golabi, M. Cohen, 1992, American journal of medical genetics.

Unilateral hyperlucent lung syndrome

B. Hall, David W. Smith, 1971 .

A new X-linked multiple congenital anomalies/mental retardation syndrome.

M. Golabi, B. Hall, M. Ito, 1984, American journal of medical genetics.

Grade 1 microtia, wide anterior fontanel and novel type tracheo‐esophageal fistula in methimazole embryopathy

K. Gripp, A. Schneider, M. Antunes, 2011, American journal of medical genetics. Part A.

Response to central flaring of eyebrow by Mohrenschlager et al.

B. Hall, Raoul C.M. Hennekam, 2010 .

Neurosonographic diagnosis of thalamic/basal ganglia vasculopathy in trisomy 13--an important diagnostic aid.

T. Pauly, V. Kriss, B. Hall, 1997, American journal of medical genetics.

Normal intelligence in two children with Carpenter syndrome.

W. Hoyt, A. Rosenbloom, J. Frías, 1978, American journal of medical genetics.

Pleiotropy in Coffin-Lowry syndrome: sensorineural hearing deficit and premature tooth loss as early manifestations.

B. Kousseff, B D Hall, J K Hartsfield, 1993, American journal of medical genetics.

Extensive mongolian spots in an infant with Hurler syndrome.

B. Hall, J. Beard, F. de Castro, 1998, Archives of dermatology.

Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: report of five new cases and review.

E. Pivnick, J. Ward, G. Burghen, 2000, American journal of medical genetics.

Polydactyly, conical teeth, nail dysplasia, and short limbs: a new autosomal dominant malformation syndrome.

C. Curry, B. Hall, 1979, Birth defects original article series.

New perspectives on the face in fetal alcohol syndrome: what anthropometry tells us.

C. Morris, E. Moore, R. Ward, 2002, American journal of medical genetics.

Bifid tongue: A rare feature associated with infants of diabetic mother syndrome

A. James, M. Golabi, B. Hall, 2007, American journal of medical genetics. Part A.

PRENATAL ULTRASOUND FINDINGS IN HYDROLETHALUS: CONTINUING DIFFICULTIES IN DIAGNOSIS

J. Yankowitz, W. Rhead, A. Kanis, 1996, Prenatal diagnosis.

Meier-Gorlin syndrome: report of eight additional cases and review.

J. Opitz, E. Bongers, R. Hennekam, 2001, American journal of medical genetics.

Tetraploidy in a liveborn infant.

M. Golbus, R. Bachman, B. Hall, 1976, Journal of medical genetics.

Approach to skeletal dysplasia.

B. Hall, 1992, Pediatric clinics of North America.

Hypochondroplasia: clinical and radiological aspects in 39 cases.

J. Spranger, B. Hall, 1979, Radiology.

Acromelic frontonasal dysostosis.

D. K. Williams, R. Winter, F. Goodman, 1999, American journal of medical genetics.

Vascular abnormalities at the site of limb deficiency.

B. Hall, 1992, American journal of medical genetics.

7q deletion syndrome (7q32 leads to 7qter).

M. Seashore, E. Harris, W. R. Breg, 1977, Clinical genetics.

The subtle facial signs of prenatal exposure to alcohol: an anthropometric approach.

R E Ward, C A Morris, C. Morris, 2001, The Journal of pediatrics.

Hallermann-Streiff syndrome with Coats disease.

B. Hall, S. Newell, E. Lim, 1994, Journal of pediatric ophthalmology and strabismus.

Phakomatosis pigmentovascularis: Implications for severity with special reference to Mongolian spots associated with Sturge–Weber and Klippel–Trenaunay syndromes

Shannon Morrill-Cornelius, B. Hall, C. Bay, 2008 .

Petty syndrome and Fontaine–Farriaux syndrome: Delineation of a single syndrome

B. Paschal, Chun-song Yang, S. Braddock, 2010, American journal of medical genetics. Part A.

Do some patients with Seckel syndrome have hematological problems and/or chromosome breakage?

M. Butler, B. Hall, C. Lozzio, 1987, American journal of medical genetics.

Presentation of multicentric Castleman's disease with sicca syndrome, cardiomyopathy, palmar and plantar rash.

L. Cripe, B. Hall, S. Kingsmore, 1993, The Journal of rheumatology.

Recurrence risk in de novo 21q21q translocation Down syndrome.

B. Hall, 1985, American journal of medical genetics.

Mosaic tetrasomy 21 is mosaic tetrasomy 12p some of the time

B. Hall, 1985, Clinical genetics.

Partial trisomy for the distal long arm of chromosome 5 (region q34 leads to qter). A new clinically recognizable syndrome.

C. Epstein, U. Francke, C. Curry, 1979, Clinical Genetics.

Thumb Polydactyly as a Part of the Range of Genetic Expression for Thenar Hypoplasia

J. Graham, F. Brown, B. Hall, 1987, Clinical pediatrics.

X‐linked cubitus valgus with mental retardation and typical face

K. Kosaki, B. Hall, K. L. Jones, 2003, American journal of medical genetics. Part A.

Tarsal and carpal coalition and symphalangism of the Fuhrmann type. Report of a family.

B. Hall, D. B. Stevens, J. Drawbert, 1985, The Journal of bone and joint surgery. American volume.

Photoanthropometric study of craniofacial traits of individuals with Prader-Willi syndrome.

M. Butler, G. Levine, S. Cassidy, 1995, American journal of medical genetics.

Nager acrofacial dysostosis: autosomal dominant inheritance in mild to moderately affected mother and lethally affected phocomelic son.

B. Hall, 1989, American journal of medical genetics.

Nager acrofacial dysostosis: early intervention and long-term planning.

M. D. Meyerson, B. Hall, K. M. Jensen, 1977, The Cleft palate journal.

The center-satellite system for the wide-scale distribution of genetic counseling services.

C. Epstein, R. Erickson, M. Golbus, 1975, American journal of human genetics.

Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred.

H. Dietz, R. Pyeritz, C. Francomano, 1994, Human Molecular Genetics.

Warfarin embryopathy and urinary tract anomalies: possible new association.

B. Hall, 1989, American journal of medical genetics.

Kleeblattschädel (cloverleaf) syndrome: severe form of Crouzon's disease?

B. Hall, J. G. Shiller, D. W. Smith, 1972, The Journal of pediatrics.

Humero-spinal dysostosis: report of the fourth case with emphasis on generalized skeletal involvement, abnormal craniofacial features, and mitral valve thickening.

B. Hall, 1997, Journal of pediatric orthopedics. Part B.

The Coffin-Siris syndrome: five new cases including two siblings.

J. Carey, B. D. Hall, B. Hall, 1978, American journal of diseases of children.

Coffin-Siris syndrome. Two new cases.

G. W. Delavan, B. Hall, W. Weiswasser, 1973, American journal of diseases of children.

Femoral hypoplasia--unusual facies syndrome.

C. Scott, B. Hall, D. Daentl, 1975, The Journal of pediatrics.

Femoral hypoplasia — unusual facies syndrome

R. Winter, J. Burn, J. Fixsen, 1975 .

Iris coloboma, ptosis, hypertelorism, and mental retardation.

B. Hall, 1989, Journal of medical genetics.

Secondary adrenal insufficiency manifested as an acute febrile illness.

A. Verghese, J. Soto-Hernández, B. Hall, 1989, Southern medical journal.

Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): clinical and radiological findings in a Guatemalan patient.

B. Hall, J. M. Bradburn, 1995, American journal of medical genetics.

Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality.

J. Opitz, J. Allanson, R. Pagon, 1987, American journal of medical genetics.

Brief clinical report: a new syndrome of hemangiomatous branchial clefts, lip pseudoclefts, and unusual facial appearance.

A. Delorimier, B. Hall, L. Foster, 1983, American journal of medical genetics.

Costello syndrome: phenotype, natural history, differential diagnosis, and possible cause.

J. Carey, M. Golabi, M. Norton, 1998, The Journal of pediatrics.