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Jan Friedman

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Erica Tsang; Laura Arbour; Patrice Eydoux; Jan M Friedman; Sylvie Langlois; Marco Marra; Barbara C McGillivray; Rosemarie Rupps; Farah Zahir
Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome.
Anne Townsend; Shelin Adam; Patricia H Birch; Zoe Lohn; Francois Rousseau; Jan M Friedman
"I want to know what's in Pandora's Box": comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing.
Jan M Friedman
ABCDXXX: The obscenity of postmarketing surveillance for teratogenic effects.

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All Publications

2012: Erica Tsang; Laura Arbour; Patrice Eydoux; Jan M Friedman; Sylvie Langlois; Marco Marra; Barbara C McGillivray; Rosemarie Rupps; Farah Zahir
Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome.
American journal of medical genetics. Part A 2012;158A(10):2606-9.
2012: Anne Townsend; Shelin Adam; Patricia H Birch; Zoe Lohn; Francois Rousseau; Jan M Friedman
"I want to know what's in Pandora's Box": comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing.
American journal of medical genetics. Part A 2012;158A(10):2519-25.
2012: Jan M Friedman
ABCDXXX: The obscenity of postmarketing surveillance for teratogenic effects.
Birth defects research. Part A, Clinical and molecular teratology 2012;94(8):670-6.
2012: Yvonne Bombard; Joan L Bottorff; Susan Creighton; Jan M Friedman; Michael R Hayden; JoAnne Palin; Gerry Veenstra
Beyond the patient: the broader impact of genetic discrimination among individuals at risk of Huntington disease.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2012;159B(2):217-26.
2011: Tracy Tucker; Juergen Vielkind; Janine Wechsler; Pierre Wolkenstein; Carolyn Brown; John Fee; Vincent M Riccardi; Margaret Sutcliffe; Jan M Friedman
S100B and neurofibromin immunostaining and X-inactivation patterns of laser-microdissected cells indicate a multicellular origin of some NF1-associated neurofibromas.
Journal of neuroscience research 2011;89(9):1451-60.
2011: Tracy Tucker; Vincent M Riccardi; Margaret Sutcliffe; Juergen Vielkind; Janine Wechsler; Pierre Wolkenstein; Jan M Friedman
Different patterns of mast cells distinguish diffuse from encapsulated neurofibromas in patients with neurofibromatosis 1.
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2011;59(6):584-90.
2011: Cheryl S Broussard; Sonja A Rasmussen; Jennita Reefhuis; Jan M Friedman; Michael W Jann; Tiffany Riehle-Colarusso; Margaret Honein
Maternal treatment with opioid analgesics and risk for birth defects.
American journal of obstetrics and gynecology 2011;204(4):314.e1-11.
2011: Matt Smith; Manraj K S Heran; Mary B Connolly; Harindar K Heran; Jan M Friedman; Kimberly Jett; Christopher J Lyons; Paul Steinbok; Linlea Armstrong
Cerebrovasculopathy in NF1 associated with ocular and scalp defects.
American journal of medical genetics. Part A 2011;155A(2):380-5.
2011: Sura Alwan; Jennita Reefhuis; Sonja A Rasmussen; Jan M Friedman
Patterns of antidepressant medication use among pregnant women in a United States population.
Journal of clinical pharmacology 2011;51(2):264-70.
2011: Tracy Tucker; Alexandre Montpetit; David Chai; Susanna Chan; Sebastien Chenier; Bradley P Coe; Allen Delaney; Patrice Eydoux; Wan L Lam; Sylvie Langlois; Emmanuelle Lemyre; Marco Marra; Hong Qian; Guy Rouleau; David Vincent; Jacques L Michaud; Jan M Friedman
Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation.
BMC medical genomics 2011;4():25.
2011: Yvonne Bombard; JoAnne Palin; Jan M Friedman; Gerry Veenstra; Susan Creighton; Jane S Paulsen; Joan L Bottorff; Michael R Hayden
Factors associated with experiences of genetic discrimination among individuals at risk for Huntington disease.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2011;156B(1):19-27.
2010: Jan M Friedman
The principles of teratology: are they still true?
Birth defects research. Part A, Clinical and molecular teratology 2010;88(10):766-8.
2010: Erica S Tsang; Patricia Birch; Jan M Friedman; Douglas Johnston; Tracy Tucker; Linlea Armstrong
Prevalence of dental caries in children with neurofibromatosis 1.
Clinical oral investigations 2010;14(4):479-80; author reply 480.
2010: Sura Alwan; Jennita Reefhuis; Lorenzo D Botto; Sonja A Rasmussen; Adolfo Correa; Jan M Friedman
Maternal use of bupropion and risk for congenital heart defects.
American journal of obstetrics and gynecology 2010;203(1):52.e1-6.
2010: Kimberly Jett; Jan M Friedman
Clinical and genetic aspects of neurofibromatosis 1.
Genetics in medicine : official journal of the American College of Medical Genetics 2010;12(1):1-11.
2009: Nancy L Makela; Patricia H Birch; Jan M Friedman; Carlo A Marra
Parental perceived value of a diagnosis for intellectual disability (ID): a qualitative comparison of families with and without a diagnosis for their child's ID.
American journal of medical genetics. Part A 2009;149A(11):2393-402.
2009: Anna M Lehman; Jan M Friedman; David Chai; Farah Zahir; Marco A Marra; Larraine Prisman; Erica Tsang; Patrice Eydoux; Linlea Armstrong
A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7.
European journal of medical genetics 2009;52(6):436-9.
2009: Tracy Tucker; Marco Marra; Jan M Friedman
Massively parallel sequencing: the next big thing in genetic medicine.
American journal of human genetics 2009;85(2):142-54.
2009: Jan M Friedman
Big risks in small groups: The difference between epidemiology and counselling.
Birth defects research. Part A, Clinical and molecular teratology 2009;85(8):720-4.
2009: Farah R Zahir; Sylvie Langlois; Kim Gall; Patrice Eydoux; Marco A Marra; Jan M Friedman
A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies.
American journal of medical genetics. Part A 2009;149A(6):1257-62.
2009: T Tucker; C Schnabel; M Hartmann; R E Friedrich; I Frieling; H-P Kruse; Victor-Felix Mautner; Jan M Friedman
Bone health and fracture rate in individuals with neurofibromatosis 1 (NF1).
Journal of medical genetics 2009;46(4):259-65.
2009: Yvonne Bombard; Gerry Veenstra; Jan M Friedman; Susan Creighton; Lauren Currie; Jane S Paulsen; Joan L Bottorff; Michael R Hayden
Perceptions of genetic discrimination among people at risk for Huntington's disease: a cross sectional survey.
BMJ (Clinical research ed.) 2009;338():b2175.
2009: Sura Alwan; Jan M Friedman
Safety of selective serotonin reuptake inhibitors in pregnancy.
CNS drugs 2009;23(6):493-509.
2009: Jan M Friedman
High-resolution array genomic hybridization in prenatal diagnosis.
Prenatal diagnosis 2009;29(1):20-8.
2007: T Tucker; P Birch; D M Savoy; Jan M Friedman
Increased dental caries in people with neurofibromatosis 1.
Clinical genetics 2007;72(6):524-7.
2007: Farah Zahir; Jan M Friedman
The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utility.
Clinical genetics 2007;72(4):271-87.
2007: Farah Zahir; Helen V Firth; Agnes Baross; Allen D Delaney; Patrice Eydoux; William T Gibson; Sylvie Langlois; Howard Martin; Lionel Willatt; Marco A Marra; Jan M Friedman
Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children.
Journal of medical genetics 2007;44(9):556-61.
2007: Sura Alwan; Jennita Reefhuis; Sonja A Rasmussen; Richard S Olney; Jan M Friedman
Use of selective serotonin-reuptake inhibitors in pregnancy and the risk of birth defects.
The New England journal of medicine 2007;356(26):2684-92.
2007: Sura Alwan; Linlea Armstrong; Harry Joe; Patricia Birch; Jacek Szudek; Jan M Friedman
Associations of osseous abnormalities in Neurofibromatosis 1.
American journal of medical genetics. Part A 2007;143A(12):1326-33.
2007: Björn Menten; Karen Buysse; Farah Zahir; Jan Hellemans; Sara J Hamilton; Teresa Costa; Carrie Fagerstrom; George Anadiotis; Daniel Kingsbury; Barbara C McGillivray; Marco A Marra; Jan M Friedman; Frank Speleman; Geert R Mortier
Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14.
Journal of medical genetics 2007;44(4):264-8.
2007: Wendy P Robinson; Barbara C McGillivray; Jan M Friedman
Pregnancy and postnatal outcome of mosaic isochromosome 20q.
Prenatal diagnosis 2007;27(2):143-5.
2007: Agnes Baross; Allen D Delaney; H Irene Li; Tarun Nayar; Stephane Flibotte; Hong Qian; Susanna Y Chan; Jennifer Asano; Adrian Ally; Manqiu Cao; Patricia Birch; Mabel Brown-John; Nicole Fernandes; Anne Go; Giulia Kennedy; Sylvie Langlois; Patrice Eydoux; Jan M Friedman; Marco A Marra
Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data.
BMC bioinformatics 2007;8():368.
2006: Michael E Baser; Jan M Friedman; D G R Evans
Increasing the specificity of diagnostic criteria for schwannomatosis.
Neurology 2006;66(5):730-2.
2005: C Tyson; Chansonette Harvard; R Locker; Jan M Friedman; Sylvie Langlois; M E S Lewis; Margot I Van Allen; M Somerville; Laura Arbour; L Clarke; B McGilivray; Siu Li Yong; J Siegel-Bartel; Evica Rajcan-Separovic
Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH.
American journal of medical genetics. Part A 2005;139(3):173-85.
2005: Sura Alwan; Janine E Polifka; Jan M Friedman
Addendum: sartan treatment during pregnancy.
Birth defects research. Part A, Clinical and molecular teratology 2005;73(11):904-5.
2005: Tsz Kin Bernard Lee; Jan M Friedman
Analysis of NF1 transcriptional regulatory elements.
American journal of medical genetics. Part A 2005;137(2):130-5.
2005: T Tucker; P Wolkenstein; J Revuz; J Zeller; Jan M Friedman
Association between benign and malignant peripheral nerve sheath tumors in NF1.
Neurology 2005;65(2):205-11.
2005: Michael E Baser; Lisa Kuramoto; Ryan Woods; Harry Joe; Jan M Friedman; Andrew J Wallace; Richard T Ramsden; S Olschwang; EK Bijlsma; M Kalamarides; L Papi; R Kato; J Carroll; C Lázaro; F Joncourt; Dilys M Parry; Guy Rouleau; D G R Evans
The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2.
Journal of medical genetics 2005;42(7):540-6.
2005: Sura Alwan; Stephen J Tredwell; Jan M Friedman
Is osseous dysplasia a primary feature of neurofibromatosis 1 (NF1)?
Clinical genetics 2005;67(5):378-90.
2005: Sura Alwan; Janine E Polifka; Jan M Friedman
Angiotensin II receptor antagonist treatment during pregnancy.
Birth defects research. Part A, Clinical and molecular teratology 2005;73(2):123-30.
2005: Kiarash Khosrotehrani; Sylvie Bastuji-Garin; Vincent M Riccardi; Patricia Birch; Jan M Friedman; Pierre Wolkenstein
Subcutaneous neurofibromas are associated with mortality in neurofibromatosis 1: a cohort study of 703 patients.
American journal of medical genetics. Part A 2005;132A(1):49-53.
2004: Michael E Baser; Lisa Kuramoto; Harry Joe; Jan M Friedman; Andrew J Wallace; James E Gillespie; Richard T Ramsden; D G R Evans
Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-based study.
American journal of human genetics 2004;75(2):231-9.
2004: Chana Palmer; Jacek Szudek; Harry Joe; Vincent M Riccardi; Jan M Friedman
Analysis of neurofibromatosis 1 (NF1) lesions by body segment.
American journal of medical genetics. Part A 2004;125A(2):157-61.
2004: Patricia Birch; Jan M Friedman
Utility and limitations of genetic disease databases in clinical genetics research: a neurofibromatosis 1 database example.
American journal of medical genetics. Part C, Seminars in medical genetics 2004;125C(1):42-9.
2004: Anthony R Scialli; Judy L Buelke-Sam; Christina D Chambers; Jan M Friedman; Carole A Kimmel; Janine E Polifka; Melissa S Tassinari
Communicating risks during pregnancy: a workshop on the use of data from animal developmental toxicity studies in pregnancy labels for drugs.
Birth defects research. Part A, Clinical and molecular teratology 2004;70(1):7-12.
2003: Michael E Baser; Lisa Kuramoto; Harry Joe; Jan M Friedman; Andrew J Wallace; Richard T Ramsden; D G R Evans
Genotype-phenotype correlations for cataracts in neurofibromatosis 2.
Journal of medical genetics 2003;40(10):758-60.
2003: Ryan Woods; Jan M Friedman; D G R Evans; Michael E Baser; Harry Joe
Exploring the "two-hit hypothesis" in NF2: tests of two-hit and three-hit models of vestibular schwannoma development.
Genetic epidemiology 2003;24(4):265-72.
2003: Jacek Szudek; D G R Evans; Jan M Friedman
Patterns of associations of clinical features in neurofibromatosis 1 (NF1).
Human genetics 2003;112(3):289-97.
2003: Jan M Friedman
Implications of research in male-mediated developmental toxicity to clinical counsellors, regulators, and occupational safety officers.
Advances in experimental medicine and biology 2003;518():219-26.
2003: Janine E Polifka; Jan M Friedman
Developmental toxicity of ribavirin/IFalpha combination therapy: is the label more dangerous than the drugs?
Birth defects research. Part A, Clinical and molecular teratology 2003;67(1):8-12.
2002: Michael E Baser; Jan M Friedman; Andrew J Wallace; Richard T Ramsden; Harry Joe; D G R Evans
Evaluation of clinical diagnostic criteria for neurofibromatosis 2.
Neurology 2002;59(11):1759-65.
2002: T Tucker; Jan M Friedman
Pathogenesis of hereditary tumors: beyond the "two-hit" hypothesis.
Clinical genetics 2002;62(5):345-57.
2002: Y Zhao; Ravinesh Kumar; Michael E Baser; D G R Evans; A Wallace; Lan Kluwe; Victor-Felix Mautner; Dilys M Parry; Guy Rouleau; Harry Joe; Jan M Friedman
Intrafamilial correlation of clinical manifestations in neurofibromatosis 2 (NF2).
Genetic epidemiology 2002;23(3):245-59.
2002: Michael E Baser; Jan M Friedman; Dana Aeschliman; Harry Joe; Andrew J Wallace; Richard T Ramsden; D G R Evans
Predictors of the risk of mortality in neurofibromatosis 2.
American journal of human genetics 2002;71(4):715-23.
2002: W Y Lo; Jan M Friedman
Teratogenicity of recently introduced medications in human pregnancy.
Obstetrics and gynecology 2002;100(3):465-73.
2002: Janine E Polifka; Jan M Friedman
Medical genetics: 1. Clinical teratology in the age of genomics.
CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne 2002;167(3):265-73.
2002: Jan M Friedman
Neurofibromatosis 1: clinical manifestations and diagnostic criteria.
Journal of child neurology 2002;17(8):548-54; discussion 571-2, 646-51.
2002: Jacek Szudek; Harry Joe; Jan M Friedman
Analysis of intrafamilial phenotypic variation in neurofibromatosis 1 (NF1).
Genetic epidemiology 2002;23(2):150-64.
2002: Jacek Szudek; Jan M Friedman
Unidentified bright objects associated with features of neurofibromatosis 1.
Pediatric neurology 2002;27(2):123-7.
2002: Edmund S H Kwok; Bonita J Sawatzky; Patricia Birch; Jan M Friedman; Stephen J Tredwell
Vertebral scalloping in neurofibromatosis type 1: a quantitative approach.
Canadian journal of surgery. Journal canadien de chirurgie 2002;45(3):181-4.
2002: Jan M Friedman; Jack Arbiser; Jonathan A Epstein; David H Gutmann; Stephen J Huot; Angela E Lin; Bruce McManus; Bruce Korf
Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force.
Genetics in medicine : official journal of the American College of Medical Genetics 2002;4(3):105-11.
2002: Janine E Polifka; Jan M Friedman
Teratogen update: azathioprine and 6-mercaptopurine.
Teratology 2002;65(5):240-61.
2002: Thomas H Shepard; RL Brent; Jan M Friedman; K L Jones; Richard Miller; C A Moore; Janine E Polifka
Update on new developments in the study of human teratogens.
Teratology 2002;65(4):153-61.
2001: S J Hamilton; Michael F Allard; Jan M Friedman
Cardiac findings in an individual with neurofibromatosis 1 and sudden death.
American journal of medical genetics 2001;100(2):95-9.
2000: Jacek Szudek; Patricia Birch; Vincent M Riccardi; D G R Evans; Jan M Friedman
Associations of clinical features in neurofibromatosis 1 (NF1).
Genetic epidemiology 2000;19(4):429-39.
2000: Jacek Szudek; Patricia Birch; Jan M Friedman
Growth in North American white children with neurofibromatosis 1 (NF1).
Journal of medical genetics 2000;37(12):933-8.
2000: S J Hamilton; Jan M Friedman
Insights into the pathogenesis of neurofibromatosis 1 vasculopathy.
Clinical genetics 2000;58(5):341-4.
2000: Hélène Bruyère; Rosemarie Rupps; Brian Kuchinka; Jan M Friedman; Wendy P Robinson
Recurrent trisomy 21 in a couple with a child presenting trisomy 21 mosaicism and maternal uniparental disomy for chromosome 21 in the euploid cell line.
American journal of medical genetics 2000;94(1):35-41.
2000: Jan M Friedman
Teratology society: presentation to the FDA public meeting on safety issues associated with the use of dietary supplements during pregnancy.
Teratology 2000;62(2):134-7.
2000: Jacek Szudek; Patricia Birch; Jan M Friedman
Growth charts for young children with neurofibromatosis 1 (NF1)
American journal of medical genetics 2000;92(3):224-8.
2000: K DeBella; K Poskitt; Jacek Szudek; Jan M Friedman
Use of "unidentified bright objects" on MRI for diagnosis of neurofibromatosis 1 in children.
Neurology 2000;54(8):1646-51.
2000: K DeBella; Jacek Szudek; Jan M Friedman
Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children.
Pediatrics 2000;105(3 Pt 1):608-14.
1999: Janine E Polifka; Jan M Friedman
Clinical teratology: identifying teratogenic risks in humans.
Clinical genetics 1999;56(6):409-20.
1999: Jan M Friedman
Epidemiology of neurofibromatosis type 1.
American journal of medical genetics 1999;89(1):1-6.
1999: Jan M Friedman; C A Kimmel
Teratology Society 1998 Public Affairs Committee Symposium: the new thalidomide era: dealing with the risks.
Teratology 1999;59(2):120-3.
1998: R Moslehi; Sylvie Langlois; I Yam; Jan M Friedman
Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree.
American journal of medical genetics 1998;76(1):21-7.
1997: Jan M Friedman
Association of Professors of Human or Medical Genetics: second annual workshop summary.
American journal of medical genetics 1997;72(2):191-6.
1997: Jan M Friedman; Patricia Birch
Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients.
American journal of medical genetics 1997;70(2):138-43.
1997: Jan M Friedman; Patricia Birch
An association between optic glioma and other tumours of the central nervous system in neurofibromatosis type 1.
Neuropediatrics 1997;28(2):131-2.
1996: Jan M Friedman
Association of professors of human or medical genetics: summary of first annual workshop.
American journal of medical genetics 1996;65(3):235-40.
1993: Elena Lopez-Rangel; M Hrynchak; Jan M Friedman
Cardio-facio-cutaneous (CFC) syndrome in a child carrying an inherited inversion of chromosome 7.
American journal of medical genetics 1993;47(3):326-9.
1993: Jan M Friedman
Report of the Teratology Society Public Affairs Committee symposium on FDA classification of drugs.
Teratology 1993;48(1):5-6.
1993: Jan M Friedman; P Birch; C Greene
National Neurofibromatosis Foundation International Database.
American journal of medical genetics 1993;45(1):88-91.
1992: Elena Lopez-Rangel; M Maurice; B McGillivray; Jan M Friedman
Williams syndrome in adults.
American journal of medical genetics 1992;44(6):720-9.
1992: Jan M Friedman; M J Harrod; Patricia N Howard-Peebles
Complementary duplication and deletion of 17 (pcen----p11.2): a family with a supernumerary chromosome comprised of an interstitially deleted segment.
American journal of medical genetics 1992;44(1):37-40.
1992: Jan M Friedman
The use of dysmorphology in birth defects epidemiology.
Teratology 1992;45(2):187-93.
1991: D S Wargowski; D Chitayat; R W Tyson; M G Norman; Jan M Friedman
Lethal congenital muscular dystrophy with cataracts and a minor brain anomaly: new entity or variant of Walker-Warburg syndrome?
American journal of medical genetics 1991;39(1):19-24.
1990: Jan M Friedman; B B Little; R L Brent; J F Cordero; J W Hanson; T H Shepard
Potential human teratogenicity of frequently prescribed drugs.
Obstetrics and gynecology 1990;75(4):594-9.
1990: D M Gilchrist; Jan M Friedman; P C Rogers; S P Creighton
Myelodysplasia and leukemia syndrome with monosomy 7: a genetic perspective.
American journal of medical genetics 1990;35(3):437-41.
1990: D Chitayat; Jan M Friedman; James Dimmick
Neuroblastoma in a child with Wiedemann-Beckwith syndrome.
American journal of medical genetics 1990;35(3):433-6.
1990: D Chitayat; Jan M Friedman; M M Johnston
Hypomelanosis of Ito--a nonspecific marker of somatic mosaicism: report of case with trisomy 18 mosaicism.
American journal of medical genetics 1990;35(3):422-4.
1990: K Game; Jan M Friedman; Dagmar K Kalousek
Mild phenotypic abnormalities in combined del 9p2 and dup 3p2.
American journal of medical genetics 1990;35(3):370-2.
1990: R Ellen Magenis; S Toth-Fejel; L J Allen; M Black; M G Brown; Sarojini S Budden; R Cohen; Jan M Friedman; D Kalousek; Jonathan (Jon) Zonana
Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: specific regions, extent of deletions, parental origin, and clinical consequences.
American journal of medical genetics 1990;35(3):333-49.
1989: K Vasarhelyi; Jan M Friedman
Analysing rearrangement breakpoint distributions by means of binomial confidence intervals.
Annals of human genetics 1989;53(Pt 4):375-80.
1989: K Game; Jan M Friedman; B Paradice; M G Norman
Fetal growth retardation, hydrocephalus, hypoplastic multilobed lungs, and other anomalies in 4 sibs.
American journal of medical genetics 1989;33(2):276-9.
1989: J Stephen Bamforth; V M Riccardi; P Thisen; D Chitayat; Jan M Friedman; J Caruthers; Judith G Hall
Encephalocraniocutaneous lipomatosis. Report of two cases and a review of the literature.
Neurofibromatosis 1989;2(3):166-73.
1989: J Stephen Bamforth; C O Leonard; Bernard N Chodirker; D Chitayat; H L Gritter; J A Evans; B Keena; T Pantzar; Jan M Friedman; Judith G Hall
Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome.
American journal of medical genetics 1989;32(1):93-9.
1988: D Chitayat; Jan M Friedman; L Anderson; James Dimmick
Hepatocellular carcinoma in a child with familial Russell-Silver syndrome.
American journal of medical genetics 1988;31(4):909-14.
1988: Jan M Friedman
Teratogen update: anesthetic agents.
Teratology 1988;37(1):69-77.
1986: J L Byrne; M J Harrod; Jan M Friedman; Patricia N Howard-Peebles
del(20p) with manifestations of arteriohepatic dysplasia.
American journal of medical genetics 1986;24(4):673-8.