S. Mumm

发表

Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts.

R. Cahill, D. Wenkert, S. Perlman, 2007, The Journal of clinical endocrinology and metabolism.

X chromosome map at 75-kb STS resolution, revealing extremes of recombination and GC content.

R. Mazzarella, D. Schlessinger, M. D'urso, 1997, Genome research.

Adult hypophosphatasia treated with teriparatide.

S. Mumm, M. Whyte, C. Deal, 2007, The Journal of clinical endocrinology and metabolism.

Deactivating Germline Mutations in LEMD3 Cause Osteopoikilosis and Buschke‐Ollendorff Syndrome, but Not Sporadic Melorheostosis

D. Wenkert, W. Mcalister, S. Mumm, 2006, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene.

C. Sergi, S. Mumm, M. Whyte, 2007, Bone.

Osteoprotegerin deficiency and juvenile Paget's disease.

M. Podgornik, W. Mcalister, S. Mumm, 2002, The New England journal of medicine.

Genes and translocations involved in POF.

D. Schlessinger, L. Crisponi, S. Mumm, 2002, American journal of medical genetics.

Effect of CYP1A1 Gene Polymorphisms on Estrogen Metabolism and Bone Density

S. Mumm, N. Napoli, R. Armamento-Villareal, 2004, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Mapping human chromosomes by walking with sequence-tagged sites from end fragments of yeast artificial chromosome inserts.

A. Ciccodicola, D. Schlessinger, M. D'urso, 1992, Genomics.

Improved radioimmunoassay for creatine kinase isoenzymes in plasma.

S. Mumm, R. Roberts, C. Ritter, 1981, Clinical chemistry.

Idiopathic Acquired Osteosclerosis in a Middle‐Aged Woman With Systemic Lupus Erythematosus

M. Stolina, S. Mumm, M. Whyte, 2016, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Unraveling retrovirus integration

D. Grandgenett, S. Mumm, 1990, Cell.

No vascular calcification on cardiac computed tomography spanning asfotase alfa treatment for an elderly woman with hypophosphatasia.

A. Bierhals, W. Mcalister, S. Mumm, 2019, Bone.

Osteoprotegerin Deficiency and Aneurysm Formation: Case Report of Iliac Artery Aneurysms in Juvenile Paget's Disease

Aman B Patel, M. Lindsay, S. Mumm, 2022, Annals of Vascular Surgery - Brief Reports and Innovations.

Physical and transcript map of the hereditary prostate cancer region at xq27.

Tanya M. Teslovich, J. Carpten, E. Gillanders, 2002, Genomics.

Unique Variant of NOD2 Pediatric Granulomatous Arthritis With Severe 1,25‐Dihydroxyvitamin D‐Mediated Hypercalcemia and Generalized Osteosclerosis

W. Mcalister, S. Mumm, M. Whyte, 2018, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia

Charles D. Smith, S. Mehta, M. Forman, 2008, American journal of medical genetics. Part A.

COL1 C‐propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta

T. Hefferan, M. Yaszemski, A. Boskey, 2011, Human mutation.

Sporadic hyperphosphatasia syndrome featuring periostitis and accelerated skeletal turnover without receptor activator of nuclear factor-kappaB, osteoprotegerin, or sequestosome-1 gene defects.

J. C. Netelenbos, S. Mumm, M. Whyte, 2007, The Journal of clinical endocrinology and metabolism.

Lack of sustained response to teriparatide in a patient with adult hypophosphatasia.

P. Ebeling, I. J. Poulton, N. Sims, 2010, The Journal of clinical endocrinology and metabolism.

ADULT HYPOPHOSPHATASIA TREATED WITH TERIPARATIDE: REPORT OF 2 PATIENTS AND REVIEW OF THE LITERATURE.

S. Mumm, M. Whyte, P. Camacho, 2016, Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists.

Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK.

W. Mcalister, S. Mumm, M. Whyte, 2014, Bone.

JuvenilePaget'sdiseasewithheterozygous duplicationwithinTNFRSF11A encoding RANK☆ , ☆☆

W. Mcalister, S. Mumm, M. Whyte, 2014 .

Congenital insensitivity to pain: Fracturing without apparent skeletal pathobiology caused by an autosomal dominant, second mutation in SCN11A encoding voltage-gated sodium channel 1.9.

D. Wenkert, W. Mcalister, S. Mumm, 2016, Bone.

Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia.

M. Podgornik, P. Henthorn, S. Mumm, 2002, Molecular genetics and metabolism.

Calcific Periarthritis as the Only Clinical Manifestation of Hypophosphatasia in Middle‐Aged Sisters

S. Mumm, M. Whyte, J. Demertzis, 2014, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

“Atypical femoral fractures” during bisphosphonate exposure in adult hypophosphatasia

S. Coburn, S. Mumm, M. Whyte, 2012, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

PHEX 3′‐UTR c.*231A>G Near The Polyadenylation Signal Is a Relatively Common, Mild, American Mutation That Masquerades as Sporadic or X‐Linked Recessive Hypophosphatemic Rickets

D. Wenkert, W. Mcalister, S. Mumm, 2015, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Avian retrovirus pp32 DNA endonuclease is phosphorylated on Ser in the carboxyl-terminal region

D. Grandgenett, R. Horton, S. Mumm, 1988, Journal of virology.

Early-onset Paget's disease of bone in a Mexican family caused by a novel tandem duplication (77dup27) in TNFRSF11A that encodes RANK.

Jonathan C. Baker, S. Duan, S. Mumm, 2020, Bone.

Hypophosphatemic osteosclerosis, hyperostosis, and enthesopathy associated with novel homozygous mutations of DMP1 encoding dentin matrix protein 1 and SPP1 encoding osteopontin: The first digenic SIBLING protein osteopathy?

M. McKee, S. Duan, W. Mcalister, 2019, Bone.

Skeletal changes in epidermal nevus syndrome: Does focal bone disease harbor clues concerning pathogenesis?

M. Cunningham, R. Steiner, C. Heike, 2005, American journal of medical genetics. Part A.

Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients.

D. Wenkert, S. Coburn, W. Mcalister, 2015, Bone.

Defining nucleic acid-binding properties of avian retrovirus integrase by deletion analysis

D. Grandgenett, S. Mumm, Steven R. Mumm, 1991, Journal of virology.

Healing of vitamin D deficiency rickets complicating hypophosphatasia suggests a role beyond circulating mineral sufficiency for vitamin D in musculoskeletal health.

W. Mcalister, S. Mumm, M. Whyte, 2020, Bone.

Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27.

D. Schlessinger, K. Davies, R. Thakker, 1998, Journal of medical genetics.

New explanation for autosomal dominant high bone mass: Mutation of low-density lipoprotein receptor-related protein 6.

S. Duan, W. Mcalister, S. Mumm, 2019, Bone.

Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity

S. Duan, S. Mumm, M. Whyte, 2022, JBMR plus.

ZNF687 Mutations in an Extended Cohort of Neoplastic Transformations in Paget's Disease of Bone: Implications for Clinical Pathology

F. Gianfrancesco, T. Esposito, A. Franchi, 2020, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Sequence and gene content in 35 kb genomic clone mapping in the human Xq27.1 region.

L. Milanesi, R. Pergolizzi, I. Rogozin, 1997, DNA sequence : the journal of DNA sequencing and mapping.

X‐Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3′‐UTR Mutation c.*231A>G (A Retrospective Case–Control Study)

D. Wenkert, S. Mumm, M. Whyte, 2020, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Hyperphosphatemia with low FGF7 and normal FGF23 and sFRP4 levels in the circulation characterizes pediatric hypophosphatasia.

R. Kumar, T. Berndt, D. Wenkert, 2020, Bone.

CYP1A1: Ethnic and Population Differences in Allelic Frequencies and Interpretation of Bone Biology Studies

S. Mumm, N. Napoli, R. Armamento-Villareal, 2006 .

v-Src enhances phosphorylation at Ser-282 of the Rous sarcoma virus integrase

D. Grandgenett, R. Horton, S. Mumm, 1992, Journal of virology.

Acute severe hypercalcemia after traumatic fractures and immobilization in hypophosphatasia complicated by chronic renal failure.

W. Reinus, R. Leelawattana, S. Mumm, 2013, The Journal of clinical endocrinology and metabolism.

High Bone Mass From Mutation Of Low-Density Lipoprotein Receptor-Related Protein 6 (LRP6).

S. Duan, S. Mumm, M. Whyte, 2020, Bone.

Sclerosteosis: Report of type 1 or 2 in three Indian Tamil families and literature review.

S. Duan, W. Mcalister, S. Mumm, 2018, Bone.

Preonset Studies of Spondyloepiphyseal Dysplasia Tarda Caused by a Novel 2‐Base Pair Deletion in SEDL Encoding Sedlin *

W. Mcalister, S. Mumm, M. Whyte, 2001, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Low serum alkaline phosphatase activity and pathologic fracture: case report and brief review of hypophosphatasia diagnosed in adulthood.

S. Mumm, M. Whyte, H. Khandwala, 2006, Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists.

Persistent idiopathic hyperphosphatasemia from bone alkaline phosphatase in a healthy boy.

W. Mcalister, S. Mumm, M. Whyte, 2020, Bone.

Arrythmogenic Right Ventricular Dysplasia

Colin A. Johnson, T. Bourgeron, K. Lesch, 2016 .

ImprovedRadioimmunoassayfor CreatineKinaselsoenzymesin Plasma

S. Mumm, R. Roberts, C. Ritter, 2004 .

Oropharyngeal Skeletal Disease Accompanying High Bone Mass and Novel LRP5 Mutation

M. Rickels, S. Mumm, M. Whyte, 2004, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Coalescing Expansile Skeletal Disease: Delineation Of An Extraordinary Osteopathy Involving The IFITM5 Mutation Of Osteogenesis Imperfecta Type V.

H. Plotkin, J. Aronson, S. Duan, 2020, Bone.

Rapid Skeletal Turnover in a Radiographic Mimic of Osteopetrosis

T. Helliwell, M. Stolina, W. Mcalister, 2014, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Non-Endemic Skeletal Fluorosis: Causes And Associated Secondary Hyperparathyroidism (Case Report and Literature Review).

D. Wenkert, W. Mcalister, S. Mumm, 2021, Bone.

Buschke-Ollendorff syndrome: absence of LEMD3 mutation in an affected family.

W. Totty, R. Phelps, S. Mumm, 2010, Archives of dermatology.

Chronic Recurrent Multifocal Osteomyelitis Mimicked in Childhood Hypophosphatasia

A. Freemont, D. Wenkert, S. Coburn, 2009, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Hypophosphatasia: Nonlethal disease despite skeletal presentation in utero (17 new cases and literature review)

D. Wenkert, S. Coburn, W. Mcalister, 2011, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation.

Philippe M. Campeau, M. Stolina, D. Wenkert, 2020, Bone.

Dysosteosclerosis Presents as an “Osteoclast-Poor” Form of Osteopetrosis: Comprehensive Investigation of a 3-Year-Old Girl and Literature Review

D. Wenkert, W. Mcalister, S. Mumm, 2010, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Neonatal lethal osteochondrodysplasia with low serum levels of alkaline phosphatase and osteocalcin.

A. Laptook, M. Wyckoff, C. Timmons, 2005, The Journal of clinical endocrinology and metabolism.

Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement.

J. Carey, D. Stevenson, S. Coburn, 2008, The Journal of clinical endocrinology and metabolism.

Juvenile Paget's Disease: The Second Reported, Oldest Patient Is Homozygous for the TNFRSF11B “Balkan” Mutation (966_969delTGACinsCTT), Which Elevates Circulating Immunoreactive Osteoprotegerin Levels

W. Totty, S. Mumm, M. Whyte, 2007, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660)

W. Sly, S. Duan, W. Mcalister, 2017, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy

J. Millán, W. Mcalister, S. Mumm, 2013, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Non-lethal hypophosphatasia interpreted as severe skeletal dysplasia in utero

D. Wenkert, S. Coburn, W. Mcalister, 2007 .

Homozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry.

S. Mumm, M. Whyte, Kevan Essmyer, 2006, The Journal of pediatrics.

Marrow Cell Transplantation for Infantile Hypophosphatasia

J. Kurtzberg, M. Podgornik, Alan K. Smith, 2003, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Camurati-Engelmann Disease: Unique Variant Featuring a Novel Mutation in TGFβ1 Encoding Transforming Growth Factor Beta 1 and a Missense Change in TNFSF11 Encoding RANK Ligand

W. Totty, D. Wenkert, S. Mumm, 2010, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS.

Zachary L. Skidmore, Katie M. Campbell, L. Trani, 2017, Bone.

X/autosomal translocations in the Xq critical region associated with premature ovarian failure fall within and outside genes.

T. Esposito, D. Schlessinger, M. Rocchi, 2001, Genomics.

Historical Vignette: Hypophosphatasia: Molecular Diagnosis of Rathbun's Original Case

S. Mumm, M. Whyte, P. Finnegan, 2001, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Bisphosphonate-induced osteopetrosis.

D. Wenkert, W. Mcalister, S. Mumm, 2003, The New England journal of medicine.

The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site.

M. D'Esposito, S. Mumm, M. Whyte, 2001, Gene.

A novel pseudoautosomal gene encoding a putative GTP-binding protein resides in the vicinity of the Xp/Yp telomere.

A. Ciccodicola, F. Gianfrancesco, T. Esposito, 1998, Human molecular genetics.

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

A. Pestronk, S. Mehta, V. Kimonis, 2004, Nature Genetics.

A variable domain of delayed replication in FRAXA fragile X chromosomes: X inactivation-like spread of late replication.

T. Canfield, R. Hansen, S. Mumm, 1997, Proceedings of the National Academy of Sciences of the United States of America.

Evolution of the X-specific block embedded in the human Xq21.3/Yp11.1 homology region.

M. D'Esposito, M. D'urso, E. Chen, 1999, Genomics.

Transcription map of Xq27: candidates for several X-linked diseases.

D. Schlessinger, C. Montagna, S. Mumm, 1999, Genomics.

Evolutionary features of the 4-Mb Xq21.3 XY homology region revealed by a map at 60-kb resolution.

D. Schlessinger, B. Molini, S. Mumm, 1997, Genome research.

A novel pseudoautosomal human gene encodes a putative protein similar to Ac-like transposases.

A. Ciccodicola, F. Gianfrancesco, T. Esposito, 1999, Human molecular genetics.

Identification of CXorf1, a novel intronless gene in Xq27.3, expressed in human hippocampus.

C. Montagna, M. Cimino, S. Mumm, 1998, DNA and cell biology.

Integrated STS/YAC physical, genetic, and transcript map of human Xq21.3 to q23/q24 (DXS1203-DXS1059).

D. Schlessinger, R. Nagaraja, K. Sossey-Alaoui, 1999, Genomics.

ATRAID regulates the action of nitrogen-containing bisphosphonates on bone

Jonathan C. Baker, M. Gardner, D. Sabatini, 2020, Science Translational Medicine.

Mapping of the MYCL2 processed gene to Xq22‐23 and identification of an additional L MYC‐related sequence in Xq27.2

A. Pizzuti, A. Di Bacco, C. Montagna, 1999, FEBS letters.

A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred.

B. Harding, R. Thakker, S. Mumm, 2000, The Journal of clinical endocrinology and metabolism.

Multicentric Carpotarsal Osteolysis: a Contemporary Perspective on the Unique Skeletal Phenotype

S. Mumm, N. Ma, M. Levine, 2022, Current Osteoporosis Reports.

Phosphorylation of the avian retrovirus integration protein and proteolytic processing of its carboxyl terminus

D. Grandgenett, R. Horton, S. Mumm, 1991, Journal of virology.

Characterization of a stable eukaryotic cell line expressing the Rous sarcoma virus integrase.

D. Grandgenett, S. Mumm, P. Hippenmeyer, 1992, Virology.

Lenz‐Majewski Hyperostotic Dwarfism with Hyperphosphoserinuria from a Novel Mutation in PTDSS1 Encoding Phosphatidylserine Synthase 1

W. Mcalister, S. Mumm, M. Whyte, 2015, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

22-Mb integrated physical and genetic map based on YAC/STS content spanning the interval DXS1125-DXS95 in human Xq12-q21.31.

J. Kere, S. Mumm, B. McCauley, 1998, Gene.

Fibrodysplasia ossificans progressiva: Middle‐age onset of heterotopic ossification from a unique missense mutation (c.974G > C, p.G325A) in ACVR1

D. Wenkert, S. Mumm, M. Whyte, 2012, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Juvenile Paget's Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor Sp7).

S. Duan, Philippe M. Campeau, G. Roodman, 2020, Bone.

Heritable disorders of the RANKL/OPG/RANK signaling pathway.

S. Mumm, M. Whyte, 2004, Journal of musculoskeletal & neuronal interactions.

4.5-Mb YAC STS contig at 50-kb resolution, spanning Xq25 deletions in two patients with lymphoproliferative syndrome.

D. Schlessinger, S. Mumm, T. Featherstone, 1997, Genome research.

Neonatal High Bone Mass With First Mutation of the NF‐κB Complex: Heterozygous De Novo Missense (p.Asp512Ser) RELA (Rela/p65)

M. Frost, M. Larsen, A. Frederiksen, 2016, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Manifestations in a family with autosomal dominant bone fragility and limb‐girdle myopathy

S. Mehta, V. Kimonis, S. Mumm, 2006, American journal of medical genetics. Part A.

Panostotic Expansile Bone Disease With Massive Jaw Tumor Formation and a Novel Mutation in the Signal Peptide of RANK

Mark S. Anderson, E. Hsiao, I. El-Sayed, 2014, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers‐Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders

D. Wenkert, W. Mcalister, S. Mumm, 2010, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Early identification of a 12-bp tandem duplication in TNFRSF11A encoding receptor activator of nuclear factor-kappa B (RANK): Clinical characterization and response to bisphosphonate therapy.

S. Mumm, M. Whyte, K. Shekdar, 2023, Bone.

Absence of MMP2 Mutation in Idiopathic Multicentric Osteolysis with Nephropathy

D. Wenkert, W. Mcalister, S. Mumm, 2007, Clinical orthopaedics and related research.

Identification of a U7snRNA homologue mapping to the human Xq27.1 region, between the DXS1232 and DXS119 loci.

L. Milanesi, R. Pergolizzi, I. Rogozin, 1997, Gene.

Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis.

R. Gibbs, Philippe M. Campeau, James T. Lu, 2012, Human molecular genetics.

ASBMR 31st Annual Meeting MO0001–MO0445

Brandi, H. McKay, D. Wenkert, 2009 .

Deletion of 8.5 Mb, including the FMR1 gene, in a male with the fragile X syndrome phenotype and overgrowth.

E. Manor, R. Carmi, S. Mumm, 1999, American journal of medical genetics.

SOX3 gene maps near DXS984 in Xq27.1, within candidate regions for several X-linked disorders.

S. Mumm, G. Pilia, I. Zucchi, 1997, American journal of medical genetics.

Multicentric carpotarsal osteolysis syndrome is caused by only a few domain‐specific mutations in MAFB, a negative regulator of RANKL‐induced osteoclastogenesis

S. Duan, D. Wenkert, W. Mcalister, 2014, American journal of medical genetics. Part A.

Markedly Elevated Bone Density in a Man with Longstanding Hypoparathyroidism

S. Mumm, A. Moses, J. Spadaro, 2008 .

Auricular ossification: A newly recognized feature of osteoprotegerin‐deficiency juvenile Paget disease

D. Wenkert, W. Mcalister, S. Mumm, 2016, American journal of medical genetics. Part A.

LRP6 High Bone Mass Characterized in Two Generations Harboring a Unique Mutation of Low‐Density Lipoprotein Receptor‐Related Protein 6

Jonathan C. Baker, S. Duan, S. Mumm, 2023, JBMR plus.

Pregnancy‐Associated Osteoporosis With a Heterozygous Deactivating LDL Receptor‐Related Protein 5 (LRP5) Mutation and a Homozygous Methylenetetrahydrofolate Reductase (MTHFR) Polymorphism

D. Wenkert, S. Mumm, M. Whyte, 2014, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

High-bone-mass disease and LRP5.

S. Mumm, M. Whyte, William H Reinus, 2004, The New England journal of medicine.

Skeletal Fluorosis Due To Inhalation Abuse of a Difluoroethane‐Containing Computer Cleaner

T. Keaveny, J. Tucci, W. Mcalister, 2017, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Andersen disease

Colin A. Johnson, T. Bourgeron, K. Lesch, 2019 .

ATRAID, a genetic factor that regulates the clinical action of nitrogen-containing bisphosphonates on bone

Jonathan C. Baker, M. Gardner, D. Sabatini, 2018, bioRxiv.

Expression and cloning of the human X-linked hypophosphatemia gene cDNA.

R. Mazzarella, D. Schlessinger, R. Thakker, 1997, Biochemical and biophysical research communications.

Juvenile Paget's disease in an Iranian kindred with vitamin D deficiency and novel homozygous TNFRSF11B mutation

W. Mcalister, S. Mumm, M. Whyte, 2013, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

A Case Report of a 44-Year-Old Woman With Camurati-Englemann Disease: A Case Report.

E. W. Lloyd, V. Kimonis, S. Mumm, 2020, JBJS case connector.

The Val432Leu polymorphism of the CYP1B1 gene is associated with differences in estrogen metabolism and bone density.

G. Di Fede, S. Mumm, N. Napoli, 2009, Bone.

Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome

S. Mehta, Chengfeng Zhao, V. Kimonis, 2005, Human Genetics.

Effects of polymorphisms of the sex hormone-binding globulin (SHBG) gene on free estradiol and bone mineral density.

S. Mumm, N. Napoli, R. Armamento-Villareal, 2009, Bone.

X‐Linked Hypophosphatemia Caused by the Prevailing North American PHEX Variant c.*231A>G; Exon 13–15 Duplication Is Often Misdiagnosed as Ankylosing Spondylitis and Manifests in Both Men and Women

S. Mumm, M. Whyte, G. Gottesman, 2022, JBMR plus.

Periarticular calcifications containing giant pseudo-crystals of francolite in skeletal fluorosis from 1,1-difluoroethane 'huffing".

A. Boyde, W. Mcalister, S. Mumm, 2022, Bone.

YAC/STS map across 12 Mb of Xq27 at 25-kb resolution, merging Xq26-qter.

J. Weissenbach, D. Schlessinger, S. Mumm, 1996, Genomics.

YAC/STS map of 9 Mb of Xq26 at 100-kb resolution, localizing 6 ESTs, 6 genes, and 32 genetic markers.

J. Weissenbach, D. Schlessinger, S. Mumm, 1996, Genomics.

Refined genetic mapping of X-linked thoracoabdominal syndrome.

J. Weissenbach, R. Carmi, S. Mumm, 1996, American journal of medical genetics.

Reply: Response to: Rapid Skeletal Turnover in a Radiographic Mimic of Osteopetrosis Might Be Secondary to Systemic Mastocytosis

W. Mcalister, S. Mumm, M. Whyte, 2015, Journal of Bone and Mineral Research.

Response to: A Rapid Skeletal Turnover in Radiographic Mimic of Osteopetrosis Might Be Secondary to Systemic Mastocytosis

W. Mcalister, S. Mumm, M. Whyte, 2015, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Adenomatous Polyposis, Familial

Colin A. Johnson, T. Bourgeron, K. Lesch, 2009 .

Acute colonic pseudo‐obstruction

T. Bourgeron, J. Sznajder, E. Viding, 1992, The British journal of surgery.

Refined mapping and YAC contig construction of the X-linked cleft palate and ankyloglossia locus (CPX) including the proximal X-Y homology breakpoint within Xq21.3.

D. Bentley, S. Gregory, S. Forbes, 1996, Genomics.

mtDNA analysis shows common ancestry in two kindreds with X-linked recessive hypoparathyroidism and reveals a heteroplasmic silent mutation.

D. Schlessinger, K. Buetow, R. Thakker, 1997, American journal of human genetics.

Aromatic L-amino acid decarboxylase deficiency

T. Bourgeron, K. Lesch, J. Sznajder, 2020, Definitions.

Sclerosteosis: Report of type 1 or 2 in three Indian Tamil families and literature review.

W. Mcalister, S. Mumm, M. Whyte, 2018, Bone.

Andersen-Tawil syndrome

E. Viding, G. Kojda, M. Digilio, 2020, Definitions.

Lenz‐Majewski Hyperostotic Dwarfism with Hyperphosphoserinuria from a Novel Mutation in PTDSS1 Encoding Phosphatidylserine Synthase 1

W. Mcalister, S. Mumm, M. Whyte, 2015, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Androgen insensitivity syndrome.

T. Bourgeron, E. Viding, G. Kojda, 2019, Bailliere's clinical endocrinology and metabolism.

Auricular ossification: A newly recognized feature of osteoprotegerin‐deficiency juvenile Paget disease

D. Wenkert, W. Mcalister, S. Mumm, 2016, American journal of medical genetics. Part A.